Sample records for optic neuropathy accompanying

  1. Ischemic Optic Neuropathies

    Microsoft Academic Search

    Anthony C. Arnold

    ? Ischemic optic neuropathy is classified by location as anterior or posterior and by etiology as arteritic or nonarteritic.\\u000a \\u000a \\u000a ? Anterior ischemic optic neuropathy (AION) presents with rapid, usually painless, monocular visual field loss in the presence\\u000a of optic disc edema. \\u000a \\u000a \\u000a \\u000a ? Arteritic AION is typically more severe and more frequently bilateral than nonarteritic AION, and is associated with severe

  2. Toxic optic neuropathy

    Microsoft Academic Search

    Anat Kesler; Pazit Pianka

    2003-01-01

    Toxic optic neuropathy is a complex, multifactorial disease potentially affecting individuals of all ages, races, places,\\u000a and economic strata. Etiology includes nutritional, environmental, toxicologic, and genetic factors. Most cases of nutritional\\u000a amblyopia are encountered in disadvantaged countries. However, toxic amblyopia related to drug treatment or alcohol abuse\\u000a is also encountered in the Western world. Typically, toxic and nutritional optic neuropathy

  3. [Leber's hereditary optic neuropathy].

    PubMed

    Hilo, Wasseem; Jabaly-Habib, Haneen; Modi, Naftali; Briscoe, Daniel

    2013-08-01

    Lebers hereditary optic neuropathy (LHON) is a maternally inherited disease characterized by subacute severe visual loss in both eyes, which usually manifests in young adulthood. The disease has maternal inheritance due to mitochondrial DNA mutation. The final diagnosis is genetic. There is still no proven treatment, but there is significant progress in developments on the genetics of the disease to reach gene therapy. In this article we review the latest literature relevant to this disease. PMID:24167936

  4. Optic neuropathy caused by Propionibacterium acnes pachymeningitis.

    PubMed

    Adesina, Ore-Ofe O; Stagg, Brian C; Digre, Kathleen B; Katz, Bradley J; Quigley, Edward P; Palmer, Cheryl A; Warner, Judith E A

    2014-09-01

    We describe a patient with vision loss from an optic neuropathy caused by Propionibacterium acnes pachymeningitis. The patient's optic neuropathy was stabilized with appropriate antibiotic therapy. PMID:24614085

  5. Linezolid-induced optic neuropathy.

    PubMed

    Karuppannasamy, Divya; Raghuram, Andavar; Sundar, Devisundaram

    2014-04-01

    Many systemic antimicrobials have been implicated to cause ocular adverse effects. This is especially relevant in multidrug therapy where more than one drug can cause a similar ocular adverse effect. We describe a case of progressive loss of vision associated with linezolid therapy. A 45-year-old male patient who was on treatment with multiple second-line anti-tuberculous drugs including linezolid and ethambutol for extensively drug-resistant tuberculosis (XDR-TB) presented to us with painless progressive loss of vision in both eyes. Color vision was defective and fundus examination revealed optic disc edema in both eyes. Ethambutol-induced toxic optic neuropathy was suspected and tablet ethambutol was withdrawn. Deterioration of vision occurred despite withdrawal of ethambutol. Discontinuation of linezolid resulted in marked improvement of vision. Our report emphasizes the need for monitoring of visual function in patients on long-term linezolid treatment. PMID:24088636

  6. Multifocal visual evoked potential in optic neuritis, ischemic optic neuropathy and compressive optic neuropathy

    PubMed Central

    Jayaraman, Manju; Gandhi, Rashmin Anilkumar; Ravi, Priya; Sen, Parveen

    2014-01-01

    Purpose: To investigate the effect of optic neuritis (ON), ischemic optic neuropathy (ION) and compressive optic neuropathy (CON) on multifocal visual evoked potential (mfVEP) amplitudes and latencies, and to compare the parameters among three optic nerve disorders. Materials and Methods: mfVEP was recorded for 71 eyes of controls and 48 eyes of optic nerve disorders with subgroups of optic neuritis (ON, n = 21 eyes), ischemic optic neuropathy (ION, n = 14 eyes), and compressive optic neuropathy (CON, n = 13 eyes). The size of defect in mfVEP amplitude probability plots and relative latency plots were analyzed. The pattern of the defect in amplitude probability plot was classified according to the visual field profile of optic neuritis treatment trail (ONTT). Results: Median of mfVEP amplitude (log SNR) averaged across 60 sectors were reduced in ON (0.17 (0.13-0.33)), ION (0.14 (0.12-0.21)) and CON (0.21 (0.14-0.30)) when compared to controls. The median mfVEP relative latencies compared to controls were significantly prolonged in ON and CON group of 10.53 (2.62-15.50) ms and 5.73 (2.67-14.14) ms respectively compared to ION group (2.06 (-4.09-13.02)). The common mfVEP amplitude defects observed in probability plots were diffuse pattern in ON, inferior altitudinal defect in ION and temporal hemianopia in CON eyes. Conclusions: Optic nerve disorders cause reduction in mfVEP amplitudes. The extent of delayed latency noted in ischemic optic neuropathy was significantly lesser compared to subjects with optic neuritis and compressive optic neuropathy. mfVEP amplitudes can be used to objectively assess the topography of the visual field defect. PMID:24088641

  7. Chlamydia in Anterior Ischemic Optic Neuropathy

    Microsoft Academic Search

    Pia V. Vécsei; Karl Kircher; Andreas Reitner; Gelas Khanakha; Gerold Stanek

    2002-01-01

    There is an increasing body of evidence linking the common respiratory human pathogen Chlamydia pneumoniae with atherosclerosis and other vascular disorders. Our research was designed to investigate the association of this organism with anterior ischemic optic neuropathy (AION), representing an acute ischemic disorder of the optic nerve head. Sera were examined of 14 consecutive patients with AION and of 14

  8. Approach to diagnosis and management of optic neuropathy.

    PubMed

    Mustafa, Sharik; Pandit, Lekha

    2014-01-01

    Visual loss consequent to anterior visual pathway involvement can occur in a variety of clinical settings. In a tropical country like India, apart from the usual suspects, nutritional, infective, and toxic amblyopia have to be considered in the differential diagnosis. The mode of onset (acute/chronic), unilateral versus bilateral involvement, accompanying occular pain or the lack of it, and pattern of visual loss are some of the pointers which help to differentiate optic neuropathy clinically. The presence of concurrent neurological deficits, evidence of other systemic illnesses, and the results of serological and radiological investigations help to confirm the diagnosis. This article briefly describes the important causes of optic neuropathy in the Indian context and outlines a practical approach to management. PMID:25591670

  9. Medical Management of Hereditary Optic Neuropathies

    PubMed Central

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated. PMID:25132831

  10. Postirradiation optic neuropathy in antral carcinoma

    SciTech Connect

    Singh, J.; Vashist, S.

    1984-06-01

    A case is described of a patient who developed radiation-induced optic neuropathy 18 months following cobalt-60 irradiation for carcinoma of the left maxillary antrum and ethmoid sinus. This case is unusual because of the early onset of the optic nerve damage following radiation therapy and the ultimate emergence of the eye involved by tumor compression as the better eye in terms of visual acuity.

  11. Ischaemic optic neuropathy with painful ophthalmoplegia in diabetes mellitus

    Microsoft Academic Search

    D A Jabs; N R Miller; W R Green

    1981-01-01

    Two patients with mild, adult-onset diabetes mellitus developed a painful ophthalmoplegia and ipsilateral optic neuropathy that was relatively unresponsive to steroids. Histopathological study of the optic nerve of one patient revealed an extensive ischaemic infarct. There was ultimate recovery from the cranial nerve palsies in both patients and the optic neuropathy in one patient. Ischaemic polyneuropathy involving the cranial nerves

  12. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.

    PubMed Central

    Chalmers, R M; Bird, A C; Harding, A E

    1996-01-01

    The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy. PMID:8708653

  13. Poorly differentiated hepatocellular carcinoma accompanied by anti-Hu antibody-positive paraneoplastic peripheral neuropathy.

    PubMed

    Matsui, Takahiro; Hori, Yumiko; Nagano, Hiroaki; Eguchi, Hidetoshi; Marubashi, Shigeru; Wada, Hiroshi; Wada, Naoki; Ikeda, Jun-Ichiro; Sakamoto, Michiie; Morii, Eiichi

    2015-07-01

    The anti-Hu antibody is one of the most famous onco-neural antibodies related to paraneoplastic neurological syndrome, and is associated with small cell lung carcinoma in most cases. Here, we report a case of poorly differentiated hepatocellular carcinoma accompanied by paraneoplastic peripheral neuropathy positive for the anti-Hu antibody. Image inspection before operation revealed that no tumors were found in organs other than the liver, including lung, and that the liver tumor had no metastatic lesion. The liver tumor showed histological appearance of poorly differentiated carcinoma with cartilaginous metaplasia and partial blastoid cell appearance. Most tumor cells presented trabecular-like structure lined by sinusoidal vessels. Immunohistochemically, the tumor cells were positive for low molecular weight cytokeratin and vimentin, partially positive for cytokeratin 19 and CD56, but negative for synaptophysin, chromogranin A and alpha-fetoprotein. Based on the trabecular-like morphology and the results of immunohistochemical staining, we concluded that the tumor was diagnosed as poorly differentiated hepatocellular carcinoma. Anti-Hu antibody-positive paraneoplastic peripheral neuropathy accompanied with liver tumor is extremely rare as far as is known. The presented case indicates that poorly differentiated carcinoma has the potential to be the responsible lesion of anti-Hu antibody-positive paraneoplastic neurological syndrome and systemic work-up is important for the management of this neurological disorder. PMID:25941021

  14. Leber hereditary optic neuropathy: current perspectives

    PubMed Central

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

  15. The clinical spectrum of amiodarone-associated optic neuropathy.

    PubMed Central

    Johnson, Lenworth N.; Krohel, Gregory B.; Thomas, Eric R.

    2004-01-01

    PURPOSE: To describe the clinical spectrum of amiodarone-associated optic neuropathy. METHODS: Observational cases series and review. RESULTS: Of 55 cases, the median interval for onset of optic neuropathy was four months after initiating amiodarone; 88% occurred within 12 months. Seven (13%) patients were asymptomatic. Twenty-two (40%) patients presented with sudden visual loss, while 26 (47%) had insidious loss of vision. Visual acuity ranged from 20/15 to light perception; 10 (18%) patients had legal blindness with visual acuity of 20/200 or worse. Visual field loss was present in 91% of cases. Color vision loss was present in eight (40%) of 20 cases. Optic disc edema was present in 85% of cases, while eight (15%) patients had retrobulbar optic neuropathy, without evidence of disc edema. Optic disc edema resolved over a median time of three months. Five patients had raised intracranial pressure on lumbar puncture. CONCLUSION: We were able to classify amiodarone-associated optic neuropathy into five clinical categories with respect to temporal characteristics and optic nerve appearance: insidious-onset (43%), acute-onset (28%), retrobulbar (13%), increased intracranial pressure (8%), and delayed-progressive onset (8%). Most cases of optic neuropathy commenced within 12 months of initiating amiodarone, with the median onset being four months. Over 10% of patients will have no visual symptoms at the onset. Ophthalmologic examinations within the first 12 months--and particularly within four months of initiating amiodarone--should improve early detection of amiodarone-associated optic neuropathy. PMID:15586652

  16. Acute optic neuropathy associated with a novel MFN2 mutation.

    PubMed

    Leonardi, Luca; Marcotulli, Christian; Storti, Eugenia; Tessa, Alessandra; Serrao, Mariano; Parisi, Vincenzo; Santorelli, F M; Pierelli, Francesco; Casali, Carlo

    2015-07-01

    Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot-Marie-Tooth (CMT). In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated with optic neuropathy. Most reports of HMSN VI presented with a sub-acute form of optic neuropathy. Herein, we report a CMT2A patient, who developed very rapidly progressing severe optic neuropathy. A 40-year-old Caucasian man was evaluated for gait disturbance and lower limbs weakness, slowly progressed over the last 2 years. Due to clinical data and family history, a diagnosis of CMT2 was made. The novel heterozygous c.775C > T (p.Arg259Cys) mutation in MFN2 was detected in the patient and his clinical affected mother. Interestingly, the patient developed a severe sudden bilateral visual deterioration few years early, with clinical and instrumental picture suggestive of acute bilateral optic neuropathy. Our report expands the spectrum of MFN2-related manifestation because it indicates that visual symptoms of HMSN VI may enter in the differential with acquired or hereditary acute optic neuropathies, and that severe optic neuropathy is not invariably an early manifestation of the disease but may occur as disease progressed. This report could have an impact on clinicians who evaluate patients with otherwise unexplainable bilateral acute-onset optic neuropathy, especially if associated with a motor and sensory axonal neuropathy. PMID:25957633

  17. Sildenafil-associated nonarteritic anterior ischemic optic neuropathy

    Microsoft Academic Search

    Howard D Pomeranz; Kyle H Smith; William M Hart; Robert A Egan

    2002-01-01

    PurposeTo describe the clinical features of five patients who developed nonarteritic anterior ischemic optic neuropathy (NAION) after ingestion of sildenafil citrate (Viagra; Pfizer Pharmaceuticals, New York, NY).

  18. Tobacco-alcohol optic neuropathy--clinical challenges in diagnosis.

    PubMed

    Chiotoroiu, S M; Noaghi, M; Stefaniu, G I; Secureanu, F A; Purcarea, V L; Zemba, M

    2014-01-01

    Part of the large group of nutritional and toxic optic neuropathies, tobacco-alcohol optic neuropathy is a disease often underdiagnosed or detected at a stage when the full recovery of vision is not possible. This article summarizes its signs and symptoms, describes the pathophysiological processes involved and provides the necessary information for diagnosis and treatment of the entity previously known as tobacco-alcohol amblyopia, reporting in the end, a challenging case along with its findings. PMID:25713605

  19. Toxic optic neuropathy: an unusual cause.

    PubMed

    Ramkumar, Hema L; Savino, Peter J

    2014-10-01

    A 60-year-old woman with a history of chronic alcoholism and tobacco use presented with the complaint of a painless decrease in vision in both eyes. She lost vision first in the left eye then in the right eye. She admitted consuming at least one 16 ounce bottle of over the counter mouthwash daily and denied consumption of any other alcohols, methanol, or antifreeze. She stated that her vision had been continuing to deteriorate in both eyes. Her best-corrected visual acuity was 4/200 in each eye. Color vision was nil in each eye. Her pupils were sluggish bilaterally, and her optic discs were flat and hyperemic with peripapillary hemorrhages. Her visual fields revealed central scotomas bilaterally. The magnetic resonance imaging of the brain and lumbar puncture were within normal limits. Antinuclear antibody, human leukocyte antigen-B27 genotyping, and B12 were normal; serum thiamine was low. While continuing to ingest mouthwash, her vision decreased to count fingers at 2 feet, and maculopapillary bundle pallor developed. She was started on folate and thiamine supplementation. Once she discontinued mouthwash, her vision improved to 20/400 bilaterally, and her central scotomas improved. This case demonstrates an alcohol-induced toxic optic neuropathy from mouthwash ingestion with some visual recovery after discontinuation of the offending agent. PMID:25449946

  20. Nutritional optic neuropathy following bariatric surgery

    PubMed Central

    Sawicka-Pierko, Anna; Hady, Razak Hady; Mariak, Zofia; Dadan, Jacek

    2014-01-01

    Bariatric procedures, associated with gastrointestinal malabsorption of vitamins and microelements, may constitute a risk factor for nutritional optic neuropathy (NON). We present a case of a 34-year-old female patient who developed bilateral NON after sleeve gastrectomy. Despite postoperative ophthalmological supervision, 10 months after the procedure the woman presented with a bilateral decrease in visual acuity down to 0.8, bilateral visual field loss and abnormal visual evoked potential recordings. Laboratory abnormalities included decreased serum concentration of vitamin B12 (161 pg/ml). Treatment was based on intramuscular injections of vitamin B12 (1000 units per day). After 1 week of the treatment, we observed more than a three-fold increase in the serum concentration of vitamin B12 and resolution of the bilateral symptoms of NON. The incidence of NON is likely to increase due to the growing number of these bariatric procedures performed worldwide. Therefore, all persons subjected to such surgery should receive long-term ophthalmological follow-up and supplementation with vitamins and microelements. PMID:25562012

  1. Correlation between optic disc atrophy and aetiology: anterior ischaemic optic neuropathy vs optic neuritis

    Microsoft Academic Search

    E Z Rath; U Rehany; S Linn; S Rumelt

    2003-01-01

    Background The morphologic features of swollen disc in the acute stage of optic neuritis and anterior ischaemic optic neuropathy (AION) have been extensively investigated in contrast to the morphologic features of optic disc atrophy after these events.Objective: A prospective study to evaluate the morphologic features of optic disc atrophy 6 months or more after optic neuritis and nonarteritic AION.Patients and

  2. Neurosyphilis initially presenting as hemorrhagic exudative optic neuropathy in an immunocompetent patient.

    PubMed

    Kim, Eun Bi; Jin, Kiwon; Choi, Dong Gyu; Bae, So Hyun

    2015-06-01

    We describe an unusual case of hemorrhagic exudative optic neuropathy as an initial presentation of neurosyphilis in an immunocompetent patient. The clinicians have to be alert to consider a diagnosis of syphilitic optic neuropathy in cases with hemorrhagic exudative optic neuropathy. PMID:25970315

  3. Nonarteritic ischemic optic neuropathy developed after capsular block syndrome

    PubMed Central

    Hurmeric, Volkan; Bayer, Atilla; Durukan, Ali H; Mutlu, Fatih M

    2014-01-01

    A 65-year-old man developed capsular block syndrome in the early postoperative period, following phacoemulsification surgery. After neodymium-doped yttrium aluminum garnet (Nd:YAG) laser anterior capsulotomy, the intraocular pressure remained elevated for 4 days despite antiglaucomatous medication. On the postoperative fifth day, nonarteritic ischemic optic neuropathy was diagnosed. To the best of our knowledge, this is the first report of a case with nonarteritic ischemic optic neuropathy associated with early postoperative capsular block syndrome after phacoemulsification surgery. PMID:23619487

  4. Corticosteroid therapy in patients with non-arteritic anterior ischemic optic neuropathy.

    PubMed

    Vidovi?, Tomislav; Cerovski, Branimir; Peri?, Sanja; Kordi?, Rajko; Mrazovac, Danijela

    2015-03-01

    Non-arteritic anterior ischemic optic neuropathy is one of the most common conditions affecting the optic nerve in the elderly. It may lead to severe visual loss. Typical symptoms are painless impairment of visual function accompanied by relative afferent pupillary defect, edema of the optic disc and visual field defects. Aim is to present 38 patients with nonarteritic anterior ischemic optic neuropathy who were treated with corticosteroid therapy. This prospective study involved 38 patients, 20 men and 18 women aged 60-75 years who were treated with corticosteroid therapy. The study included patients with visual acuity in the affected eye from 0.1 to 0.8 according to Snellen. Every patient underwent clinical examination, the Octopus 900 perimetry in G program, laboratory testing, while the compressive optic neuropathy was rule out with MSCT of the brain and orbits. The most common forms of visual field defect are altitudinal defect and diffuse depression. Corticosteroid therapy led to recovery in 65% of patient, in 30% of patients did not change, while the deterioration occurred in 5% of patients. PMID:26040070

  5. Retrobulbar optic neuropathy secondary to isolated sphenoid sinus disease

    PubMed Central

    Chafale, Vishal Annaji; Lahoti, Satish Arunkumar; Pandit, Alak; Gangopadhyay, Goutam; Biswas, Atanu

    2015-01-01

    Paranasal sinus disease can cause a condition that mimics optic neuritis. Simultaneous appearance of both diseases would create etiological dilemma. We report two cases of retrobulbar optic neuropathy secondary to isolated sphenoid sinus disease. In the case of a 65-year-old female who had presented with acute loss of vision in the left eye associated with left-sided frontal headache which subsequently turned out to be caused by optic nerve compression at the orbital apex due to collection in abnormally pneumatized left lesser wing of the sphenoid. In another case, a 65-year-old lady had presented with symptoms of bilateral retrobulbar optic neuropathy which was found to be due to direct compression of optic nerves at the orbital apex secondary to metastases from breast carcinoma. PMID:25883489

  6. Radiation-induced optic neuropathy: A magnetic resonance imaging study

    Microsoft Academic Search

    John Guy; Anthony Mancuso; Roy Beck; Mark L. Moster; Lyn A. Sedwick; Ronald G. Quisling; Albert L. Rhoton; Eugene E. Protzko; Jade Schiffman

    1991-01-01

    Optic neuropathy induced by radiation is an infrequent cause of delayed visual loss that may at times be difficult to differentiate from compression of the visual pathways by recurrent neoplasm. The authors describe six patients with this disorder who experienced loss of vision 6 to 36 months after neurological surgery and radiation therapy. Of the six patients in the series,

  7. Hyperbaric Oxygen Therapy for Radiation-induced Optic Neuropathy

    Microsoft Academic Search

    Richard L Levy; Neil R Miller

    Introduction: Radiation-induced optic neuropathy (RON) is an infrequent but devastating consequence of radiation exposure to the visual pathways, usually following months to years after the treatment of paranasal or intracranial tumours. Hyperbaric oxygen (HBO) therapy is one of several therapies that have been tried for this condition. The purpose of this review is to describe the clinical characteristics of RON,

  8. Visual Rehabilitation of Persons with Leber's Hereditary Optic Neuropathy.

    ERIC Educational Resources Information Center

    Rudanko, S.-L.

    1995-01-01

    This article presents results of a noncontrolled clinical study of 20 persons with Leber's hereditary optic neuropathy who were treated from 1976 to 1990 at the Low Vision Centre of the Finnish Federation of the Visually Handicapped. The importance of early functional visual rehabilitation is emphasized, as is the use of low vision aids to help…

  9. Anterior ischemic optic neuropathy precipitated by acute primary angle closure.

    PubMed

    Choudhari, Nikhil S; George, Ronnie; Kankaria, Vardhman; Sunil, G T

    2010-01-01

    A 59-year-old man with a history of longstanding systemic hypotension developed asymmetric non-arteritic anterior ischemic optic neuropathy (NAION) apparently precipitated by bilateral sequential acute primary angle closure. NAION is very rarely reported in association with raised intraocular pressure. In contrast to optical coherence tomography, the failure of scanning laser polarimetry to detect axonal swelling was another interesting finding. Possible reasoning for these observations is discussed. PMID:20689205

  10. Anterior ischemic optic neuropathy precipitated by acute primary angle closure

    PubMed Central

    Choudhari, Nikhil S; George, Ronnie; Kankaria, Vardhman; Sunil, G T

    2010-01-01

    A 59-year-old man with a history of longstanding systemic hypotension developed asymmetric non-arteritic anterior ischemic optic neuropathy (NAION) apparently precipitated by bilateral sequential acute primary angle closure. NAION is very rarely reported in association with raised intraocular pressure. In contrast to optical coherence tomography, the failure of scanning laser polarimetry to detect axonal swelling was another interesting finding. Possible reasoning for these observations is discussed. PMID:20689205

  11. Acute dysthyroid optic neuropathy exacerbated by orbital radiotherapy.

    PubMed

    Hersh, Dov; Kinnar, Merchant

    2014-10-01

    A 76-year-old lady presenting with acute dysthyroid optic neuropathy (DON) was stabilised with systemic intravenous methylprednisolone (IVMP). Two separate attempts at a treatment course of orbital radiotherapy (OR) were commenced and subsequently abandoned as there was an acute worsening of her DON during OR, despite cover with oral glucocorticoids and subsequently IVMP. The patient underwent urgent orbital decompression which normalised her vision and optic neuropathy. Our case likely represents worsening of DON due to soft tissue swelling secondary to OR despite cover with IVMP in a patient previously responsive to IVMP alone. Some authors advocate the use of OR in active DON as either a surgery delaying or surgery sparing alternative. This case report illustrates the rare risk of transiently worsening DON with OR. We highlight the need for close monitoring of optic nerve function if OR is utilised in this patient group. PMID:24841498

  12. Toxic optic neuropathy following ingestion of homeopathic medication Arnica-30.

    PubMed

    Venkatramani, Devendra V; Goel, Shubhra; Ratra, Vineet; Gandhi, Rashmin Anilkumar

    2013-03-01

    We report a case of acute, bilateral and severe vision loss after inadvertent consumption of a large quantity of the homoeopathic medication Arnica-30. Severe vomiting which required hospitalization preceded visual symptoms. In the acute stage, pupillary responses to light were absent and fundus examination was normal. Vision loss followed a fluctuating course, with profound loss noted after 6 weeks along with bilateral optic disc pallor. Neuro-ophthalmic examination and detailed investigations were performed, including magnetic resonance imaging, electroretinography (ERG) and visual evoked potentials (VEP). Ocular coherence tomography (OCT) showed gross thinning of the retinal nerve fiber layer. While a differential diagnosis of posterior ischemic optic neuropathy was kept in mind, these findings supported a diagnosis of bilateral toxic optic neuropathy. Arnica-30 is popularly used to accelerate wound healing, including after oculoplastic surgery. While homeopathic medicines are generally considered safe due to the very low concentrations involved, Arnica-30 may be neurotoxic if consumed internally in large quantities. PMID:22877081

  13. Amiodarone-Associated Optic Neuropathy: A Critical Review

    PubMed Central

    Passman, Rod S.; Bennett, Charles L.; Purpura, Joseph M.; Kapur, Rashmi; Johnson, Lenworth N.; Raisch, Dennis W.; West, Dennis P.; Edwards, Beatrice J.; Belknap, Steven M.; Liebling, Dustin B.; Fisher, Mathew J.; Samaras, Athena T.; Jones, Lisa-Gaye A.; Tulas, Katrina-Marie E.; McKoy, June M.

    2011-01-01

    Although amiodarone is the most commonly prescribed antiarrhythmic drug, its use is limited by serious toxicities, including optic neuropathy. Current reports of amiodarone associated optic neuropathy identified from the Food and Drug Administration's Adverse Event Reporting System (FDA-AERS) and published case reports were reviewed. A total of 296 reports were identified: 214 from AERS, 59 from published case reports, and 23 from adverse events reports for patients enrolled in clinical trials. Mean duration of amiodarone therapy before vision loss was 9 months (range 1-84 months). Insidious onset of amiodarone associated optic neuropathy (44%) was the most common presentation, and nearly one-third were asymptomatic. Optic disc edema was present in 85% of cases. Following drug cessation, 58% had improved visual acuity, 21% were unchanged, and 21% had further decreased visual acuity. Legal blindness (< 20/200) was noted in at least one eye in 20% of cases. Close ophthalmologic surveillance of patients during the tenure of amiodarone administration is warranted. PMID:22385784

  14. A challenging differential diagnosis of optic neuropathy in ED: CSD.

    PubMed

    Ak, Rohat; Doganay, Fatih; Akoglu, Ebru Unal; Cimilli Ozturk, Tuba

    2015-01-01

    Optic neuropathy due to cat scratch disease (CSD) is a rare occurrence associated with macular star formation and is characterised by sudden mostly unilateral painless loss of vision. The aetiological agent in CSD is Bartonella henselae. Ocular complications present in up to 10% of patients and include neuroretinitis, conjunctivitis or uveitis. Ocular bartonelosis is usually self-limited. A case of a man patient with neuroretinitis caused by B. henselae is reported. PMID:26077806

  15. Surveillance of traumatic optic neuropathy in the UK

    Microsoft Academic Search

    V Lee; R L Ford; W Xing; C Bunce; B Foot

    2010-01-01

    AimsThe aim of this study is to provide epidemiological data on the incidence, aetiology, management, and visual outcome in traumatic optic neuropathy (TON) in the UK.MethodsPatients with TON were identified prospectively by population-based active surveillance through the British Ophthalmic Surveillance Unit over a 2-year period with data obtained from an incident questionnaire and follow-up questionnaire sent to positive reporters.ResultsIncident and

  16. Posterior ischemic optic neuropathy in the setting of posterior reversible encephalopathy syndrome and hypertensive emergency.

    PubMed

    Joos, Zachary P; Adesina, Ore-Ofe O; Katz, Bradley J

    2014-06-01

    We present the magnetic resonance imaging findings of posterior ischemic optic neuropathy in a patient with posterior reversible encephalopathy syndrome secondary to hypertensive emergency. PMID:24647142

  17. Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

    PubMed Central

    Yu-Wai-Man, Patrick; Griffiths, Philip G.; Chinnery, Patrick F.

    2011-01-01

    Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic neuropathies in the general population. Both disorders share striking pathological similarities, marked by the selective loss of retinal ganglion cells (RGCs) and the early involvement of the papillomacular bundle. Three mitochondrial DNA (mtDNA) point mutations; m.3460G>A, m.11778G>A, and m.14484T>C account for over 90% of LHON cases, and in DOA, the majority of affected families harbour mutations in the OPA1 gene, which codes for a mitochondrial inner membrane protein. Optic nerve degeneration in LHON and DOA is therefore due to disturbed mitochondrial function and a predominantly complex I respiratory chain defect has been identified using both in vitro and in vivo biochemical assays. However, the trigger for RGC loss is much more complex than a simple bioenergetic crisis and other important disease mechanisms have emerged relating to mitochondrial network dynamics, mtDNA maintenance, axonal transport, and the involvement of the cytoskeleton in maintaining a differential mitochondrial gradient at sites such as the lamina cribosa. The downstream consequences of these mitochondrial disturbances are likely to be influenced by the local cellular milieu. The vulnerability of RGCs in LHON and DOA could derive not only from tissue-specific, genetically-determined biological factors, but also from an increased susceptibility to exogenous influences such as light exposure, smoking, and pharmacological agents with putative mitochondrial toxic effects. Our concept of inherited mitochondrial optic neuropathies has evolved over the past decade, with the observation that patients with LHON and DOA can manifest a much broader phenotypic spectrum than pure optic nerve involvement. Interestingly, these phenotypes are sometimes clinically indistinguishable from other neurodegenerative disorders such as Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and multiple sclerosis, where mitochondrial dysfunction is also thought to be an important pathophysiological player. A number of vertebrate and invertebrate disease models has recently been established to circumvent the lack of human tissues, and these have already provided considerable insight by allowing direct RGC experimentation. The ultimate goal is to translate these research advances into clinical practice and new treatment strategies are currently being investigated to improve the visual prognosis for patients with mitochondrial optic neuropathies. PMID:21112411

  18. Radiation-induced optic neuropathy: A magnetic resonance imaging study

    SciTech Connect

    Guy, J.; Mancuso, A.; Beck, R.; Moster, M.L.; Sedwick, L.A.; Quisling, R.G.; Rhoton, A.L. Jr.; Protzko, E.E.; Schiffman, J. (Univ. of Florida, Gainesville (USA))

    1991-03-01

    Optic neuropathy induced by radiation is an infrequent cause of delayed visual loss that may at times be difficult to differentiate from compression of the visual pathways by recurrent neoplasm. The authors describe six patients with this disorder who experienced loss of vision 6 to 36 months after neurological surgery and radiation therapy. Of the six patients in the series, two had a pituitary adenoma and one each had a metastatic melanoma, multiple myeloma, craniopharyngioma, and lymphoepithelioma. Visual acuity in the affected eyes ranged from 20/25 to no light perception. Magnetic resonance (MR) imaging showed sellar and parasellar recurrence of both pituitary adenomas, but the intrinsic lesions of the optic nerves and optic chiasm induced by radiation were enhanced after gadolinium-diethylenetriaminepenta-acetic acid (DTPA) administration and were clearly distinguishable from the suprasellar compression of tumor. Repeated MR imaging showed spontaneous resolution of gadolinium-DTPA enhancement of the optic nerve in a patient who was initially suspected of harboring recurrence of a metastatic malignant melanoma as the cause of visual loss. The authors found the presumptive diagnosis of radiation-induced optic neuropathy facilitated by MR imaging with gadolinium-DTPA. This neuro-imaging procedure may help avert exploratory surgery in some patients with recurrent neoplasm in whom the etiology of visual loss is uncertain.

  19. Traumatic optic neuropathy—Clinical features and management issues

    PubMed Central

    Yu-Wai-Man, Patrick

    2015-01-01

    Traumatic optic neuropathy (TON) is an uncommon cause of visual loss following blunt or penetrating head trauma, but the consequences can be devastating, especially in cases with bilateral optic nerve involvement. Although the majority of patients are young adult males, about 20% of cases occur during childhood. A diagnosis of TON is usually straightforward based on the clinical history and examination findings indicative of an optic neuropathy. However, the assessment can be difficult when the patient’s mental status is impaired owing to severe trauma. TON frequently results in profound loss of central vision, and the final visual outcome is largely dictated by the patient’s baseline visual acuities. Other poor prognostic factors include loss of consciousness, no improvement in vision after 48 hours, the absence of visual evoked responses, and evidence of optic canal fractures on neuroimaging. The management of TON remains controversial. Some clinicians favor observation alone, whereas others opt to intervene with systemic steroids, surgical decompression of the optic canal, or both. The evidence base for these various treatment options is weak, and the routine use of high-dose steroids or surgery in TON is not without any attendant risks. There is a relatively high rate of spontaneous visual recovery among patients managed conservatively, and the possible adverse effects of intervention therefore need to be even more carefully considered in the balance.

  20. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies.

    PubMed

    Carelli, Valerio; Ross-Cisneros, Fred N; Sadun, Alfredo A

    2002-05-01

    Selective degeneration of the smallest fibers (papillo-macular bundle) of the human optic nerve occurs in a large number of optic neuropathies characterized primarily by loss of central vision. The pathophysiology that underlies this peculiar pattern of cell involvement probably reflects different forms of genetic and acquired mitochondrial dysfunction. Maternally inherited Leber's hereditary optic neuropathy (LHON), dominant optic atrophy (Kjer disease), the optic atrophy of Leigh's syndrome, Friedreich ataxia and a variety of other conditions are examples of inherited mitochondrial disorders with different etiologies. Tobacco-alcohol amblyopia (TAA), the Cuban epidemic of optic neuropathy (CEON) and other dietary (Vitamins B, folate deficiencies) optic neuropathies, as well as toxic optic neuropathies such as due to chloramphenicol, ethambutol, or more rarely to carbon monoxide, methanol and cyanide are probably all related forms of acquired mitochondrial dysfunction. Biochemical and cellular studies in LHON point to a partial defect of respiratory chain function that may generate either an ATP synthesis defect and/or a chronic increase of oxidative stress. Histopathological studies in LHON cases and a rat model mimicking CEON revealed a selective loss of retinal ganglion cells (RGCs) and the corresponding axons, particularly in the temporal-central part of the optic nerve. Anatomical peculiarities of optic nerve axons, such as the asymmetric pattern of myelination, may have functional implications on energy dependence and distribution of mitochondrial populations in the different sections of the nerve. Histological evidence suggests impaired axonal transport of mitochondria in LHON and in the CEON-like rat model, indicating a possible common pathophysiology for this category of optic neuropathies. Histological evidence of myelin pathology in LHON also suggests a role for oxidative stress, possibly affecting the oligodendrocytes of the optic nerves. PMID:11850115

  1. A Histopathologic and Morphometric Differentiation of Nerves in Optic Nerve Hypoplasia and Leber Hereditary Optic Neuropathy

    Microsoft Academic Search

    Hossein G. Saadati; Hugo Y. Hsu; Keith B. Heller; Alfredo A. Sadun

    Objectives: To characterize and quantitate optic nerve histopathologic and morphometric differences between optic nerve hypoplasia (ONH) as an early and congeni- tal form of intrinsic axonal loss and Leber hereditary op- tic neuropathy (LHON) as a late and acquired form of intrinsic axonal loss. Materials and Methods: Optic nerves from 3 sources were examined: a 42-year-old healthy woman (control), a

  2. Automated Peripheral Neuropathy Assessment Using Optical Imaging and Foot Anthropometry.

    PubMed

    Siddiqui, Hafeez-U R; Spruce, Michelle; Alty, Stephen R; Dudley, Sandra

    2015-08-01

    A large proportion of individuals who live with type-2 diabetes suffer from plantar sensory neuropathy. Regular testing and assessment for the condition is required to avoid ulceration or other damage to patient's feet. Currently accepted practice involves a trained clinician testing a patient's feet manually with a hand-held nylon monofilament probe. The procedure is time consuming, labor intensive, requires special training, is prone to error, and repeatability is difficult. With the vast increase in type-2 diabetes, the number of plantar sensory neuropathy sufferers has already grown to such an extent as to make a traditional manual test problematic. This paper presents the first investigation of a novel approach to automatically identify the pressure points on a given patient's foot for the examination of sensory neuropathy via optical image processing incorporating plantar anthropometry. The method automatically selects suitable test points on the plantar surface that correspond to those repeatedly chosen by a trained podiatrist. The proposed system automatically identifies the specific pressure points at different locations, namely the toe (hallux), metatarsal heads and heel (Calcaneum) areas. The approach is generic and has shown 100% reliability on the available database used. The database consists of Chinese, Asian, African, and Caucasian foot images. PMID:26186748

  3. Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy

    Microsoft Academic Search

    M Wakakura; J Yokoe

    1995-01-01

    AIMS\\/BACKGROUND--Pupillary light response is usually defective in all types of optic neuropathy. However, the authors have observed in patients with Leber's hereditary optic neuropathy (LHON) relatively normal light response, with consequent misdiagnosis psychogenic visual loss in some cases. To confirm this clinical impression, afferent pupillary defect was assessed by measurement of adjusted constriction amplitude (CA) and escape rate (ER) by

  4. [Severe and reversible optic neuropathy by ethambutol and isoniazid].

    PubMed

    Rodríguez-Marco, N A; Solanas-Alava, S; Ascaso, F J; Martínez-Martínez, L; Rubio-Obanos, M T; Andonegui-Navarro, J

    2014-01-01

    Ethambutol and isoniazid are antimicrobial agents used to treat multi-drug-resistant tuberculosis. The most commonly recognized toxic effect of these drugs is optic neuropathy, usually manifesting as a decrease in visual acuity, deficits in colour vision and cecocentral scotomas. This study presents the case of a 59-year-old Nigerian woman diagnosed of multi-drug-resistant tuberculosis who developed a severe bilateral optic neuropathy induced by ethambutol and isoniazid. Ophthalmologic examination revealed normal intraocular pressure, normal funduscopic examination and normal biomicroscopy. Automated visual field revealed 360ş peripheral constriction and central scotoma. Magnetic resonance images of the brain and orbits were normal. Ten months after suspending treatment, the patient recovered complete visual function. Visual loss is a rare complication that can be related to ethambutol and isoniazid toxicity. Both eyes are usually symmetrically affected with deficits in colour vision and cecocentral scotoma. For successful treatment of visual loss, it is important to make a differential diagnosis between infection and adverse effects of anti-TB drugs. Ophthalmological examination is thus important before and after treatment. PMID:25189987

  5. Traumatic optic neuropathy: a review of 24 patients

    PubMed Central

    Lee, Kok Foo; Muhd Nor, Nor Idahriani; Yaakub, Azhany; Wan Hitam, Wan Hazabbah

    2010-01-01

    AIM To evaluate the clinical presentations of traumatic optic neuropathy and to assess the visual outcome of three groups of patients managed differently (conservative, intravenous corticosteroids only and combination of intravenous and oral corticosteroids) at an academic tertiary care referral centre. METHODS A retrospective study was conducted involving 24 consecutive patients (27 eyes) with traumatic optic neuropathy attending Hospital Universiti Sains Malaysia from January 2007 till December 2009. RESULTS Twenty-four patients (27 eyes) were included. All cases involved were males. Mean age was 33 years old. Motor vehicle accident was the major cause (83.3%). Both eyes were equally involved. Most of the eyes had poor vision on presentation (HM-NPL, 81.5%) with associated periorbital haematoma (22 eyes) and subconjunctival haemorrhage (20 eyes). Majority of patients (19 patients, 79.2%) presented with more than one bony fracture of skull or orbit and 5 patients (20.8%) had no fractures. None of the patients had evidence of optic nerve compression on CT scans or MRI done. Eleven patients (45.8%) had been treated with intravenous and oral corticosteroids. The other 7 patients (29.2%) were treated conservatively and the third group (6 patients, 25.0%) was on intravenous corticosteroids only. Eleven of 12 eyes (91.7%) treated with intravenous and oral corticosteroids had shown 1 line improvement of visual acuity. Those eyes treated conservatively (77.8%) had shown 1 line improvement of visual acuity. As for patients treated with intravenous corticosteroids only, four patients remained NPL, one patient had mild visual improvement and the other one's vision remained the same. The visual improvement in patients treated with conservative management was not significant (P=0.386). Patients treated with intravenous corticosteroids alone have shown no visual improvement statistically(P<0.05). Patients treated with intravenous followed by oral corticosteroids had significant visual improvement (P<0.05). There was no statistically significant difference in visual outcome between patients treated with corticosteroids and patients treated conservatively (P=0.368). No patient underwent surgical decompression of the optic nerve. In this series, the follow up ranges from 6 months to 3 years. CONCLUSION Most of the traumatic optic neuropathy patients presented with periorbital haematoma, subconjunctival haemorrhage and orbital wall fractures. Patients treated with intravenous followed by oral corticosteroids have better visual outcome compared to conservative management. PMID:22553547

  6. Can intramuscular corticosteroid injection cause nonarteritic anterior ischemic optic neuropathy?

    PubMed Central

    Bakbak, Berker; Ozturk, Banu Turgut; Gedik, Sansal; Koktekir, Bengu Ekinci; Gonul, Saban

    2013-01-01

    A 56-year-old man noted a sudden decrease of vision in his right eye 4 hours after intramuscular triamcinolone acetonide (TA) injection. A diagnosis of unilateral nonarteritic anterior ischemic optic neuropathy (NAION) was made, and the patient was counseled to discontinue using TA. Examination for possible risk factors revealed controlled hypertension. Final visual acuity was finger counting at 1 m, and the optic disc was pale in his right eye. This is the first reported case of unilateral NAION that has occurred in a patient after intramuscular corticosteroid injection. Although a cause-and-effect relationship is difficult to prove, the short duration between the TA injection and the NAION is noteworthy. The history of corticosteroid injection should be questioned in cases with predisposing conditions such as hypertension. PMID:23569357

  7. Traumatic optic neuropathy: facial CT findings affecting visual acuity.

    PubMed

    Reddy, Ramachandra P; Bodanapally, Uttam K; Shanmuganathan, Kathirkamanathan; Van der Byl, Giulia; Dreizin, David; Katzman, Lee; Shin, Robert Kang

    2015-08-01

    The purpose of this study was to determine the relationship between admission visual acuity (VA) and facial computed tomographic (CT) findings of traumatic optic neuropathy (TON). We retrospectively evaluated CT findings in 44 patients with TON. Mid-facial fractures, extraconal and intraconal hematomas, hematomas along the optic nerve and the posterior globe, optic canal fracture, nerve impingement by optic canal fracture fragment, and extraconal and intraconal emphysema were evaluated. CT variables of patients with and without available VA were compared. VA was converted into logarithm of the minimum angle of resolution (logMAR) to provide a numeric scale for the purpose of statistical analysis. The risk factors related to poor VA on univariate analysis were as follows: intraconal hematoma [median logMAR -4.7 versus -1.15, p?=?0.016] and hematoma along the optic nerve [median -4.7 versus -1.3, p?=?0.029]. Intraconal hematoma was the best predictor of poor VA (coefficient, 1.01; SE, 0.34; and p?=?0.008). Receiver operating characteristic (ROC) curve analysis showed that the presence of intraconal hematoma and hematoma along the optic nerve predicted poor VA (logMAR of -3.7 or lower) with an area under the curve of 0.8 and 0.85, respectively. TON patients at higher risk of severe visual impairment may be identified based on admission facial CT. PMID:25563705

  8. Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?

    Microsoft Academic Search

    Valerio Carelli; Chiara La Morgia; Luisa Iommarini; Rosanna Carroccia; Marina Mattiazzi; Simonetta Sangiorgi; Sabrina Farne’; Alessandra Maresca; Beatrice Foscarini; Lucia Lanzi; Marcello Amadori; Marzio Bellan; Maria Lucia Valentino

    2007-01-01

    Ocular involvement is a prevalent feature in mitochondrial diseases. Leber’s hereditary optic neuropathy (LHON) and dominant\\u000a optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point\\u000a mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations\\u000a in the nuclear-encoded protein OPA1, which is

  9. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.

    PubMed Central

    Chalmers, R M; Riordan-Eva, P; Wood, N W

    1997-01-01

    Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (HMSN type VI) has been described, and the first in which electrophysiological studies have been reported. PMID:9120454

  10. Ocular ischemic syndrome and ischemic optic neuropathy in Takayasu arteritis.

    PubMed

    Malik, Tayyaba Gul; Khalil, Muhammad; Ijaz, Asad Ullah; Bhatti, Muhammad Moeen

    2015-04-01

    Ocular Ischemic Syndrome (OIS) is a disorder, which consists of constellation of signs and symptoms secondary to chronic ocular hypoperfusion. We report a case of 35 years old Pakistani female who presented to us with gradual fall of vision in both eyes. On examination, she had bilateral OIS and ischemic optic neuropathy. The patient had past history of transient ischemic attack and facial palsy almost 20 years back. We referred her to physician for the diagnosis of Takayasu arteritis associated with relapsing polychondritis. She was given 60 mg of dexamethasone per day as initial treatment. At her last follow-up after approximately 3 months, she was quite comfortable systemically and her general condition was improved. Unfortunately, her vision did not improve. These two autoimmune diseases are rarely reported together in the same patient in Pakistan. Whether this association is rare or is underdiagnosed still remains to be answered. PMID:25933464

  11. High doses of cobalt induce optic and auditory neuropathy.

    PubMed

    Apostoli, Pietro; Catalani, Simona; Zaghini, Anna; Mariotti, Andrea; Poliani, Pietro Luigi; Vielmi, Valentina; Semeraro, Francesco; Duse, Sarah; Porzionato, Andrea; Macchi, Veronica; Padovani, Alessandro; Rizzetti, Maria Cristina; De Caro, Raffaele

    2013-09-01

    The adverse biological effects of continuous exposure to cobalt and chromium have been well defined. In the past, this toxicity was largely an industrial issue concerning workers exposed in occupational setting. Nevertheless, recent reports have described a specific toxicity mediated by the high levels of cobalt and chromium released by metallic prostheses, particularly in patients who had received hip implants. Clinical symptoms, including blindness, deafness and peripheral neuropathy, suggest a specific neurotropism. However, little is known about the neuropathological basis of this process, and experimental evidence is still lacking. We have investigated this issue in an experimental setting using New Zealand White rabbits treated with repeated intravenous injections of cobalt and chromium, alone or in combination. No evident clinical or pathological alterations were associated after chromium administration alone, despite its high levels in blood and tissue while cobalt-chromium and cobalt-treated rabbits showed clinical signs indicative of auditory and optic system toxicity. On histopathological examination, the animals showed severe retinal and cochlear ganglion cell depletion along with optic nerve damage and loss of sensory cochlear hair cells. Interestingly, the severity of the alterations was related to dosages and time of exposure. These data confirmed our previous observation of severe auditory and optic nerve toxicity in patients exposed to an abnormal release of cobalt and chromium from damaged hip prostheses. Moreover, we have identified the major element mediating neurotoxicity to be cobalt, although the molecular mechanisms mediating this toxicity still have to be defined. PMID:23069009

  12. Post-traumatic optic neuropathy: our surgical and medical protocol.

    PubMed

    Emanuelli, E; Bignami, M; Digilio, E; Fusetti, S; Volo, T; Castelnuovo, P

    2014-12-01

    Post-traumatic optic neuropathy (TON) is a rare, but very much feared event. It is a traumatic injury of the optic nerve at any level along its course (often inside the optic canal), with partial or total loss of visual acuity, temporarily or permanently. Until now, an univocal treatment strategy does not exist. The clinical records of 26 patients, treated from 2002 to 2013, were reviewed. The most frequent cause of injury was road traffic accident (63 %), followed by iatrogenic damage, work injuries, sport or home accidents. All patients underwent pre-operative ophthalmological evaluation, neuro-imaging (angio-CT or angio-MRI scans) and systemic corticosteroid therapy. All patients required a surgical treatment, due to poor response to medical therapy; it consisted of an endonasal endoscopic decompression of the intracanalicular segment of the optic nerve, performed by removing the bony wall of the optical canal and releasing the perineural sheath. Improvement of visual acuity was reached in 65 % of cases. No minor or major complication occurred intra- or post-operative, with a maximum follow-up time of 41 months. An improvement in visual acuity was achieved, although very limited in some cases, when surgery was performed as close as possible to the traumatic event. In the literature, there is no evidence-based data evaluating both of the two main treatment options (medical therapy versus surgical decompression), to state which is the gold standard in the treatment for TON. We discuss the pro and cons of our protocol: medical endovenous steroid treatment, within 8 h of injury, and endoscopic surgical decompression within 12-24 since the beginning of medical therapy, represent the best solution in terms of risk-benefit ratio for the patients. PMID:25472815

  13. Successful Combination Therapy with Rituximab and Glucocorticoids for Autoimmune Optic Neuropathy

    PubMed Central

    Sasaki, Shoichi; Asahara, Daisuke; Kaneko, Kaichi; Komatsumoto, Satoru

    2015-01-01

    Patient: Female, 77 Final Diagnosis: Autoimmune optic neuropathy Symptoms: Vision loss in the left eye Medication: — Clinical Procedure: Treatment with Rituximab and Glucocortioids Specialty: Ophthalmology and Internal Medicine Objective: Unusual or unexpected effect of treatment Background: Autoimmune optic neuropathy is optic neuropathy caused by an autoimmune mechanism. As treatment, steroid is usually used. If steroid is ineffective to improve visual function, other immunosuppressive agents are used as needed. Rituximab is one of molecular target agents and is now used as treatment for several types of autoimmune disorders. Case Report: A 77-year-old woman presented with vision loss in her left eye. Her past medical history included disturbances of multiple organs. Laboratory tests revealed positive myeloperoxidase-anti-neutrophil cytoplasmic antibody. We assumed that her vision loss was caused by autoimmune optic neuropathy and put her on high-dose glucocorticoid therapy. Her visual function quickly re-deteriorated after high-dose glucocorticoid therapy discontinuation. To achieve vision improvement, we added rituximab to her treatment regimen. Her visual acuity recovered to almost 20/20 within a week later. She received other 3 rituximab-infusions and her visual acuity remained 20/20 while tapering glucocorticoid. Conclusions: Autoimmune optic neuropathy may result in blindness if treatment fails. Rituximab may be a therapeutic option for autoimmune optic neuropathy and may produce immediate response. PMID:26057570

  14. Magnetic resonance imaging of luxury perfusion of the optic nerve head in anterior ischemic optic neuropathy.

    PubMed

    Yovel, Oren S; Katz, Miriam; Leiba, Hana

    2012-09-01

    A 49-year-old woman with painless reduction in visual acuity in her left eye was found to have nonarteritic anterior ischemic optic neuropathy (NAION). Fluorescein angiography revealed optic disc capillary leakage consistent with "luxury perfusion." Contrast-enhanced FLAIR magnetic resonance imaging (MRI) showed marked enhancement of the left optic disc. Resolution of the optic disc edema and the MRI abnormalities followed a similar time course. This report appears unique in documenting the MRI findings of luxury perfusion in NAION. PMID:22573229

  15. Pattern Visual Evoked Cortical Potentials in Patients With Toxic Optic Neuropathy Caused by Toluene Abuse

    Microsoft Academic Search

    Masahiro Kiyokawa; Atsushi Mizota; Michihiko Takasoh; Emiko Adachi-Usami

    1999-01-01

    Purpose: Electrophysiological evaluation of the visual function of patients with toxic neuropathy caused by toluene abuse.Methods: Fifteen patients (mean age 25.6 years, eight men and seven women) were diagnosed with bilateral optic neuropathy. Pattern visual evoked cortical potentials (PVECPs) and clinical symptoms were investigated.Results: Visual acuities at the initial visit were less than 0.1 in 5 cases and 0.1–1.0 in

  16. Successful Combination Therapy with Rituximab and Glucocorticoids for Autoimmune Optic Neuropathy.

    PubMed

    Sasaki, Shoichi; Asahara, Daisuke; Kaneko, Kaichi; Komatsumoto, Satoru

    2015-01-01

    BACKGROUND Autoimmune optic neuropathy is optic neuropathy caused by an autoimmune mechanism. As treatment, steroid is usually used. If steroid is ineffective to improve visual function, other immunosuppressive agents are used as needed. Rituximab is one of molecular target agents and is now used as treatment for several types of autoimmune disorders. CASE REPORT A 77-year-old woman presented with vision loss in her left eye. Her past medical history included disturbances of multiple organs. Laboratory tests revealed positive myeloperoxidase-anti-neutrophil cytoplasmic antibody. We assumed that her vision loss was caused by autoimmune optic neuropathy and put her on high-dose glucocorticoid therapy. Her visual function quickly re-deteriorated after high-dose glucocorticoid therapy discontinuation. To achieve vision improvement, we added rituximab to her treatment regimen. Her visual acuity recovered to almost 20/20 within a week later. She received other 3 rituximab-infusions and her visual acuity remained 20/20 while tapering glucocorticoid. CONCLUSIONS Autoimmune optic neuropathy may result in blindness if treatment fails. Rituximab may be a therapeutic option for autoimmune optic neuropathy and may produce immediate response. PMID:26057570

  17. Hyperbaric oxygen in the treatment of radiation-induced optic neuropathy

    SciTech Connect

    Guy, J.; Schatz, N.J.

    1986-08-01

    Four patients with radiation-induced optic neuropathies were treated with hyperbaric oxygen. They had received radiation therapy for treatment of pituitary tumors, reticulum cell sarcoma, and meningioma. Two presented with amaurosis fugax before the onset of unilateral visual loss and began hyperbaria within 72 hours after development of unilateral optic neuropathy. Both had return of visual function to baseline levels. The others initiated treatment two to six weeks after visual loss occurred in the second eye and had no significant improvement of vision. Treatment consisted of daily administration of 100% oxygen under 2.8 atmospheres of pressure for 14-28 days. There were no medical complications of hyperbaria. While hyperbaric oxygen is effective in the treatment of radiation-induced optic neuropathy, it must be instituted within several days of deterioration in vision for restoration of baseline function.

  18. Anterior ischemic optic neuropathy and stroke with use of PDE5 inhibitors for erectile dysfunction: Cause or coincidence?

    Microsoft Academic Search

    John E. Carter

    2007-01-01

    The PDE-5 inhibitors sildenafil (Viagra) vardenafil (Levitra) and tadalafil (Cialis) have been taken by millions of men for erectile dysfunction. Transient visual symptoms are common but there also have been fourteen cases of nonarteritic anterior ischemic optic neuropathy (NAION) described in patients using these drugs as well as a few other vascular events. NAION is a common optic neuropathy in

  19. Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli)

    Microsoft Academic Search

    Cornelius Weiller; Andreas Ferbert

    1991-01-01

    Summary Clinical and electrophysiological findings are described in three patients with hereditary motor and sensory neuropathy in association with optic atrophy (HMSN VI). The optic atrophy was of the Leber type in a 15-year-old boy. In a 70-year-old patient, as in three members of his family, optic atrophy was associated with tapetoretinal degeneration. In addition to HMSN and optic atrophy

  20. Unilateral Optic Neuropathy and Acute Angle-Closure Glaucoma following Snake Envenomation

    PubMed Central

    Olcaysu, Osman Okan; Cadirci, Kenan; Durur Karakaya, Afak; Bayramlar, Huseyin

    2015-01-01

    Purpose. We aimed to describe a unique case in which a patient developed unilateral optic neuritis and angle-closure glaucoma as a result of snake envenomation. Case Report. Approximately 18 hours after envenomation, a 67-year-old female patient described visual impairment and severe pain in her left eye (LE). The patient's best corrected visual acuity was 10/10 in the RE and hand motion in the LE. Cranial magnetic resonance imaging showed signs of neuropathy in the left optic nerve. In the LE, corneal haziness, closure of the iridocorneal angle, and mild mydriasis were observed and pupillary light reflex was absent. Intraocular pressure was 25?mmHg and 57?mmHg in the RE and LE, respectively. The patient was diagnosed with acute angle-closure glaucoma in the LE. Optic neuropathy was treated with intravenous pulse methylprednisolone. Left intraocular pressure was within normal range starting on the fourth day. One month after the incident, there was no sign of optic neuropathy; relative afferent pupillary defect and optic nerve swelling disappeared. Conclusions. Patients with severe headache and visual loss after snake envenomation must be carefully examined for possible optic neuropathy and angle-closure glaucoma. Early diagnosis and treatment of these cases are necessary to prevent permanent damage to optic nerves. PMID:25705536

  1. Radiation optic neuropathy after megavoltage external-beam irradiation: Analysis of time-dose factors

    SciTech Connect

    Parsons, J.T.; Bova, F.J.; Million, R.R. [Univ. of Florida College of Medicine, Gainesville, FL (United States)] [and others

    1994-11-15

    To investigate the risk of radiation-induced optic neuropathy according to total radiotherapy dose and fraction size, based on both retrospective and prospectively collected data. Between October 1964 and May 1989, 215 optic nerves in 131 patients received fractionated external-beam irradiation during the treatment of primary extracranial head and neck tumors. All patients had a minimum of 3 years of ophthalmologic follow-up (range, 3 to 21 years). The clinical end point was visual acuity of 20/100 or worse as a result of optic nerve injury. Anterior ischemic optic neuropathy developed in five nerves (at mean and median times of 32 and 30 months, respectively, and a range of 2-4 years). Retrobulbar optic neuropathy developed in 12 nerves (at mean and median times of 47 and 28 months, respectively, and a range of 1-14 years). No injuries were observed in 106 optic nerves that received a total dose of <59 Gy. Among nerves that received doses of {ge} 60 Gy, the dose per fraction was more important than the total dose in producing optic neuropathy. The 15-year actuarial risk of optic compared with 47% when given in fraction sizes {ge}1.9 Gy. The data also suggest an increased risk of optic nerve injury with increasing age. As there is no effective treatment of radiation-induced optic neuropathy, efforts should be directed at its prevention by minimizing the total dose, paying attention to the dose per fraction to the nerve, and using reduced field techniques where appropriate to limit the volume of tissues that receive high-dose irradiation. 32 refs., 5 figs., 5 tabs.

  2. Unilateral compressive optic neuropathy due to skull hyperostosis secondary to nutritional vitamin A deficiency

    PubMed Central

    Zayed, Mohammed G.; Hickman, Simon J.; Batty, Ruth; McCloskey, Eugene V.; Pepper, Irene M.

    2015-01-01

    Summary We report a 17-year-old boy who presented with a chronic left unilateral optic neuropathy. Computerized tomography and magnetic resonance imaging demonstrated compression of the left optic nerve due to skull hyperostosis. He was found to be profoundly vitamin A deficient secondary to an unusual diet consisting predominantly of potato chips and crisps. Skull hyperostosis with cranial neuropathies and other neurological abnormalities has been described in growing animals fed vitamin A deficient diets but has not been previously reported in humans. PMID:26136803

  3. Anterior ischemic optic neuropathy due to biopsy-proven giant cell arteritis in Thai patients

    PubMed Central

    Attaseth, Taweevat; Vanikieti, Kavin; Poonyathalang, Anuchit; Preechawat, Pisit; Jindahra, Panitha; Wattanatranon, Duangkamon

    2015-01-01

    Giant cell arteritis is a systemic granulomatous vasculitis affecting medium to large arteries. An arteritic anterior ischemic optic neuropathy is the most common cause of permanent visual loss. Giant cell arteritis is very rare among Asians. We report six patients with biopsy-proven arteritic anterior ischemic optic neuropathy. Demographic data, clinical manifestations, laboratory findings, treatment, and visual outcome are described in detail and compared with Caucasian patients. We found no differences in any clinical features except for sex preference. Moreover, perioptic nerve sheath enhancement was observed in half of our patients. PMID:26109841

  4. Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs

    Microsoft Academic Search

    K D MacDermot; R W Walker

    1987-01-01

    A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to

  5. Non-arteritic anterior ischaemic optic neuropathy and the treatment of erectile dysfunction

    Microsoft Academic Search

    G McGwin Jr; M S Vaphiades; C Owsley

    2010-01-01

    Aim: To determine the association between Viagra (sildenafil) and Cialis (tadalafil) and non-arteritic anterior ischaemic optic neuropathy (NAION). Methods: A retrospective matched case-control study was conducted. 38 cases of NAION in males were identified from an academic ophthalmology practice in Birmingham, Alabama, and matched (on age) to 38 controls without a history of NAION. Self reported information regarding past and

  6. Hyperhomocysteinaemia in young patients with non-arteritic anterior ischaemic optic neuropathy

    Microsoft Academic Search

    Aki Kawasaki; Valerie A Purvin; Richard A Burgett

    1999-01-01

    BACKGROUND\\/AIMElevated plasma homocysteine is a newly identified vascular risk factor among patients under age 55 years with cerebrovascular, cardiovascular, or peripheral vascular disease. This study sought to evaluate retrospectively the plasma homocysteine status among healthy younger patients with ischaemic optic disc disease.METHODS12 non-diabetic patients who had been diagnosed with non-arteritic anterior ischaemic optic neuropathy (NAION) before the age of 50

  7. Outcome of Traumatic Optic Neuropathy. Comparison Between Surgical and Nonsurgical Treatment

    Microsoft Academic Search

    S. Mine; I. Yamakami; A. Yamaura; K. Hanawa; M. Ikejiri; A. Mizota; E. Adachi-Usami

    1999-01-01

    Summary  ?34 patients with indirect traumatic optic neuropathy were studied to identify factors affecting outcome and surgical indications.\\u000a 12 cases (13 eyes = group A) underwent surgery and 24 patients (24 eyes = group B) were managed without surgery. Age, optic\\u000a canal fracture, visual acuity before treatment (initial visual acuity) and days until surgery (only group A) were employed\\u000a as variables.

  8. Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

    Microsoft Academic Search

    F. Perez; O. Anne; S. Debruxelles; P. Menegon; V. Lambrecq; D. Lacombe; M. L. Martin-Negrier; B. Brochet; C. Goizet

    2009-01-01

    Leber’s hereditary optic neuropathy (LHON), a mitochondrial disease, is clinically characterized by a bilateral subacute loss of central vision consecutive to optic nerve involvement. In some cases of LHON, neurological features are reported including multiple sclerosis-like (MSL) phenotype. We report one additional male patient displaying LHON-MSL associated with the prevalent G11778A mutation and review the cases with expendable data published

  9. Diagnosis and pathogenesis of glaucomatous optic neuropathy: morphological aspects 1 1 1 1Supported by Deutsche Forschungsgemeinschaft (SFB 539)

    Microsoft Academic Search

    Jost B. Jonas; Wido M. Budde

    2000-01-01

    Glaucomatous optic neuropathy is classified by morphologic changes in the intrapapillary and parapapillary region of the optic nerve head and the retinal nerve fibre layer. These changes can be evaluated using descriptive optic nerve head variables which are the size and shape of the optic disc; size, shape and pallor of the neuroretinal rim; size of the optic cup in

  10. Behaviour of disc oedema during and after amiodarone optic neuropathy: case report.

    PubMed

    Martínez-LóPez-Portillo, Med Alejandro; Martínez-Gamero, Bertha O; Mohamed-Noriega, Jibran; Cavazos-Adame, Med Humberto; Mohamed-Hamsho, Med Jesús

    2014-04-01

    A 73-year-old woman with atrial fibrillation treated with Amiodarone presented with Optic Disc oedema in right eye (OD). Using Optical Coherence Tomography (OCT) we describe the impact of this neuropathy on Retinal Nerve Fibre Layer (RNFL). At diagnosis RNFL average was of 188 ?m OD and 77 ?m in the left eye (OS), six months after discontinuation of the drug decreased to 40 ?m in OD and 76 ?m in OS. The RNFL average of OD presented a transient increase during the acute oedema that returned to normal levels during the first month after discontinuation of the drug and fell dramatically to 44 ?m at the second month and 40 ?m at the sixth month. We show there is axonal loss after amiodarone-associated optic neuropathy measured with OCT. The OCT may be used in these patients to document changes in RNFL in the follow-up. PMID:24959500

  11. Optic neuropathy associated with the use of over-the-counter sexual enhancement supplements

    PubMed Central

    Karli, Sapir Z; Liao, Sophie D; Carey, Andrew R; Lam, Byron L; Wester, Sara T

    2014-01-01

    This case report details an association of the use of over-the-counter sexual enhancement supplements with atypical optic neuropathy. A 42-year-old man presented with right-sided headache and vision loss of the right eye, which deteriorated to a single quadrant of hand motion over 11 days. Serial orbital magnetic resonance imaging scans demonstrated progressive orbital optic nerve enhancement extending into the optic canal despite high-dose steroid treatment. The patient eventually admitted to using several over-the-counter sexual enhancement supplements prior to the onset of symptoms and throughout the course of his steroid treatment, which he subsequently discontinued. His vision improved to 20/200 with an expanded visual field. Anterior ischemic optic neuropathy has been reported in association with phosphodiesterase (PDE)-5 inhibitor use, but visual loss in association with unregulated sexual enhancement supplements has not been studied. While one case cannot establish association, our case is suggestive of potential dangers of over-the-counter sexual enhancement supplements, which may contain PDE-5 inhibitors, “male hormones,” and “substances that enhance blood production.” The case also underscores the importance of obtaining a careful history of supplements in patients with optic neuropathies. PMID:25378904

  12. [Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].

    PubMed

    O?dak, Monika; Sciezy?ska, Aneta; Szulborski, Kamil; Szaflik, Jacek P; Szaflik, Jerzy

    2014-01-01

    Autosomal dominant optic nerve atrophy is the most frequent dominantly inherited optic neuropathy. The main causesof the disease are OPA1 gene mutations, which are detected in about 60% of patients. Encoded by the nuclear genome the OPA1 protein plays an important role in a wide variety of processes crucial to the proper functioning of mitochondria, the role of OPAl in many of them has been discovered recently. A detailed study of patients with mutations in the OPA1 gene has shown that about 20% of them present symptoms of a multiple system disease, which may include hearing loss, progressive external ophthalmoplegia, ataxia, myopathy, peripheral neuropathy, spastic paraparesis and multiple sclerosis-like illness. This clinical manifestation is difficult to differentiate from other neurodegenerative diseases, that is why genetic testing is very important in order to determine the molecular basis of the disease in these patients. PMID:25137924

  13. Single Intravitreal Aflibercept Injection for Unilateral Acute Nonarteritic Ischemic Optic Neuropathy

    PubMed Central

    Ayhan, Ziya; Kocao?lu, Gamze; Bajin, Meltem Söylev; Saatci, A. Osman

    2015-01-01

    Acute nonarteritic ischemic optic neuropathy (ANAION) is the most common optic neuropathy in the elderly population without a well-established treatment. A 67-year-old man with a sudden painless visual loss in his left eye of one-day duration was diagnosed to have left ANAION. Next day, 2?mg aflibercept injection was injected intravitreally in OS. Visual acuity improved to 7/10 from 1/10 a week after the injection. Mean retinal nerve fiber layer thickness (RNFLT) was reduced to 159,7??m from 182,4??m at the first week. Visual fields improved dramatically during the follow-up of three months. The aim of this study is to present a case having ANAION treated with a single intravitreal aflibercept injection and discuss the place of intravitreal anti-VEGF injections in the treatment of armamentarium of ANAION. PMID:25632361

  14. Optic neuropathy secondary to dasatinib in the treatment of a chronic myeloid leukemia case

    PubMed Central

    Monge, Katia Sotelo; Gálvez-Ruiz, Alberto; Alvárez-Carrón, Alberto; Quijada, César; Matheu, Anna

    2015-01-01

    The drug dasatinib is a new therapeutic option for patients with chronic myeloid leukemia (CML) as well as acute lymphocytic lymphoblastic leukemia (ALL). However, the scientific literature has not reached a consensus regarding the types of secondary ophthalmologic effects that this drug may have. In this study, we present the case of a 36-year-old male patient who was treated with dasatinib. Two and a half months later, this patient began to experience progressive visual loss in the superior visual field of both eyes. After ruling out various diagnostic options and performing extensive complementary tests, the suspected diagnosis was compatible with optic neuropathy secondary to dasatinib. The patient partially improved after stopping this medication and receiving oral corticosteroid treatment. Although secondary ophthalmological effects related to dasatinib are practically non-existent, our case is the first to report optic neuropathy secondary to this drug.

  15. Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

    PubMed Central

    Tucci, Arianna; Liu, Yo-Tsen; Preza, Elisabeth; Pitceathly, Robert D S; Chalasani, Annapurna; Plagnol, Vincent; Land, John M; Trabzuni, Daniah; Ryten, Mina; Jaunmuktane, Zane; Reilly, Mary M; Brandner, Sebastian; Hargreaves, Iain; Hardy, John; Singleton, Andrew B; Abramov, Andrey Y; Houlden, Henry

    2014-01-01

    Objective Charcot-Marie Tooth disease (CMT) forms a clinically and genetically heterogeneous group of disorders. Although a number of disease genes have been identified for CMT, the gene discovery for some complex form of CMT has lagged behind. The association of neuropathy and optic atrophy (also known as CMT type 6) has been described with autosomaldominant, recessive and X-linked modes of inheritance. Mutations in Mitofusin 2 have been found to cause dominant forms of CMT6. Phosphoribosylpyrophosphate synthetase-I mutations cause X-linked CMT6, but until now, mutations in the recessive forms of disease have never been identified. Methods We here describe a family with three affected individuals who inherited in an autosomal recessive fashion a childhood onset neuropathy and optic atrophy. Using homozygosity mapping in the family and exome sequencing in two affected individuals we identified a novel protein-truncating mutation in the C12orf65 gene, which encodes for a protein involved in mitochondrial translation. Using a variety of methods we investigated the possibility of mitochondrial impairment in the patients cell lines. Results We described a large consanguineous family with neuropathy and optic atrophy carrying a loss of function mutation in the C12orf65 gene. We report mitochondrial impairment in the patients cell lines, followed by multiple lines of evidence which include decrease of complex V activity and stability (blue native gel assay), decrease in mitochondrial respiration rate and reduction of mitochondrial membrane potential. Conclusions This work describes a mutation in the C12orf65 gene that causes recessive form of CMT6 and confirms the role of mitochondrial dysfunction in this complex axonal neuropathy. PMID:24198383

  16. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

    PubMed Central

    Ahola, Sofia; Isohanni, Pirjo; Euro, Liliya; Brilhante, Virginia; Palotie, Aarno; Pihko, Helena; Lönnqvist, Tuula; Lehtonen, Tanita; Laine, Jukka; Tyynismaa, Henna

    2014-01-01

    Objective: We report novel defects of mitochondrial translation elongation factor Ts (EFTs), with high carrier frequency in Finland and expand the manifestations of this disease group from infantile cardiomyopathy to juvenile neuropathy/encephalopathy disorders. Methods: DNA analysis, whole-exome analysis, protein biochemistry, and protein modeling. Results: We used whole-exome sequencing to find the genetic cause of infantile-onset mitochondrial cardiomyopathy, progressing to juvenile-onset Leigh syndrome, neuropathy, and optic atrophy in 2 siblings. We found novel compound heterozygous mutations, c.944G>A [p.C315Y] and c.856C>T [p.Q286X], in the TSFM gene encoding mitochondrial EFTs. The same p.Q286X variant was found as compound heterozygous with a splice site change in a patient from a second family, with juvenile-onset optic atrophy, peripheral neuropathy, and ataxia. Our molecular modeling predicted the coding-region mutations to cause protein instability, which was experimentally confirmed in cultured patient cells, with mitochondrial translation defect and lacking EFTs. Only a single TSFM mutation has been previously described in different populations, leading to an infantile fatal multisystem disorder with cardiomyopathy. Sequence data from 35,000 Finnish population controls indicated that the heterozygous carrier frequency of p.Q286X change was exceptionally high in Finland, 1:80, but no homozygotes were found in the population, in our mitochondrial disease patient collection, or in an intrauterine fetal death material, suggesting early developmental lethality of the homozygotes. Conclusions: We show that in addition to early-onset cardiomyopathy, TSFM mutations should be considered in childhood and juvenile encephalopathies with optic and/or peripheral neuropathy, ataxia, or Leigh disease. PMID:25037205

  17. Outer retinal abnormalities associated with inner retinal pathology in nonglaucomatous and glaucomatous optic neuropathies

    PubMed Central

    Werner, J S; Keltner, J L; Zawadzki, R J; Choi, S S

    2011-01-01

    Inner and outer retinal morphology were quantified in vivo for 6 nonglaucomatous and 10 glaucomatous optic neuropathy patients. Custom, ultrahigh-resolution imaging modalities were used to evaluate segmented retinal layer thickness in 3D volumes (Fourier-domain optical coherence tomography), cone photoreceptor density (adaptive optics fundus camera), and the length of inner and outer segments of cone photoreceptors (adaptive optics–optical coherence tomography). Quantitative comparisons were made with age-matched controls, or by comparing affected and nonaffected retinal areas defined by changes in visual fields. The integrity of outer retinal layers on optical coherence tomography B-scans and density of cone photoreceptors were correlated with visual field sensitivity at corresponding retinal locations following reductions in inner retinal thickness. The photoreceptor outer segments were shorter and exhibited greater variability in retinal areas associated with visual field losses compared with normal or less affected areas of the same patient's visual field. These results demonstrate that nonglaucomatous and glaucomatous optic neuropathies are associated with outer retinal changes following long-term inner retinal pathology. PMID:21293495

  18. Diabetic Peripheral Neuropathy

    Microsoft Academic Search

    Rachel Nardin; Roy Freeman

    Diabetic peripheral neuropathy is the most prevalent peripheral neuropathy in the Western world. It has been reported to affect\\u000a nearly 50% of people with diabetes (1,2). It is responsible for a significant proportion of the mortality and morbidity that accompany diabetes and ranks third in\\u000a lifetime expenditures associated with diabetic complications (3). Diabetic peripheral neuropathy was until recently thought to

  19. FokkerPlanck and Langevin analyses of noise accompanying the amplification of optical

    E-print Network

    Eisenstein, Gadi

    Fokker­Planck and Langevin analyses of noise accompanying the amplification of optical pulses Langevin equa- tion. Multicanonical Monte Carlo simulations ensure efficient calculations of the pdfs whose

  20. Visual recovery following optic nerve decompression for chronic compressive neuropathy

    Microsoft Academic Search

    Diederik O. Bulters; Emad Shenouda; Barrie T. Evans; Nijaguna Mathad; Dorothy A. Lang

    2009-01-01

    Purpose  Visual failure due to optic nerve compression is a common indication for decompressive surgery. Most data only refer to the\\u000a odds of improvement, deterioration or remaining the same. However, patients frequently wish to know more detail about the\\u000a outcomes of surgery. Our aim was to assess the visual outcome from optic nerve decompression for visual failure in detail\\u000a in order

  1. Peripheral Neuropathy

    MedlinePLUS

    NINDS Peripheral Neuropathy Information Page Condensed from Peripheral Neuropathy Fact Sheet Table of Contents (click to jump to sections) What is ... Organizations Additional resources from MedlinePlus What is Peripheral Neuropathy? Peripheral neuropathy describes damage to the peripheral nervous ...

  2. Diabetic Neuropathy

    MedlinePLUS

    NINDS Diabetic Neuropathy Information Page Table of Contents (click to jump to sections) What is Diabetic Neuropathy? Is there any treatment? ... Organizations Additional resources from MedlinePlus What is Diabetic Neuropathy? Diabetic neuropathy is a peripheral nerve disorder caused ...

  3. Leber's hereditary optic neuropathy associated with a multiple-sclerosis-like picture in a man.

    PubMed

    La Russa, Antonella; Cittadella, Rita; Andreoli, Virginia; Valentino, Paola; Trecroci, Francesca; Caracciolo, Manuela; Gallo, Olivier; Gambardella, Antonio; Quattrone, Aldo

    2011-06-01

    A 35-year-old young man displayed Leber's optic neuropathy (LHON) due to T14484C and multiple sclerosis (MS) phenotype that was dominated by symptoms and signs of spinal cord impairment. Magnetic resonance imaging (MRI) revealed demyelinating lesions extending from D6 to D11 in the spinal cord with gadolinium enhancement, while only three linear demyelinating lesions were seen on brain MRI. In the literature, a major involvement of the spinal cord was already reported in three of four male patients with the 14484 LHON mutation who developed MS, but the reasons of this peculiar association remain unknown, and further research in this area is needed. PMID:21685233

  4. [Interferon-alpha toxicity and reversible bilateral optical neuropathy: a timely withdrawal of the drug].

    PubMed

    Pérez-Carro, G; Fernández-Alonso, R; González-Diéguez, M L; Rodríguez-García, M; Junceda-Moreno, J

    2014-04-01

    Clinical case A patient with chronic, painless, bilateral loss of vision, after significant intake of interferon (IFN?) and ribavirina due to liver transplant. Ocular fundus is normal. A suspected retrobulbar optic neuropathy is confirmed by a prolongation of the latency of the patient's visual evoked potential. There being no prior record of risk factors and with the patient's systemic analysis giving normal results, the clinical improvement and the electro-physiological tests conducted after the drug was withdrawn point to interferon as negatively affecting the bilateral optic nerve. Discussion Interferon-? is used in the treatment of viral and neoplastic illnesses. Currently the drug is formulated as Interferon alfa pegilado (IFN?-p) in order to reduce toxicity and increase tolerance. The most common secondary effects are flu symptoms, asthenia and weigh loss. Affected ocular tissue is rare and optic neuropathy is also an infrequent complication: retinopathy at the beginning of treatment is, however, more frequent. The most widely accepted hypothesis as to the cause of toxicity is the presence of circulating immune complexes. It is, therefore, essential for ophthalmologists to be aware of the toxicity of this drug in order to be able to withdraw it in good time, thus preventing potentially irreversible sight loss. PMID:24269470

  5. Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy

    Microsoft Academic Search

    M Inglese; M Rovaris; S Bianchi; L La Mantia; G L Mancardi; A Ghezzi; P Montagna; F Salvi; M Filippi

    2001-01-01

    OBJECTIVESLeber's hereditary optic neuropathy (LHON) is a mitochondrial disease leading to bilateral loss of central vision and severe optic nerve atrophy. A subtype of LHON presents additional clinical and MRI aspects indistinguishable from those of multiple sclerosis (MS) (LHON-MS). In patients with LHON or LHON-MS, an assessment was made of (a) the severity of optic nerve damage, using MRI and

  6. Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies

    PubMed Central

    Yu-Wai-Man, Patrick; Shankar, Suma P.; Biousse, Valérie; Miller, Neil R.; Bean, Lora J.H.; Coffee, Bradford; Hegde, Madhuri; Newman, Nancy J.

    2010-01-01

    Purpose Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. About 60% of cases harbor OPA1 mutations, whereas OPA3 mutations have only been reported in two pedigrees with DOA and premature cataracts. The aim of this study was to determine the yield of OPA1 and OPA3 screening in a cohort of presumed DOA cases referred to a tertiary diagnostic laboratory. Design Retrospective case series. Participants One hundred and eighty-eight probands with bilateral optic atrophy referred for molecular genetic investigations at a tertiary diagnostic facility: 38 patients with an autosomal-dominant pattern of inheritance and 150 sporadic cases. Methods OPA1 and OPA3 genetic testing was initially performed using PCR-based sequencing methods. The presence of large-scale OPA1 and OPA3 genomic rearrangements was further assessed with a targeted comparative genomic hybridization (CGH) microarray platform. The three primary Leber hereditary optic neuropathy (LHON) mutations, m.3460G>A, m.11778G>A, and m.14484T>C, were also screened in all patients. Main Outcome Measures The proportion of patients with OPA1 and OPA3 pathogenic mutations. The clinical profile observed in molecularly confirmed DOA cases. Results We found 21 different OPA1 mutations in 27 of the 188 (14.4%) probands screened. The mutations included six novel pathogenic variants and the first reported OPA1 initiation codon mutation at c.1A>T. An OPA1 missense mutation, c.239A>G (p.Y80C), was identified in an 11-year-old African-American girl with optic atrophy and peripheral sensori-motor neuropathy in her lower limbs. The OPA1 detection rate was significantly higher among individuals with a positive family history of visual failure (50.0%) compared with sporadic cases (5.3%). The primary LHON screen was negative in our patient cohort, and additional molecular investigations did not reveal any large-scale OPA1 rearrangements or OPA3 genetic defects. The mean baseline visual acuity for our OPA1-positive group was 0.48 logarithm of the minimum angle of resolution (LogMAR) (Mean Snellen equivalent = 20/61, range = 20/20–20/400, 95% confidence interval = 20/52–20/71), and visual deterioration occurred in 54.2% of patients during follow-up. Conclusions OPA1 mutations are the most common genetic defects identified in patients with suspected DOA, whereas OPA3 mutations are very rare in isolated optic atrophy cases. PMID:21036400

  7. Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy.

    PubMed

    Frye, Richard E

    2011-06-01

    Epilepsy syndromes with onset in the first year of life, especially when they include myoclonic features, have special significance since they are associated with long-term developmental and neurological abnormalities. Dravet's severe myoclonic epilepsy in infancy is especially interesting as it is associated with fever-provoked seizures and mutations in the alpha subunit of the sodium channel (SCN1A) in about one-third of the cases. Here, we report 2 children who had clinical features of severe myoclonic epilepsy of infancy without mutations in the SCN1A gene who were found to have mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy. These 2 children demonstrated markers of mitochondrial dysfunction, drug-resistant epilepsy, and dysfunction of nonneurological systems. These cases demonstrate that mitochondrial DNA mutations, especially those associated with Leber's hereditary optic neuropathy, should be considered in cases of myclonic epilepsy starting in infancy, especially when mutations in the SCN1A gene are not found. PMID:21527392

  8. Controversies in neuro-ophthalmology: Steroid therapy for traumatic optic neuropathy

    PubMed Central

    Saxena, Rohit; Singh, Digvijay; Menon, Vimla

    2014-01-01

    Background: There is an increase in the incidence of traumatic optic neuropathy (TON) due to increasing urbanization and rapid spurt in the number of motor vehicles on the road. Despite early presentation and ease of diagnosis the visual outcomes in TON are still limited. There is also significant confusion about the timing, dose and efficacy of steroid treatment in its management. Purpose: To provide a clinical update of the pros and cons of steroid therapy for TON. Design: The paper is a retrospective review of the currently available literature in the English language indexed in PubMed. Methods: A PubMed search was conducted by the authors using the following terms: Traumatic optic neuropathy, megadose, steroids, methylprednisolone. Relevant original articles, review articles, and case reports related to the topic of discussion were evaluated and discussed in the paper. Results: There is no prospective randomized control trial evaluating the effect of steroids in TON. There are varying reports on the effect of steroid therapy from significant improvement to no difference compared to observation. Conclusion: The decision to give steroids to patients with TON has to be on an individual case to case basis and must involve informed consent from the patient. There are documented advantages and disadvantages of steroid therapy and a prospective, randomized, controlled trial is necessary comparing steroids, surgery and observation before definitive management can be evolved. PMID:25449942

  9. Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements

    PubMed Central

    Carbonelli, Michele; La Morgia, Chiara; Savini, Giacomo; Cascavilla, Maria Lucia; Borrelli, Enrico; Chicani, Filipe; do V. F. Ramos, Carolina; Salomao, Solange R.; Parisi, Vincenzo; Sebag, Jerry; Bandello, Francesco; Sadun, Alfredo A.; Carelli, Valerio; Barboni, Piero

    2015-01-01

    Purpose To investigate the thickness of the retinal layers and to assess the prevalence of macular microcysts (MM) in the inner nuclear layer (INL) of patients with mitochondrial optic neuropathies (MON). Methods All patients with molecularly confirmed MON, i.e. Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), referred between 2010 and 2012 were enrolled. Eight patients with MM were compared with two control groups: MON patients without MM matched by age, peripapillary retinal nerve fiber layer (RNFL) thickness, and visual acuity, as well as age-matched controls. Retinal segmentation was performed using specific Optical coherence tomography (OCT) software (Carl Zeiss Meditec). Macular segmentation thickness values of the three groups were compared by one-way analysis of variance with Bonferroni post hoc corrections. Results MM were identified in 5/90 (5.6%) patients with LHON and 3/58 (5.2%) with DOA. The INL was thicker in patients with MON compared to controls regardless of the presence of MM [133.1±7?m vs 122.3±9?m in MM patients (p<0.01) and 128.5±8?m vs. 122.3±9?m in no-MM patients (p<0.05)], however the outer nuclear layer (ONL) was thicker in patients with MM (101.4±1m?) compared to patients without MM [77.5±8m? (p<0.001)] and controls [78.4±7m? (p<0.001)]. ONL thickness did not significantly differ between patients without MM and controls. Conclusion The prevalence of MM in MON is low (5-6%), but associated with ONL thickening. We speculate that in MON patients with MM, vitreo-retinal traction contributes to the thickening of ONL as well as to the production of cystic spaces. PMID:26047507

  10. Nonarteritic anterior ischemic optic neuropathy as the presenting manifestation of primary antiphospholipid syndrome

    PubMed Central

    Tugcu, Betul; Acar, Nur; Coskun, Cigdem Tanr?verdi; Celik, Selda; Yigit, Fadime Ulviye

    2014-01-01

    Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by vascular thrombosis or pregnancy morbidity. Ocular involvement in APS includes a broad spectrum of manifestations involving anterior and posterior segment or the presence of neuroophthalmologic features. Nonarteritic anterior ischemic optic neuropathy (NAION) is a very rare finding, and in this report a case having NAION as the prevailing sign of APS is presented. A middle-aged women who presented with visual disturbances in her left eye (LE) and turned out to have the diagnosis of primary APS with the help of rheumatological investigations is discussed. She was treated with oral steroids for NAION in her LE. With systemic and rheumatological work-up, primary APS was diagnosed, and hydroxychloroquine, coumadin, and aspirin were started, after which she remained stable under control. Due to the important diagnostic and therapeutic implications of APS, it should be considered in the differential diagnosis of NAION, particularly when the etiology is uncertain. PMID:23571268

  11. Bilateral non-arteritic ischemic optic neuropathy in a transsexual woman using excessive estrogen dosage.

    PubMed

    Wierckx, Katrien; De Zaeytijd, Julie; Elaut, Els; Heylens, Gunter; T'Sjoen, Guy

    2014-02-01

    We present a case report on a 53-year-old transsexual woman who developed acute painless vision loss in both eyes during cross-sex hormone treatment. After 10 months of cross-sex hormone treatment, she experienced total vision loss of the right eye and, 6 months later, vision loss to 20/63 in the left eye. After a full ophthalmic exam, bilateral sequential non-arteritic ischemic optic neuropathy (NA-ION) was diagnosed. Extensive etiological work-up revealed no cardiac abnormalities or inherited blood-clotting disorders. A manifest self-administered overdose of transdermal estrogen treatment with serum estradiol levels of 5,765 pg/ml was possibly related to the sequential bilateral NA-ION resulting in nearly total vision loss in this transsexual woman. PMID:24057212

  12. Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy

    PubMed Central

    Thouin, Anais; Griffiths, Philip G.; Hudson, Gavin; Chinnery, Patrick F.; Yu-Wai-Man, Patrick

    2013-01-01

    Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all of which affect critical complex I subunits of the mitochondrial respiratory chain. LHON is characterised by marked incomplete penetrance, clearly implying that the mtDNA mutation is insufficient on its own to trigger retinal ganglion cell dysfunction and visual loss. In this case series of three affected patients harbouring the m.11778G>A mutation, we provide evidence suggesting that raised intraocular pressure could be a risk factor triggering visual loss in at-risk LHON carriers. PMID:23667621

  13. Metabolic neuropathies

    MedlinePLUS

    Neuropathy - metabolic ... can be caused by many different things. Metabolic neuropathy may be caused by: A problem with the ... one of the most common causes of metabolic neuropathies. People who are at the highest risk of ...

  14. Peripheral neuropathy

    MedlinePLUS

    Peripheral neuritis; Neuropathy - peripheral; Neuritis - peripheral; Nerve disease; Polyneuropathy ... Neuropathy is very common. There are many types and causes. Often, no cause can be found. Some ...

  15. Mathematically Modeling the Involvement of Axons in Leber's Hereditary Optic Neuropathy

    PubMed Central

    Pan, Billy X.; Ross-Cisneros, Fred N.; Carelli, Valerio; Rue, Kelly S.; Salomao, Solange R.; Moraes-Filho, Milton N.; Moraes, Milton N.; Berezovsky, Adriana; Belfort, Rubens; Sadun, Alfredo A.

    2012-01-01

    Purpose. Leber's hereditary optic neuropathy (LHON), a mitochondrial disease, has clinical manifestations that reflect the initial preferential involvement of the papillomacular bundle (PMB). The present study seeks to predict the order of axonal loss in LHON optic nerves using the Nerve Fiber Layer Stress Index (NFL-SI), which is a novel mathematical model. Methods. Optic nerves were obtained postmortem from four molecularly characterized LHON patients with varying degrees of neurodegenerative changes and three age-matched controls. Tissues were cut in cross-section and stained with p-phenylenediamine to visualize myelin. Light microscopic images were captured in 32 regions of each optic nerve. Control and LHON tissues were evaluated by measuring axonal dimensions to generate an axonal diameter distribution map. LHON tissues were further evaluated by determining regions of total axonal depletion. Results. A size gradient was evident in the control optic nerves, with average axonal diameter increasing progressively from the temporal to nasal borders. LHON optic nerves showed an orderly loss of axons, starting inferotemporally, progressing centrally, and sparing the superonasal region until the end. Values generated from the NFL-SI equation fit a linear regression curve (R2 = 0.97; P < 0.001). Conclusions. The quantitative histopathologic data from this study revealed that the PMB is most susceptible in LHON, supporting clinical findings seen early in the course of disease onset. The present study also showed that the subsequent progression of axonal loss within the optic nerve can be predicted precisely with the NFL-SI equation. The results presented provided further insight into the pathophysiology of LHON. PMID:23060142

  16. Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

    PubMed Central

    Rizzo, Giovanni; Tozer, Kevin R.; Tonon, Caterina; Manners, David; Testa, Claudia; Malucelli, Emil; Valentino, Maria Lucia; La Morgia, Chiara; Barboni, Piero; Randhawa, Ruvdeep S.; Ross-Cisneros, Fred N.; Sadun, Alfredo A.; Carelli, Valerio; Lodi, Raffaele

    2012-01-01

    Leber’s hereditary optic neuropathy (LHON) is characterized by retinal ganglion cell (RGC) degeneration with the preferential involvement of those forming the papillomacular bundle. The optic nerve is considered the main pathological target for LHON. Our aim was to investigate the possible involvement of the post-geniculate visual pathway in LHON patients. We used diffusion-weighted imaging for in vivo evaluation. Mean diffusivity maps from 22 LHON visually impaired, 11 unaffected LHON mutation carriers and 22 healthy subjects were generated and compared at level of optic radiation (OR). Prefrontal and cerebellar white matter were also analyzed as internal controls. Furthermore, we studied the optic nerve and the lateral geniculate nucleus (LGN) in post-mortem specimens obtained from a severe case of LHON compared to an age-matched control. Mean diffusivity values of affected patients were higher than unaffected mutation carriers (P<0.05) and healthy subjects (P<0.01) in OR and not in the other brain regions. Increased OR diffusivity was associated with both disease duration (B?=?0.002; P<0.05) and lack of recovery of visual acuity (B?=?0.060; P<0.01). Post-mortem investigation detected atrophy (41.9% decrease of neuron soma size in the magnocellular layers and 44.7% decrease in the parvocellular layers) and, to a lesser extent, degeneration (28.5% decrease of neuron density in the magnocellular layers and 28.7% decrease in the parvocellular layers) in the LHON LGN associated with extremely severe axonal loss (99%) in the optic nerve. The post-geniculate involvement in LHON patients is a downstream post-synaptic secondary phenomenon, reflecting de-afferentation rather than a primary neurodegeneration due to mitochondrial dysfunction of LGN neurons. PMID:23209682

  17. Clinical Efficacy Observation of Acupuncture Treatment for Nonarteritic Anterior Ischemic Optic Neuropathy

    PubMed Central

    Qin, Yali; Yuan, Wei; Deng, Hui; Xiang, Zhanmei; Yang, Chao; Kou, Xinyun; Yang, Shufei; Wang, Zhijun; Jin, Ming

    2015-01-01

    Objective. To determine whether acupuncture treatment impacts the clinical efficacy of degenerative damage of the optic nerve caused by nonarteritic anterior ischemic optic neuropathy (NAION). Methods. 69 patients (93 eyes) with NAION who had been treated by acupuncture which is performed on different acupoints related to eyes by vertical insertion or Fingernail-pressure needle insertion. The best corrected visual acuity, mean defect (MD) and mean light sensitivity (MS) of the visual field, and latency and amplitude of pattern visual evoked potential (P-VEP) were compared before and after treatment. Results. After 2, 4, and 8 weeks of treatment, the total effective rates of visual acuity improvement were 74.19%, 78.89%, and 81.71%, respectively, and the decreased MD and increased MS were both statistically significant (P < 0.01). When compared with the situation before treatment, the average latency of the P100 wave was significantly reduced (P < 0.05), and the average amplitude was improved with no statistically significant difference (P > 0.05). Conclusions. Acupuncture treatment could obviously improve the visual function of patients with NAION and be used as complementary and alternative therapy in clinic. PMID:26089945

  18. Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber’s hereditary optic neuropathy

    Microsoft Academic Search

    A Carta; V Carelli; T D’Adda; F N Ross-Cisneros; A A Sadun

    2005-01-01

    Aims: To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber’s hereditary optic neuropathy (LHON).Methods: Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460\\/ND1 LHON were processed for electron

  19. A Case of Visceral Autonomic Neuropathy Complicated by Guillain-Barre Syndrome Accompanied with Cyclic Vomiting Syndrome-like Disorder in a Child

    PubMed Central

    Hong, Suk Jin

    2015-01-01

    We present a case of an 8-year-old boy with visceral autonomic neuropathy complicated by Guillain-Barre syndrome. In this pediatric patient, gastroparesis was the major symptom among the autonomic symptoms. Due to the gastroparesis, there was no progress with the oral diet, and nutrition was therefore supplied through a nasojejunal tube and gastrojejunal tube via Percutaneous endoscopic gastrostomy (PEG). After tube feeding for 9 months, the patient's gastrointestinal symptoms improved and his oral ingestion increased. The pediatric patient was maintained well without gastrointestinal symptoms for 3 months after removal of the PEG, had repeated vomiting episodes which lead to the suspicion of cyclic vomiting syndrome. Then he started treatment with low-dose amitriptyline, which resulted in improvement. Currently, the patient has been maintained well for 6 months without recurrence, and his present growth status is normal. PMID:26157699

  20. A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2

    PubMed Central

    2014-01-01

    Background Wolfram Syndrome type 2 (WFS2) is considered a phenotypic and genotypic variant of WFS, whose minimal criteria for diagnosis are diabetes mellitus and optic atrophy. The disease gene for WFS2 is CISD2. The clinical phenotype of WFS2 differs from WFS1 for the absence of diabetes insipidus and psychiatric disorders, and for the presence of bleeding upper intestinal ulcers and defective platelet aggregation. After the first report of consanguineous Jordanian patients, no further cases of WFS2 have been reported worldwide. We describe the first Caucasian patient affected by WFS2. Case presentation The proband was a 17 year-old girl. She presented diabetes mellitus, optic neuropathy, intestinal ulcers, sensorineural hearing loss, and defective platelet aggregation to ADP. Genetic testing showed a novel homozygous intragenic deletion of CISD2 in the proband. Her brother and parents carried the heterozygous mutation and were apparently healthy, although they showed subclinical defective platelet aggregation. Long runs of homozygosity analysis from SNP-array data did not show any degree of parental relationship, but the microsatellite analysis confirmed the hypothesis of a common ancestor. Conclusion Our patient does not show optic atrophy, one of the main diagnostic criteria for WFS, but optic neuropathy. Since the “asymptomatic” optic atrophy described in Jordanian patients is not completely supported, we could suppose that the ocular pathology in Jordanian patients was probably optic neuropathy and not optic atrophy. Therefore, as optic atrophy is required as main diagnostic criteria of WFS, it might be that the so-called WFS2 could not be a subtype of WFS. In addition, we found an impaired aggregation to ADP and not to collagen as previously reported, thus it is possible that different experimental conditions or inter-patient variability can explain different results in platelet aggregation. Further clinical reports are necessary to better define the clinical spectrum of this syndrome and to re-evaluate its classification. PMID:25056293

  1. Retinal Ganglion Cell Dysfunction in Asymptomatic G11778A: Leber Hereditary Optic Neuropathy

    PubMed Central

    Guy, John; Feuer, William J.; Porciatti, Vittorio; Schiffman, Joyce; Abukhalil, Fawzi; Vandenbroucke, Ruth; Rosa, Potyra R.; Lam, Byron L.

    2014-01-01

    Purpose. To report the serial evaluation of asymptomatic eyes of subjects with mutated G11778A mitochondrial DNA. Methods. Forty-five asymptomatic G11778A Leber hereditary optic neuropathy (LHON) carriers and two patients with the mutation who developed unilateral visual loss underwent testing that included visual acuity, automated visual field, pattern electroretinogram (PERG), and spectral-domain optical coherence tomography every 6 months between September 2008 and March 2012. Results. Visual acuity, visual fields, and retinal nerve fiber layer thickness remained stable within the normal range. Mean PERG amplitudes of carriers dropped progressively by ?40% from baseline to 36 months. In addition, comparisons with the fellow eyes of patients with unilateral optic neuritis revealed a 3.4 ETDRS (Early Treatment Diabetic Retinopathy Study) letter loss in the LHON carriers. A single carrier developed visual loss, with PERG amplitudes dropping by half. In one of two LHON cases who presented with unilateral visual loss, visual acuity in the asymptomatic eye was ?20/40 at baseline. The PERG amplitude of this eye was reduced to ?30% of normal. Six months later, his visual acuity had dropped to ?20/500. A second patient who was ?20/20 and had a visual field defect in the asymptomatic eye at baseline remained at this level for the 18 months of follow-up. His PERG amplitudes were similar to those of asymptomatic carriers, with 0.78 ?V at baseline that did not decline with follow-up. Conclusions. Declines of the PERG amplitude suggest subclinical retinal ganglion cell dysfunction in asymptomatic G11778A subjects, which is progressive. PMID:24398093

  2. A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy.

    PubMed

    Frousiakis, Starleen E; Pouw, Andrew E; Karanjia, Rustum; Sadun, Alfredo A

    2014-09-01

    We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history was significant for a known G11778A mutation in a maternal relative, consistent with LHON. The patient was also positive for the G11778A mutation; however, the genotype demonstrated low penetrance in the pedigree, with only 1 out of 10 adult male offspring showing signs or symptoms of the disease. Mitochondrial mutations implicated in LHON have been shown to impair complex I of the electron transport chain and thereby reducing the effective generation of adenosine triphosphate and increasing the production of toxic reactive oxygen species. Although the partial or complete triplicate of chromosome 21 constitutes the etiology of DS, some of the pleiotropic phenotypes of the syndrome have been attributed to oxidative stress and mitochondrial dysfunction. Given the low penetrance of the mutation and the patient's sex, this case illustrates the possibility that the mitochondrial mutation demonstrated increased penetrance due to pre-existing mitochondrial dysfunction related to DS. PMID:25566062

  3. Optic neuropathy, myelopathy, anemia, and neutropenia caused by acquired copper deficiency after gastric bypass surgery.

    PubMed

    Yarandi, Shadi S; Griffith, Daniel P; Sharma, Rahul; Mohan, Arun; Zhao, Vivian M; Ziegler, Thomas R

    2014-01-01

    Malabsorptive bariatric surgery is rapidly becoming a major cause of copper deficiency given the increasing prevalence of these procedures for morbid obesity. Acquired copper deficiency can present with clinically significant hematologic and neurological manifestations. Although hematologic manifestations of copper deficiency are rapidly reversible, significant neurological improvement after copper supplementation therapy is unusual and many patients remain debilitated and may only experience, at best, stabilization of the neurological manifestations. Here we present a case of an undiagnosed copper deficiency several years after bariatric gastric bypass surgery, in a patient who concomitantly used zinc-containing denture cream for several years, associated with anemia, neutropenia, myelopathy, respiratory failure, and bilateral optic neuropathy, which caused major vision loss. This patient was also a heterozygote carrier of the 5,10-methylenetetrahydrofolate reductase A1298C gene polymorphism, which may affect copper metabolism. Intravenous copper repletion resulted in rapid correction of hematologic indices. However, neurological manifestations, including vision loss responded only modestly to copper supplementation, despite achieving normal blood copper concentrations. Clinicians should consider copper deficiency in patients at risk, as in this case, as a delayed diagnosis can lead to irreversible disability due to neurological manifestations. PMID:24583748

  4. Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation

    SciTech Connect

    Liang, Min [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Guan, Minqiang [Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] [Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhao, Fuxing; Zhou, Xiangtian [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Yuan, Meixia [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Tong, Yi [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005 (China); Yang, Li [Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 (United States)] [Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229 (United States); Wei, Qi-Ping; Sun, Yan-Hong [Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078 (China)] [Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078 (China); Lu, Fan [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Qu, Jia, E-mail: jqu@wzmc.net [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); and others

    2009-06-05

    We report here the clinical, genetic and molecular characterization of four Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age-of-onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T3394C (Y30H) mutation, which localized at a highly conserved tyrosine at position 30 of ND1, and distinct sets of mtDNA polymorphisms belonging to haplogroups D4b and M9a. The occurrence of T3394C mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. However, there was the absence of functionally significant mtDNA mutations in these four Chinese pedigrees carrying the T3394C mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated T3394C mutation.

  5. Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation

    SciTech Connect

    Zhao, Fuxin [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Guan, Minqiang [Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] [Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhou, Xiangtian [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Yuan, Meixia; Liang, Ming [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Liu, Qi [Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)] [Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Liu, Yan; Zhang, Yongmei [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Yang, Li [Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States)] [Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States); Tong, Yi [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005 (China); Wei, Qi-Ping; Sun, Yan-Hong [Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078 (China)] [Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078 (China); Qu, Jia, E-mail: jqu@wzmc.net [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China); and others

    2009-11-20

    We report here the clinical, genetic, and molecular characterization of three Chinese families with Leber's hereditary optic neuropathy (LHON). There were variable severity and age of onset in visual impairment among these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of complete mitochondrial genomes in these pedigrees showed the homoplasmic T14502C (I58V) mutation, which localized at a highly conserved isoleucine at position 58 of ND6, and distinct sets of mtDNA polymorphisms belonging to haplogroups M10a, F1a1, and H2. The occurrence of T14502C mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. Here, mtDNA variants I187T in the ND1, A122V in CO1, S99A in the A6, and V254I in CO3 exhibited an evolutionary conservation, indicating a potential modifying role in the development of visual impairment associated with T14502C mutation in those families. Furthermore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic manifestation of the LHON-associated T14502C mutation in these Chinese families.

  6. Simultaneous Bilateral Nonarteritic Anterior Ischemic Optic Neuropathy in a Patient with a History of Diffuse Large B-Cell Lymphoma

    PubMed Central

    Lazar, David B.; Lemor, Daniel; Brown, Archie; Nussdorf, Jonathan D.

    2015-01-01

    Background Nonarteritic anterior ischemic optic neuropathy (NAAION) has a poorly understood etiology, and the onset of simultaneous bilateral NAAION in a patient <50 years without identifiable systemic risk factors is rare. Case Report We present the case of a patient with acute painless monocular vision loss and bilateral optic disc edema who subsequently developed painless vision loss in the fellow eye. The patient's history was significant for diffuse large B-cell lymphoma, and our pressing diagnostic concern was to determine if his vision loss and bilateral optic disc changes represented lymphomatous infiltrates. A complete ocular exam demonstrated findings consistent with simultaneous bilateral NAAION. After an extensive systemic workup for malignancy with central nervous system involvement, vasculitis, and other entities associated with NAAION, we determined that the patient's primary risk factor for developing bilateral ischemic optic neuropathies was his crowded optic discs. Conclusion This case supports the hypothesis that a crowded optic disc is a sufficient primary risk factor for developing NAAION. PMID:25829891

  7. Steroid-induced central serous chorioretinopathy in a patient with non-arteritic anterior ischemic optic neuropathy

    PubMed Central

    Alkin, Zeynep; Yilmaz, Ihsan; Ozkaya, Abdullah; Yazici, Ahmet Taylan

    2015-01-01

    Non-arteritic anterior ischemic optic neuropathy is a result of an infarction of the small vessel at the anterior portion of the optic disc and causes acute, unilateral, painless visual loss. There is no generally accepted treatment method for this condition but some medical and surgical treatments are recommended. Earlier studies show that visual acuity recovery was better with corticosteroid medication compared to non-treated patients. However corticosteroids may cause side effects such as cataract, increased intraocular pressure and rarely central serous chorioretinopathy. This case report presents a patient with central serous chorioretinopathy secondary to corticosteroid medication.

  8. Auditory Neuropathy

    MedlinePLUS

    ... opinions about the potential benefits of hearing aids, cochlear implants, and other technologies for people with auditory neuropathy. ... for some children and adults with auditory neuropathy. Cochlear implants (electronic devices that compensate for damaged or nonworking ...

  9. Long-term Evaluation of Radiation-Induced Optic Neuropathy After Single-Fraction Stereotactic Radiosurgery

    SciTech Connect

    Leavitt, Jacqueline A., E-mail: leavitt.jacqueline@mayo.edu [Department of Ophthalmology, Mayo Clinic and Foundation, Rochester, Minnesota (United States); Stafford, Scott L. [Department of Radiation Oncology, Mayo Clinic and Foundation, Rochester, Minnesota (United States); Link, Michael J. [Department of Neurosurgery, Mayo Clinic and Foundation, Rochester, Minnesota (United States); Pollock, Bruce E. [Department of Radiation Oncology, Mayo Clinic and Foundation, Rochester, Minnesota (United States); Department of Neurosurgery, Mayo Clinic and Foundation, Rochester, Minnesota (United States)

    2013-11-01

    Purpose: To determine the long-term risk of radiation-induced optic neuropathy (RION) in patients having single-fraction stereotactic radiosurgery (SRS) for benign skull base tumors. Methods and Materials: Retrospective review of 222 patients having Gamma Knife radiosurgery for benign tumors adjacent to the anterior visual pathway (AVP) between 1991 and 1999. Excluded were patients with prior or concurrent external beam radiation therapy or SRS. One hundred twenty-nine patients (58%) had undergone previous surgery. Tumor types included confirmed World Health Organization grade 1 or presumed cavernous sinus meningioma (n=143), pituitary adenoma (n=72), and craniopharyngioma (n=7). The maximum dose to the AVP was ?8.0 Gy (n=126), 8.1-10.0 Gy (n=39), 10.1-12.0 Gy (n=47), and >12 Gy (n=10). Results: The mean clinical and imaging follow-up periods were 83 and 123 months, respectively. One patient (0.5%) who received a maximum radiation dose of 12.8 Gy to the AVP developed unilateral blindness 18 months after SRS. The chance of RION according to the maximum radiation dose received by the AVP was 0 (95% confidence interval [CI] 0-3.6%), 0 (95% CI 0-10.7%), 0 (95% CI 0-9.0%), and 10% (95% CI 0-43.0%) for patients receiving ?8 Gy, 8.1-10.0 Gy, 10.1-12.0 Gy, and >12 Gy, respectively. The overall risk of RION in patients receiving >8 Gy to the AVP was 1.0% (95% CI 0-6.2%). Conclusions: The risk of RION after single-fraction SRS in patients with benign skull base tumors who have no prior radiation exposure is very low if the maximum dose to the AVP is ?12 Gy. Physicians performing single-fraction SRS should remain cautious when treating lesions adjacent to the AVP, especially when the maximum dose exceeds 10 Gy.

  10. Extra-Visual Functional and Structural Connection Abnormalities in Leber's Hereditary Optic Neuropathy

    PubMed Central

    Rocca, Maria A.; Valsasina, Paola; Pagani, Elisabetta; Bianchi-Marzoli, Stefania; Milesi, Jacopo; Falini, Andrea; Comi, Giancarlo; Filippi, Massimo

    2011-01-01

    We assessed abnormalities within the principal brain resting state networks (RSNs) in patients with Leber's hereditary optic neuropathy (LHON) to define whether functional abnormalities in this disease are limited to the visual system or, conversely, tend to be more diffuse. We also defined the structural substrates of fMRI changes using a connectivity-based analysis of diffusion tensor (DT) MRI data. Neuro-ophthalmologic assessment, DT MRI and RS fMRI data were acquired from 13 LHON patients and 13 healthy controls. RS fMRI data were analyzed using independent component analysis and SPM5. A DT MRI connectivity-based parcellation analysis was performed using the primary visual and auditory cortices, bilaterally, as seed regions. Compared to controls, LHON patients had a significant increase of RS fluctuations in the primary visual and auditory cortices, bilaterally. They also showed decreased RS fluctuations in the right lateral occipital cortex and right temporal occipital fusiform cortex. Abnormalities of RS fluctuations were correlated significantly with retinal damage and disease duration. The DT MRI connectivity-based parcellation identified a higher number of clusters in the right auditory cortex in LHON vs. controls. Differences of cluster-centroid profiles were found between the two groups for all the four seeds analyzed. For three of these areas, a correspondence was found between abnormalities of functional and structural connectivities. These results suggest that functional and structural abnormalities extend beyond the visual network in LHON patients. Such abnormalities also involve the auditory network, thus corroborating the notion of a cross-modal plasticity between these sensory modalities in patients with severe visual deficits. PMID:21347331

  11. Optic Neuropathy in McCune-Albright Syndrome: Effects of Early Diagnosis and Treatment of Growth Hormone Excess

    PubMed Central

    Glover, McKinley; Kelly, Marilyn H.; Brillante, Beth A.; Butman, John A.; Fitzgibbon, Edmond J.; Brewer, Carmen C.; Zalewski, Christopher K.; Cutler Peck, Carolee M.; Kim, H. Jeffrey

    2013-01-01

    Context: GH excess is a serious complication of McCune-Albright syndrome (MAS) and has been associated with craniofacial morbidity. Objective: The aim of the study was to determine whether early diagnosis and treatment of MAS-associated GH excess prevents optic neuropathy and hearing impairment, the major morbidities associated with GH excess. Design and Setting: A retrospective cross-sectional analysis was conducted at a clinical research center. Patients: Twenty-two subjects with MAS-associated GH excess and 21 control MAS subjects without GH excess were included in the study. Intervention: Biochemical testing included random GH, nadir GH after glucose load, nadir GH on frequent sampling, and IGF-I Z-score. Subjects underwent imaging, ophthalmological, audiological, and otolaryngological assessment. Treatment included octreotide, pegvisomant, transphenoidal surgery, and/or radiotherapy as indicated. Main Outcome Measure: Association of optic neuropathy and hearing impairment to age at GH excess diagnosis/treatment was measured. Results: Of 129 MAS subjects, 26 (20%) were diagnosed with GH excess based on elevation of two measures of GH function. Of these, 22 subjects were candidates for pharmacological intervention. Optic neuropathy was significantly correlated with intervention status, with no cases in the early intervention group (diagnosed/treated before age 18) or the control group, and four of seven (57%) in the late intervention group (diagnosed/treated after age 18) (Fisher's exact test; odds ratio, 0.027; P = 0.0058). Early diagnosis/intervention was not associated with reduction in hearing deficits (odds ratio, 1.25; P = 1.00). Mean head circumference sd score was significantly higher in the late (6.08; range, 2.70 to 22.56) than the early intervention (2.67; range, ?0.65 to 6.72) or control groups (2.13; range, ?2.06 to 7.79) (P = 0.003). Conclusions: Early diagnosis/treatment of GH excess in MAS is important to prevent optic neuropathy and craniofacial expansion. The relationship between hearing deficits and GH excess remains less clear and requires further study. PMID:23093488

  12. Beta-zone parapapillary atrophy and multifocal visual evoked potentials in eyes with glaucomatous optic neuropathy

    PubMed Central

    Ketner, Scott; Teng, Christopher C.; Ehrlich, Joshua R.; Raza, Ali S.; Liebmann, Jeffrey M.; Ritch, Robert; Hood, Donald C.

    2015-01-01

    We investigated changes in multifocal visual evoked potential (mfVEP) responses due to beta-zone parapapillary atrophy (?PPA). Patients with glaucomatous optic neuropathy (GON) with or without standard achromatic perimetry (SAP) abnormalities were referred for mfVEP testing during a 2-year period. Eyes with good quality optic disc stereophotographs and reliable SAP results were included. The mfVEP monocular mean latency delays (ms) and amplitudes (SNR) were analyzed. Age, SAP mean deviation (MD), pattern standard deviation (PSD), and spherical equivalent (SE) were analyzed in the multivariate model. Generalized estimated equations were used for comparisons between groups after adjusting for inter-eye associations. Of 394 eyes of 200 patients, 223 (57%) had ?PPA. The ?PPA eyes were older (59.6 ± 13.7 vs. 56.5 ± 13.7 year, P = 0.02), more myopic (?4.0 ± 3.5 vs. ?1.3 ± 3.5 D, P < 0.01), and had poorer SAP scores (MD: ?4.9 ± 5.2 vs. ?2.6 ± 5.2 dB, P < 0.01; PSD: 4.3 ± 2.9 vs. 2.5 ± 3.0 dB, P < 0.01). By univariate analysis, mean latencies were longer in ?PPA eyes (6.1 ± 5.3 vs. 4.0 ± 5.5 ms, P < 0.01). After adjusting for differences in SE, age, and SAP MD, there was no significant difference between the two groups (P = 0.09). ?PPA eyes had lower amplitude log SNR (0.49 ± 0.16 vs. 0.56 ± 0.15, P < 0.01), which lost significance (P = 0.51) after adjusting for MD and PSD. Although eyes with ?PPA had significantly lower amplitudes and prolonged latencies than eyes without ?PPA, these differences were attributable to differences in SAP severity, age, and refractive error. Thus, ?PPA does not appear to be an independent factor affecting mfVEP responses in eyes with GON. PMID:21735265

  13. Beta-zone parapapillary atrophy and multifocal visual evoked potentials in eyes with glaucomatous optic neuropathy.

    PubMed

    De Moraes, Carlos Gustavo; Ketner, Scott; Teng, Christopher C; Ehrlich, Joshua R; Raza, Ali S; Liebmann, Jeffrey M; Ritch, Robert; Hood, Donald C

    2011-08-01

    We investigated changes in multifocal visual evoked potential (mfVEP) responses due to beta-zone parapapillary atrophy (ßPPA). Patients with glaucomatous optic neuropathy (GON) with or without standard achromatic perimetry (SAP) abnormalities were referred for mfVEP testing during a 2-year period. Eyes with good quality optic disc stereophotographs and reliable SAP results were included. The mfVEP monocular mean latency delays (ms) and amplitudes (SNR) were analyzed. Age, SAP mean deviation (MD), pattern standard deviation (PSD), and spherical equivalent (SE) were analyzed in the multivariate model. Generalized estimated equations were used for comparisons between groups after adjusting for inter-eye associations. Of 394 eyes of 200 patients, 223 (57%) had ßPPA. The ßPPA eyes were older (59.6 ± 13.7 vs. 56.5 ± 13.7 year, P = 0.02), more myopic (-4.0 ± 3.5 vs. -1.3 ± 3.5 D, P < 0.01), and had poorer SAP scores (MD: -4.9 ± 5.2 vs. -2.6 ± 5.2 dB, P < 0.01; PSD: 4.3 ± 2.9 vs. 2.5 ± 3.0 dB, P < 0.01). By univariate analysis, mean latencies were longer in ßPPA eyes (6.1 ± 5.3 vs. 4.0 ± 5.5 ms, P < 0.01). After adjusting for differences in SE, age, and SAP MD, there was no significant difference between the two groups (P = 0.09). ßPPA eyes had lower amplitude log SNR (0.49 ± 0.16 vs. 0.56 ± 0.15, P < 0.01), which lost significance (P = 0.51) after adjusting for MD and PSD. Although eyes with ßPPA had significantly lower amplitudes and prolonged latencies than eyes without ßPPA, these differences were attributable to differences in SAP severity, age, and refractive error. Thus, ßPPA does not appear to be an independent factor affecting mfVEP responses in eyes with GON. PMID:21735265

  14. Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

    PubMed Central

    Olivieri, Anna; Pala, Maria; Hooshiar Kashani, Baharak; Reynier, Pascal; La Morgia, Chiara; Valentino, Maria Lucia; Liguori, Rocco; Pizza, Fabio; Barboni, Piero; Sadun, Federico; De Negri, Anna Maria; Zeviani, Massimo; Dollfus, Helene; Moulignier, Antoine; Ducos, Ghislaine; Orssaud, Christophe; Bonneau, Dominique; Procaccio, Vincent; Leo-Kottler, Beate; Fauser, Sascha; Wissinger, Bernd; Amati-Bonneau, Patrizia; Torroni, Antonio; Carelli, Valerio

    2012-01-01

    Background Leber’s hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4, MT-ND1 and MT-ND6 genes). However, the spectrum of mtDNA mutations causing the remaining 10% of cases is only partially and often poorly defined. Methodology/Principal Findings In order to improve such a list of pathological variants, we completely sequenced the mitochondrial genomes of suspected LHON patients from Italy, France and Germany, lacking the three primary common mutations. Phylogenetic and conservation analyses were performed. Sixteen mitochondrial genomes were found to harbor at least one of the following nine rare LHON pathogenic mutations in genes MT-ND1 (m.3700G>A/p.A132T, m.3733G>A-C/p.E143K-Q, m.4171C>A/p.L289M), MT-ND4L (m.10663T>C/p.V65A) and MT-ND6 (m.14459G>A/p.A72V, m.14495A>G/p.M64I, m.14482C>A/p.L60S, and m.14568C>T/p.G36S). Phylogenetic analyses revealed that these substitutions were due to independent events on different haplogroups, whereas interspecies comparisons showed that they affected conserved amino acid residues or domains in the ND subunit genes of complex I. Conclusions/Significance Our findings indicate that these nine substitutions are all primary LHON mutations. Therefore, despite their relative low frequency, they should be routinely tested for in all LHON patients lacking the three common mutations. Moreover, our sequence analysis confirms the major role of haplogroups J1c and J2b (over 35% in our probands versus 6% in the general population of Western Europe) and other putative synergistic mtDNA variants in LHON expression. PMID:22879922

  15. AMYLOID NEUROPATHIES

    PubMed Central

    Shin, Susan C.; Robinson-Papp, Jessica

    2012-01-01

    Peripheral neuropathy is a common complication of many of the systemic amyloidoses. Although the cause of neuropathy is not entirely clear, it is likely related to amyloid deposition within the nerve. This may lead to focal, multifocal, or diffuse neuropathies involving sensory, motor and/or autonomic fibers. The presenting symptoms depend on the distribution of nerves affected. One of the most common phenotypes is sensorimotor polyneuropathy, which is characterized by symptoms of neuropathic pain, numbness, and in advanced cases weakness. Symptoms begin in the feet and ultimately progress to the proximal legs and hands. The most common focal neuropathy is a median neuropathy at the wrist, or clinically known as carpal tunnel syndrome. Carpal tunnel symptoms may include pain and sensory disturbances in the lateral palm and fingers; hand weakness may ensue if the focal neuropathy is severe. Autonomic neuropathy may affect a variety of organ systems such as the cardiovascular, gastrointestinal, and genitourinary systems. Symptoms may be non-specific making the diagnosis of autonomic neuropathy more difficult to identify. However, it is important to recognize and distinguish autonomic neuropathy from diseases of the end-organs themselves. This chapter reviews the inherited and acquired amyloidoses that affect the peripheral nervous system including familial amyloid polyneuropathy, and primary, secondary and senile amyloidosis. We emphasize the clinical presentation of the neurologic aspects of these diseases, physical examination findings, appropriate diagnostic evaluation, treatment and prognosis. PMID:23239211

  16. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family

    Microsoft Academic Search

    Ulrich Dillmann; Günther Heide; Bettina Dietz; Elemer Teshmar; Klaus Schimrigk

    1997-01-01

    We describe two siblings affected by a motor and sensory neuropathy starting in childhood. Already in infancy, a spastic\\u000a gait disturbance had become obvious, leading later to multiple surgical interventions. In adolescence, progressive loss of\\u000a vision developed. At the time of our examination, both siblings showed severe weakness and atrophy of the distal muscles of\\u000a legs and arms. Tendon jerks

  17. Brain Metabolic Profiles Obtained by Proton MRS in Two Forms of Mitochondriopathies: Leber’s Hereditary Optic Neuropathy and Chronic Progressive External Ophthalmoplegia

    Microsoft Academic Search

    Anne-Marie Salvan; Jean Vion-Dury; Sylviane Confort-Gouny; Iban Sangla; Jean. Pouget; Patrick J. Cozzone

    1998-01-01

    The status of brain metabolism has been evaluated using monovoxel short echo time (20 ms) 1H magnetic resonance spectroscopy in 6 patients with two forms of mitochondrial disorders without clinical cerebral involvement: 2 patients with Leber’s hereditary optic neuropathy (LHON) and 4 patients with chronic progressive external ophthalmoplegia (CPEO). Patients with LHON displayed normal spectra. In all patients with CPEO,

  18. [Sarcoid neuropathy].

    PubMed

    Koga, Michiaki

    2014-08-01

    Sarcoid neuropathy, a rare condition which is seen in 1% of patients with sarcoidosis, often emerges as one of the differential diagnoses of neuropathies with an unknown origin. Recent studies have revealed that sarcoid neuropathy shows a broader spectrum of clinical characteristics than previously expected, including a Guillain-Barré- or chronic inflammatory demyelinating polyneuropathy-like presentation, small fiber neuropathy, and typical subacute multiple mononeuropathy. This makes the diagnosis difficult in certain cases. Due to the lack of diagnostic markers for this condition, neurological, laboratory, neurophysiological, and image analyses are all necessary to evaluate the probability of sarcoid neuropathy during differential diagnosis. This review mentions several cues for guiding the diagnosis, and diagnostic criteria. PMID:25082319

  19. Sequential, non-arteritic anterior ischemic optic neuropathy in patients taking sildenafil: a report of ten cases

    PubMed Central

    Galvez-Ruiz, Alberto; Arishi, Nawal

    2013-01-01

    Aim/purpose To present a summary of 10 cases of non-arteritic anterior ischemic optic neuropathy (NAION) in patients who received phosphodiesterase type 5 (PDE-5) inhibitors. Methods A case series of 10 patients who, after regular intake of Sildenafil, presented with a first episode of NAION in one eye. NAION was diagnosed based on the following criteria: acute, painless, unilateral loss of vision, fundus features consistent with NAION and exclusion of other possible causes. Results Despite the initial adverse event (first episode of NAION), all of these patients continued to use the medication and developed a second episode of NAION in the contralateral eye. Only one of the 10 patients presented with bilateral simultaneous NAION. Conclusion This largest case series published to date, reinforces the general consensus that PDE-5 inhibitors are contraindicated in patients with a history of unilateral NAION. PMID:24409087

  20. Predictive Factors for Vision Recovery after Optic Nerve Decompression for Chronic Compressive Neuropathy: Systematic Review and Meta-Analysis

    PubMed Central

    Carlson, Andrew P.; Stippler, Martina; Myers, Orrin

    2012-01-01

    Objectives?Surgical optic nerve decompression for chronic compressive neuropathy results in variable success of vision improvement. We sought to determine the effects of various factors using meta-analysis of available literature. Design?Systematic review of MEDLINE databases for the period 1990 to 2010. Setting?Academic research center. Participants?Studies reporting patients with vision loss from chronic compressive neuropathy undergoing surgery. Main outcome measures?Vision outcome reported by each study. Odds ratios (ORs) and 95% confidence intervals (CIs) for predictor variables were calculated. Overall odds ratios were then calculated for each factor, adjusting for inter study heterogeneity. Results?Seventy-six studies were identified. Factors with a significant odds of improvement were: less severe vision loss (OR 2.31[95% CI?=?1.76 to 3.04]), no disc atrophy (OR 2.60 [95% CI?=?1.17 to 5.81]), smaller size (OR 1.82 [95% CI?=?1.22 to 2.73]), primary tumor resection (not recurrent) (OR 3.08 [95% CI?=?1.84 to 5.14]), no cavernous sinus extension (OR 1.88 [95% CI?=?1.03 to 3.43]), soft consistency (OR 4.91 [95% CI?=?2.27 to 10.63]), presence of arachnoid plane (OR 5.60 [95% CI?=?2.08 to 15.07]), and more extensive resection (OR 0.61 [95% CI?=?0.4 to 0.93]). Conclusions?Ophthalmologic factors and factors directly related to the lesion are most important in determining vision outcome. The decision to perform optic nerve decompression for vision loss should be made based on careful examination of the patient and realistic discussion regarding the probability of improvement. PMID:24436885

  1. [New insights into the pathogenesis of glaucomatous optic neuropathy and refinement of the objective assessment of its functional damage].

    PubMed

    Nakamura, Makoto

    2012-03-01

    Glaucomatous optic neuropathy is a primary pathological condition responsible for visual dysfunction due to glaucoma. However, how intraocular pressure and other risk factors lead to glaucomatous optic neuropathy is not fully understood. Given that static or kinetic visual field tests for evaluating visual dysfunction in glaucomatous optic neuropathy are a subjective assessments based on a psychophysical principle, the development of a tool for objective assessment of the visual field is needed. In this study, we attempt to elucidate the pathophysiology of glaucomatous optic neuropathy and to refine a modality for the objective assessment of the visual dysfunction due to it. Aquaporin (AQP) water channels are located primarily in the plasma membrane. These proteins form either a homo- or hetero-tetramer and allow water to cross the plasma membrane bi-directionally. The transmembrane water movement through AQPs is critically involved in the maintenance of normal neuronal activity. Among the 13 isoforms indentified so far, AQP-4 is known to be expressed in the retrobulbar portion of the optic nerve. However, the optic nerve head, the primary pathological site of glaucomatous optic neuropathy, reportedly does not express AQP-4. We found that in control rats, astrocytes throughout the optic nerve express AQP-9. The chronic elevation of intraocular pressure due to cauterization of three episcleral veins substantially reduced both gene expression and immunoreactivity of AQP-9, whereas it did not change the AQP-4 gene or protein expression in the retrobulbar portion of the optic nerve. These findings are implicated in the chronic elevation of intraocular pressure in astrocytes. Similar findings were also observed in the eyes of a monkey with angle-laser-induced ocular hypertension and of a human with primary open-angle glaucoma. AQP-9 was also expressed in the cell bodies of retinal ganglion cells in control rats and its expression was significantly reduced in the eyes of rats with ocular hypertension. Recently, the astrocyte-to-neuron lactate shuttle hypothesis has been proposed. This hypothesis suggests that lactate generated by glucose during glycolysis in astrocytes is used by neurons as an energy substrate. Given that AQP-9 belongs to an aquaglyceroporin subfamily and allows solutes other than water (e.g., lactate) to cross the plasma membrane, chronic ocular hypertension may perturb this physiological passage of lactate. Thus, lactate as the energy substrate may be unable to be transported from astrocytes to retinal ganglion cells at the cell bodies and axons due to the reduction of AQP-9 expression by astrocytes at the optic nerve head and retinal ganglion cells. The multifocal visual evoked potential (mfVEP) is an objective visual field test, which enables the recording of cortical potential corresponding to 60 local retinal areas simultaneously. Evidence is accumulating that the signal-to-noise ratio (SNR) has been enhanced by recording mfVEPs from multiple channels at the same time. However, previous studies evaluated the mfVEPs mostly in Caucasians. It has not yet been proven whether this strategy is applicable to Japanese people who have a skull frame that may be different from that of Caucasians. We calculated the relative position of the calcarine landmark for electrode placement during the mfVEP recording, from brain MRI images of 200 individuals, which were found to be 1 cm lower than those reported in Caucasians with a statistical significance. Then, we recorded mfVEPs from 110 normal controls using three channels and conducted receiver-operating characteristic (ROC) curve analysis of the overlap of SNR distribution at signal and noise windows. We found that a combination of one horizontal channel straddling the inion with either one of the two perpendicular vertical channels yielded the largest area under the ROC curve (AUC). Next, we showed that the SNR-AUC exhibited a similar diagnostic performance to, and a significant correlation with, a total deviation of the Humphrey visual field in 56 eyes with mild to

  2. Peripheral Neuropathy

    MedlinePLUS

    ... may damage nerves and cause peripheral neuropathy. Medication toxicity can be caused by many agents in addition ... causes such as infection, toxin exposure, medication-related toxicity, vitamin deficiencies, hormonal deficiencies, autoimmune disorders, or compression ...

  3. Hereditary Neuropathies

    MedlinePLUS

    ... and autonomic neuropathy. The most common type is Charcot-Marie-Tooth disease, one of the hereditary motor ... 722-8396 Related NINDS Publications and Information NINDS Charcot-Marie-Tooth Disease Information Page Charcot-Marie-Tooth ...

  4. Giant Axonal Neuropathy

    MedlinePLUS

    NINDS Giant Axonal Neuropathy Information Page Table of Contents (click to jump to sections) What is Giant Axonal Neuropathy? Is there any treatment? ... being done? Clinical Trials What is Giant Axonal Neuropathy? Giant axonal neuropathy (GAN) is a rare inherited ...

  5. Differential monocular vs. binocular pupil responses from melanopsin-based photoreception in patients with anterior ischemic optic neuropathy.

    PubMed

    Tsika, Chrysanthi; Crippa, Sylvain V; Kawasaki, Aki

    2015-01-01

    We examined the effect of anterior ischemic optic neuropathy (AION) on the activity of intrinsically photosensitive retinal ganglion cells (ipRGCs) using the pupil as proxy. Eighteen patients with AION (10 unilateral, 8 bilateral) and 29 age-matched control subjects underwent chromatic pupillometry. Red and blue light stimuli increasing in 0.5?log steps were presented to each eye independently under conditions of dark and light adaptation. The recorded pupil contraction was plotted against stimulus intensity to generate scotopic and photopic response curves for assessment of synaptically-mediated ipRGC activity. Bright blue light stimuli presented monocularly and binocularly were used for melanopsin activation. The post-stimulus pupil size (PSPS) at the 6th second following stimulus offset was the marker of intrinsic ipRGC activity. Finally, questionnaires were administered to assess the influence of ipRGCs on sleep. The pupil response and PSPS to all monocularly-presented light stimuli were impaired in AION eyes, indicating ipRGC dysfunction. To binocular light stimulation, the PSPS of AION patients was similar to that of controls. There was no difference in the sleep habits of the two groups. Thus after ischemic injury to one or both optic nerves, the summated intrinsic ipRGC activity is preserved when both eyes receive adequate light exposure. PMID:26074032

  6. Idebenone Protects against Retinal Damage and Loss of Vision in a Mouse Model of Leber’s Hereditary Optic Neuropathy

    PubMed Central

    Heitz, Fabrice D.; Erb, Michael; Anklin, Corinne; Robay, Dimitri; Pernet, Vincent; Gueven, Nuri

    2012-01-01

    Leber’s hereditary optic neuropathy (LHON) is an inherited disease caused by mutations in complex I of the mitochondrial respiratory chain. The disease is characterized by loss of central vision due to retinal ganglion cell (RGC) dysfunction and optic nerve atrophy. Despite progress towards a better understanding of the disease, no therapeutic treatment is currently approved for this devastating disease. Idebenone, a short-chain benzoquinone, has shown promising evidence of efficacy in protecting vision loss and in accelerating recovery of visual acuity in patients with LHON. It was therefore of interest to study suitable LHON models in vitro and in vivo to identify anatomical correlates for this protective activity. At nanomolar concentrations, idebenone protected the rodent RGC cell line RGC-5 against complex I dysfunction in vitro. Consistent with the reported dosing and observed effects in LHON patients, we describe that in mice, idebenone penetrated into the eye at concentrations equivalent to those which protected RGC-5 cells from complex I dysfunction in vitro. Consequently, we next investigated the protective effect of idebenone in a mouse model of LHON, whereby mitochondrial complex I dysfunction was caused by exposure to rotenone. In this model, idebenone protected against the loss of retinal ganglion cells, reduction in retinal thickness and gliosis. Furthermore, consistent with this protection of retinal integrity, idebenone restored the functional loss of vision in this disease model. These results support the pharmacological activity of idebenone and indicate that idebenone holds potential as an effective treatment for vision loss in LHON patients. PMID:23028832

  7. Differential monocular vs. binocular pupil responses from melanopsin-based photoreception in patients with anterior ischemic optic neuropathy

    PubMed Central

    Tsika, Chrysanthi; Crippa, Sylvain V.; Kawasaki, Aki

    2015-01-01

    We examined the effect of anterior ischemic optic neuropathy (AION) on the activity of intrinsically photosensitive retinal ganglion cells (ipRGCs) using the pupil as proxy. Eighteen patients with AION (10 unilateral, 8 bilateral) and 29 age-matched control subjects underwent chromatic pupillometry. Red and blue light stimuli increasing in 0.5?log steps were presented to each eye independently under conditions of dark and light adaptation. The recorded pupil contraction was plotted against stimulus intensity to generate scotopic and photopic response curves for assessment of synaptically-mediated ipRGC activity. Bright blue light stimuli presented monocularly and binocularly were used for melanopsin activation. The post-stimulus pupil size (PSPS) at the 6th second following stimulus offset was the marker of intrinsic ipRGC activity. Finally, questionnaires were administered to assess the influence of ipRGCs on sleep. The pupil response and PSPS to all monocularly-presented light stimuli were impaired in AION eyes, indicating ipRGC dysfunction. To binocular light stimulation, the PSPS of AION patients was similar to that of controls. There was no difference in the sleep habits of the two groups. Thus after ischemic injury to one or both optic nerves, the summated intrinsic ipRGC activity is preserved when both eyes receive adequate light exposure. PMID:26074032

  8. Pupil responses derived from outer and inner retinal photoreception are normal in patients with hereditary optic neuropathy.

    PubMed

    Kawasaki, Aki; Collomb, Sylvie; Léon, Lorette; Münch, Mirjam

    2014-03-01

    We compared the pupil responses originating from outer versus inner retinal photoreception between patients with isolated hereditary optic neuropathy (HON, n = 8) and healthy controls (n = 8). Three different testing protocols were used. For the first two protocols, a response function of the maximal pupil contraction versus stimulus light intensity was generated and the intensity at which half of the maximal pupil contraction, the half-max intensity, was determined. For the third protocol, the pupil size after light offset, the re-dilation rate and re-dilation amplitude were calculated to assess the post-light stimulus response. Patients with HON had bilateral, symmetric optic atrophy and significant reduction of visual acuity and visual field compared to controls. There were no significant mean differences in the response curve and pupil response parameters that reflect mainly rod, cone or melanopsin activity between patients and controls. In patients, there was a significant correlation between the half-max intensity of the red light sequence and visual field loss. In conclusion, pupil responses derived from outer or inner retinal photoreception in HON patients having mild-to moderate visual dysfunction are not quantitatively different from age-matched controls. However, an association between the degree of visual field loss and the half-max intensity of the cone response suggests that more advanced stages of disease may lead to impaired pupil light reflexes. PMID:24275502

  9. Hyperhomocyst(e)inaemia, but not MTHFR C677T mutation, as a risk factor for non-arteritic ischaemic optic neuropathy

    Microsoft Academic Search

    Martin Weger; Olaf Stanger; Hannes Deutschmann; Michael Simon; Wilfried Renner; Otto Schmut; Jürgen Semmelrock; Anton Haas

    2001-01-01

    BACKGROUND\\/AIMSHyperhomocyst(e)inaemia has been identified as a strong risk factor for stroke, myocardial infarction, and deep vein thrombosis. A point mutation of methylene tetrahydrofolate reductase (MTHFR C677T) has been associated with increased plasma homocyst(e)ine levels. To investigate whether hyperhomocyst(e)inaemia and\\/or MTHFR C677T mutation are associated with non-arteritic ischaemic optic neuropathy (NAION), a case-control study including 59 consecutive patients with NAION and

  10. The Pupil Light Reflex in Leber's Hereditary Optic Neuropathy: Evidence for Preservation of Melanopsin-Expressing Retinal Ganglion Cells

    PubMed Central

    Moura, Ana Laura A.; Nagy, Balázs V.; La Morgia, Chiara; Barboni, Piero; Oliveira, André Gustavo Fernandes; Salomăo, Solange R.; Berezovsky, Adriana; de Moraes-Filho, Milton Nunes; Chicani, Carlos Filipe; Belfort, Rubens; Carelli, Valerio; Sadun, Alfredo A.; Hood, Donald C.; Ventura, Dora Fix

    2013-01-01

    Purpose. To investigate the pupillary light reflex (PLR) of patients with severe loss of vision due to Leber's Hereditary Optic Neuropathy (LHON) in the context of a proposed preservation of melanopsin-expressing retinal ganglion cells (mRGCs). Methods. Ten LHON patients (7 males; 51.6 ± 14.1 years), with visual acuities ranging from 20/400 to hand motion perception and severe visual field losses, were tested and compared with 16 healthy subjects (7 males; 42.15 ± 15.4 years) tested as controls. PLR was measured with an eye tracker and the stimuli were controlled with a Ganzfeld system. Pupil responses were measured monocularly, to 1 second of blue (470 nm) and red (640 nm) flashes with 1, 10, 100, and 250 cd/m2 luminances. The normalized amplitude of peak of the transient PLR and the amplitude of the sustained PLR at 6 seconds after the flash offset were measured. In addition, optical coherence topography (OCT) scans of the peripapillary retinal nerve fiber layer were obtained. Results. The patient's peak PLR responses were on average 15% smaller than controls (P < 0.05), but 5 out of 10 patients had amplitudes within the range of controls. The patients' sustained PLRs were comparable with controls at lower flash intensities, but on average, 27% smaller to the 250 cd/m2 blue light, although there was considerable overlap with the PLR amplitudes of control. All patients had severe visual field losses and the retinal nerve fiber layer thickness was reduced to a minimum around the optic disc in 8 of the 10 patients. Conclusions. The PLR is maintained overall in LHON patients despite the severity of optic atrophy. These results are consistent with previous evidence of selective preservation of mRGCs. PMID:23737476

  11. [Autoimmune neuropathy].

    PubMed

    Hansen, P R

    1989-10-30

    Chronic progressive polyneuropathy is frequently cryptogenic but occurs in association with monoclonal gammopathy. In cases of this type, a relatively mild, mainly axonal sensomotor neuropathy is frequently present and may be difficult to distinguish from carcinomatous neuropathy in malignant conditions without the presence of the M-component. In benign essential gammopathy (MGUS) with an M-component of IgM-kappa class, the neuropathy is frequently demyelinizing and the paraprotein reacts specifically with carbohydrate determinants in myelin-associated glycoprotein (MAG) and other glycoproteins and glycolipids in peripheral nerve tissue. Demonstration is undertaken by immune fluorescence investigation (eg on skin biopsy material) whereas serological diagnosis involves difficulties. There is much evidence to suggest that the autoimmune reaction is of significance for the development of nerve damage and uncontrolled trials have shown beneficial effects of immune suppression including plasmapherisis. The latter treatment should be considered in the Guillain-Barré syndrome, neuropathy and HIV-infection and also in motor neurone disease and IgM-MGUS, in which autoimmunological mechanisms may also be of pathophysiological significance. PMID:2686140

  12. Acoustic effects at interaction of laser radiation with a liquid accompanied by optical breakdown

    NASA Astrophysics Data System (ADS)

    Bulanov, A. V.; Nagorny, I. G.

    2012-09-01

    The experimental researches of acoustic emission from optical breakdown in liquids are presented. Spectral characteristics and power of the acoustic waves generated in a liquid by optical breakdown at interaction of laser radiation with the wavelength of 532 nanometers were studied. It is shown, that two spectral maxima characterizing acoustic emission are observed. The shift of low-frequency maximum depending on the laser energy pulse is observed. As a whole, the linear dependence of acoustic pressure on the energy of laser pulse is observed. It is shown, that using acoustic data it is possible to reproduce function R(t) which will be in accord with characteristic dependences R(t), obtained from optical data. The last is especially important for breakdown studying in opaque environments.

  13. Multifocal Motor Neuropathy

    MedlinePLUS

    ... Diversity Find People About NINDS NINDS Multifocal Motor Neuropathy Information Page Table of Contents (click to jump ... done? Clinical Trials Organizations What is Multifocal Motor Neuropathy? Multifocal motor neuropathy is a progressive muscle disorder ...

  14. Additional Types of Neuropathy

    MedlinePLUS

    ... A A Listen En Espańol Additional Types of Neuropathy Charcot's Joint Charcot's Joint, also called neuropathic arthropathy, ... can stop bone destruction and aid healing. Cranial Neuropathy Cranial neuropathy affects the 12 pairs of nerves ...

  15. Acquired inflammatory demyelinating neuropathies.

    PubMed

    Ensrud, E R; Krivickas, L S

    2001-05-01

    The acquired demyelinating neuropathies can be divided into those with an acute onset and course and those with a more chronic course. The acute neuropathies present as Guillain-Barré syndrome and include acute inflammatory demyelinating polyradiculoneuropathy (AIDP), Miller Fisher syndrome, acute motor axonal neuropathy (AMAN), acute motor and sensory axonal neuropathy (AMSAN), and acute pandysautonomia. The chronic neuropathies are collectively known as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and include MADSAM (multifocal acquired demyelinating sensory and motor neuropathy, also know as Lewis-Sumner syndrome) and DADS (distal acquired demyelinating symmetric neuropathy) as variants. The clinical features, pathology, pathogenesis, diagnosis, treatment, rehabilitation, and prognosis of these neuropathies are discussed. PMID:11345010

  16. Steroid-responsive optic neuropathy in a patient with Tolosa-Hunt syndrome: Electrophysiologic findings

    Microsoft Academic Search

    Shuichi Yamamoto; Hiroki Yano; Megumi Kamiyama; Tetsuya Yamada; Seiji Hayasaka

    1996-01-01

    We examined visual evoked potentials and pattern electroretinograms in a patient with Tolosa-Hunt syndrome associated with\\u000a optic nerve involvement. The 82-year-old woman developed unilateral painful ophthalmoplegia and visual loss in the right eye.\\u000a Magnetic resonance imaging showed an abnormal soft-tissue area in the right cavernous sinus and the right orbital apex. Symptoms\\u000a responded rapidly to treatment with corticosteroid. Visual evoked

  17. Disappearance of holographic and interference fringes accompanies optical diagnostics of a supersonic bow shock flow

    NASA Astrophysics Data System (ADS)

    Toker, Grigory; Korneev, Nikolay

    2008-02-01

    Preliminary results of optical diagnostics of bow shocks in a supersonic wind tunnel by applying dual-hologram shear interferometry technique are discussed. A strong refraction effect of the probing beam penetrating a region in the vicinity of a bow shock over a blunt nose cone model has been discovered. On a signal hologram the effect leads to the disappearance of holographic fringes in a narrow region attached to the shock wave front. A reconstructed interferogram in this region manifests the absence of an interference pattern. Computer simulations were performed for a part of the probing beam penetrating the area of high-density steep gradients of compressed air attached to the central part of the shock front of a bow shock. The compressed area was modeled as a hyperbolic cap. The bow shock was assumed axisymmetric. The simulations made it possible to evaluate angles of deflections and found conformity with reconstructed interferograms (shadowgraphs). It is concluded that in the above-indicated region of bow shocks probing light is deviated refractively into some angles, which could be large enough for light rays to be blocked out and never arrive at the detector (photo film)E In the case when interferometric fringes disappear, the effect of strong refraction makes it impossible to measure air density gradients in some critical region.

  18. Crowdsourcing as a Screening Tool to Detect Clinical Features of Glaucomatous Optic Neuropathy from Digital Photography

    PubMed Central

    Mitry, Danny; Peto, Tunde; Hayat, Shabina; Blows, Peter; Morgan, James; Khaw, Kay-Tee; Foster, Paul J.

    2015-01-01

    Aim Crowdsourcing is the process of simplifying and outsourcing numerous tasks to many untrained individuals. Our aim was to assess the performance and repeatability of crowdsourcing in the classification of normal and glaucomatous discs from optic disc images. Methods Optic disc images (N = 127) with pre-determined disease status were selected by consensus agreement from grading experts from a large cohort study. After reading brief illustrative instructions, we requested that knowledge workers (KWs) from a crowdsourcing platform (Amazon MTurk) classified each image as normal or abnormal. Each image was classified 20 times by different KWs. Two study designs were examined to assess the effect of varying KW experience and both study designs were conducted twice for consistency. Performance was assessed by comparing the sensitivity, specificity and area under the receiver operating characteristic curve (AUC). Results Overall, 2,540 classifications were received in under 24 hours at minimal cost. The sensitivity ranged between 83–88% across both trials and study designs, however the specificity was poor, ranging between 35–43%. In trial 1, the highest AUC (95%CI) was 0.64(0.62–0.66) and in trial 2 it was 0.63(0.61–0.65). There were no significant differences between study design or trials conducted. Conclusions Crowdsourcing represents a cost-effective method of image analysis which demonstrates good repeatability and a high sensitivity. Optimisation of variables such as reward schemes, mode of image presentation, expanded response options and incorporation of training modules should be examined to determine their effect on the accuracy and reliability of this technique in retinal image analysis. PMID:25692287

  19. Peripheral neuropathy associated with mitochondrial disease in children.

    PubMed

    Menezes, Manoj P; Ouvrier, Robert A

    2012-05-01

    Mitochondrial diseases in children are often associated with a peripheral neuropathy but the presence of the neuropathy is under-recognized because of the overwhelming involvement of the central nervous system (CNS). These mitochondrial neuropathies are heterogeneous in their clinical, neurophysiological, and histopathological characteristics. In this article, we provide a comprehensive review of childhood mitochondrial neuropathy. Early recognition of neuropathy may help with the identification of the mitochondrial syndrome. While it is not definite that the characteristics of the neuropathy would help in directing genetic testing without the requirement for invasive skin, muscle or liver biopsies, there appears to be some evidence for this hypothesis in Leigh syndrome, in which nuclear SURF1 mutations cause a demyelinating neuropathy and mitochondrial DNA MTATP6 mutations cause an axonal neuropathy. POLG1 mutations, especially when associated with late-onset phenotypes, appear to cause a predominantly sensory neuropathy with prominent ataxia. The identification of the peripheral neuropathy also helps to target genetic testing in the mitochondrial optic neuropathies. Although often subclinical, the peripheral neuropathy may occasionally be symptomatic and cause significant disability. Where it is symptomatic, recognition of the neuropathy will help the early institution of rehabilitative therapy. We therefore suggest that nerve conduction studies should be a part of the early evaluation of children with suspected mitochondrial disease. PMID:22435634

  20. Subacute diabetic proximal neuropathy

    NASA Technical Reports Server (NTRS)

    Pascoe, M. K.; Low, P. A.; Windebank, A. J.; Litchy, W. J.

    1997-01-01

    OBJECTIVE: To evaluate the clinical, electrophysiologic, autonomic, and neuropathologic characteristics and the natural history of subacute diabetic proximal neuropathy and its response to immunotherapy. MATERIAL AND METHODS: For the 12-year period from 1983 to 1995, we conducted a retrospective review of medical records of Mayo Clinic patients with diabetes who had subacute onset and progression of proximal weakness. The responses of treated versus untreated patients were compared statistically. RESULTS: During the designated study period, 44 patients with subacute diabetic proximal neuropathy were encountered. Most patients were middle-aged or elderly, and no sex preponderance was noted. The proximal muscle weakness often was associated with reduced or absent lower extremity reflexes. Associated weight loss was a common finding. Frequently, patients had some evidence of demyelination on nerve conduction studies, but it invariably was accompanied by concomitant axonal degeneration. The cerebrospinal fluid protein concentration was usually increased. Diffuse and substantial autonomic failure was generally present. In most cases, a sural nerve biopsy specimen suggested demyelination, although evidence of an inflammatory infiltrate was less common. Of 12 patients who received treatment (with prednisone, intravenous immune globulin, or plasma exchange), 9 had improvement of their conditions, but 17 of 29 untreated patients (59%) with follow-up also eventually had improvement, albeit at a much slower rate. Improvement was usually incomplete. CONCLUSION: We suggest that the entity of subacute diabetic proximal neuropathy is an extensive and severe variant of bilateral lumbosacral radiculoplexopathy, with some features suggestive of an immune-mediated cause. It differs from chronic inflammatory demyelinating polyradiculoneuropathy in that most cases have a more restricted distribution and seem to be monophasic and self-limiting. The efficacy of immunotherapy is unproved, but such intervention may be considered in the severe and progressive cases or ones associated with severe neuropathic pain.

  1. Ciliary neurotrophic factor (CNTF)-mediated ganglion cell survival in a rodent model of non-arteritic anterior ischaemic optic neuropathy (NAION)

    PubMed Central

    Mathews, Michaela K; Guo, Yan; Langenberg, Patricia; Bernstein, Steven L

    2015-01-01

    Background Ciliary neurotrophic factor (CNTF) has been shown to protect retinal ganglion cells (RGCs) in traumatic optic nerve injury. We sought to evaluate this neuroprotective effect of CNTF after an ischaemic event using rodent anterior ischaemic optic neuropathy (rAION), a mouse model of non-arteritic anterior ischaemic optic neuropathy (NAION). Methods We induced rAION in Thy1-cyan fluorescent protein (CFP) transgenic mice by exposing the optic nerve to frequency doubled neodymium yttrium aluminium garnet laser pulses following intravenous rose bengal injection. One day after rAION induction, an intravitreal injection of 0.75 ?g CNTF or vehicle (sham injection) was given. Animals were euthanised on day 15 after induction, tissues isolated and CFP cells in the RGC layer were counted using stereology in flat-mounted retina. The average number of CFP-positive (CFP+) cells was determined for each study group and the percentages of RGC loss were compared between the different groups. Results Two weeks after rAION induction, significantly more (CFP+) cells were preserved in CNTF-treated eyes than in sham-injected controls. Sham-treated animals showed a 58% loss of CFP+ cells. In contrast, CFP+ cell density in CNTF-treated eyes decreased by only 10%, when compared with untreated control eyes. This increased survival was statistically significant (p<0.05). Conclusions CNTF exerts a neuroprotective effect in ischaemic optic nerve injury and promotes RGC survival, suggesting that CNTF may be effective in the clinical treatment of human NAION. PMID:25336580

  2. Analysis of Vision Loss Caused by Radiation-Induced Optic Neuropathy After Particle Therapy for Head-and-Neck and Skull-Base Tumors Adjacent to Optic Nerves

    SciTech Connect

    Demizu, Yusuke, E-mail: y_demizu@nifty.co [Department of Radiology, Hyogo Ion Beam Medical Center, Tatsuno, Hyogo (Japan); Murakami, Masao; Miyawaki, Daisuke; Niwa, Yasue [Department of Radiology, Hyogo Ion Beam Medical Center, Tatsuno, Hyogo (Japan); Akagi, Takashi [Department of Accelerator Managing, Hyogo Ion Beam Medical Center, Tatsuno, Hyogo (Japan); Sasaki, Ryohei [Division of Radiology, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Terashima, Kazuki [Department of Radiology, Hyogo Ion Beam Medical Center, Tatsuno, Hyogo (Japan); Suga, Daisaku [Department of Radiation Technology, Hyogo Ion Beam Medical Center, Tatsuno, Hyogo (Japan); Kamae, Isao [Division of Medical Statistics, Kobe University Graduate School of Medicine, Kobe, Hyogo (Japan); Hishikawa, Yoshio [Department of Radiology, Hyogo Ion Beam Medical Center, Tatsuno, Hyogo (Japan)

    2009-12-01

    Purpose: To assess the incident rates of vision loss (VL; based on counting fingers or more severe) caused by radiation-induced optic neuropathy (RION) after particle therapy for tumors adjacent to optic nerves (ONs), and to evaluate factors that may contribute to VL. Methods and Materials: From August 2001 to August 2006, 104 patients with head-and-neck or skull-base tumors adjacent to ONs were treated with carbon ion or proton radiotherapy. Among them, 145 ONs of 75 patients were irradiated and followed for greater than 12 months. The incident rate of VL and the prognostic factors for occurrence of VL were evaluated. The late effects of carbon ion and proton beams were compared on the basis of a biologically effective dose at alpha/beta = 3 gray equivalent (GyE{sub 3}). Results: Eight patients (11%) experienced VL resulting from RION. The onset of VL ranged from 17 to 58 months. The median follow-up was 25 months. No significant difference was observed between the carbon ion and proton beam treatment groups. On univariate analysis, age (>60 years), diabetes mellitus, and maximum dose to the ON (>110 GyE{sub 3}) were significant, whereas on multivariate analysis only diabetes mellitus was found to be significant for VL. Conclusions: The time to the onset of VL was highly variable. There was no statistically significant difference between carbon ion and proton beam treatments over the follow-up period. Based on multivariate analysis, diabetes mellitus correlated with the occurrence of VL. A larger study with longer follow-up is warranted.

  3. Mitochondrial neuropathy.

    PubMed

    Finsterer, Josef

    2005-04-01

    Polyneuropathy is a frequent feature of mitochondriopathy (MCP). If and how often polyneuropathy in MCP is primarily due to the underlying disorder (mitochondrial neuropathy, MN) or due to other well-known causes is unknown. Retrospectively investigated were 108 MCP-patients with polyneuropathy. According to established diagnostic criteria 37 patients were classified as definite MCP, 56 as probable MCP and 15 as possible MCP. In 38 of the 108 MCP-patients with polyneuropathy (35%), no plausible cause for polyneuropathy other than MCP could be found. MN was characterized by weakness, muscle cramps, wasting, reduced tendon reflexes, muscle pain, ataxia, restless legs, hypesthesia, paresthesia, dysesthesia, and vegetative impairment. In 21 cases predominantly motor fibers, in 14 cases both motor and sensory fibers and in 3 cases predominantly sensory fibers were affected. Axonal degeneration was found in 19 cases, demyelination in 4 and mixed-type polyneuropathy in 15. On sural nerve biopsy axonal loss was the predominant finding. In a single case tomaculae and abnormally shaped and structured mitochondria were found. MN exists, occurs in one third of the MCP-patients with polyneuropathy, and is characterized by predominant affection of the motor and sensory fibers with diffuse, symmetric and equal distribution between upper and lower limbs and by axonal degeneration. PMID:15823672

  4. Congenital Hypomyelinating Neuropathy (CHN)

    MedlinePLUS

    ... that influence the formation of myelin, an insulating coating on nerve fibers (axons). CHN is inherited in ... these effects. Disease: Congenital Hypomyelinating Neuropathy Charcot-Marie-Tooth Disease (CMT) Peripheral Neuropathies Printer-friendly version Send ...

  5. Neuropathy secondary to drugs

    MedlinePLUS

    Neuropathy secondary to drugs is a loss of sensation or movement in a part of the body ... weakness. Many medications may affect the development of neuropathy, including: Heart or blood pressure medications Amiodarone Hydralazine ...

  6. Optic nerve atrophy

    MedlinePLUS

    Optic atrophy; Optic neuropathy ... There are many causes of optic atrophy. The most common is poor blood flow. This is called ischemic optic neuropathy. The problem most often affects older adults. ...

  7. Peripheral neuropathies 1988

    SciTech Connect

    Assal, J.P.; Liniger, C.

    1990-01-01

    The authors present results and experience in sixteen specific disciplines related to the study of nerve physiopathology, diagnosis and treatment. Twenty-two different peripheral neuropathies are presented, and different models related to health care strategies are discussed. The authors report on Inflammatory and autoimmune neuropathies and Genetic neuropathies.

  8. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

    PubMed

    Zhang, Juanjuan; Jiang, Pingping; Jin, Xiaofen; Liu, Xiaoling; Zhang, Minglian; Xie, Shipeng; Gao, Min; Zhang, Sai; Sun, Yan-Hong; Zhu, Jinping; Ji, Yanchun; Wei, Qi-Ping; Tong, Yi; Guan, Min-Xin

    2014-09-01

    In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. A mutational screening of ND1 gene in a cohort of 1070 Han Chinese subjects LHON identified the m.3635G>A mutation in nine Chinese families with suggestively maternally transmitted LHON. Thirty-eight (22 males/16 females) of 162 matrilineal relatives in these families exhibited the variable severity and age-at-onset of optic neuropathy. Molecular analysis of their mitochondrial genomes identified the homoplasmic m.3635G>A mutation and distinct sets of polymorphisms belonging to the Asian haplogroups G2a1, R11a, D4, R11a, M7b2, G1a, F1a1, B4, and N9a3, respectively. Using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from one Chinese family into mtDNA-less (?(0)) cells, we showed ~27% decrease in the activity of NADH:ubiquinone oxidoreductase (complex I) in mutant cybrids carrying the m.3635G>A mutation, compared with control cybrids. The respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis. These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cybrids. The data provide the direct evidence for the m.3635G>A mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON. PMID:25194554

  9. Entrapment neuropathies III: lower limb.

    PubMed

    Beltran, Luis S; Bencardino, Jenny; Ghazikhanian, Varand; Beltran, Javier

    2010-11-01

    Clinicians frequently encounter compressive neuropathies of the lower extremity. The clinical history and physical examination, along with electrodiagnostic testing and imaging studies, lead to the correct diagnosis. The imaging characteristics of the compression neuropathies can include acute and chronic changes in the nerves and the muscles they innervate. We provide a detailed review of compression neuropathies of the lower extremity with an emphasis on magnetic resonance (MR) imaging characteristics. We discuss the clinical presentation, etiology, anatomical location, and MR imaging appearance of these neuropathies, including the piriformis syndrome, iliacus syndrome, saphenous neuropathy, obturator neuropathy, lateral femoral cutaneous neuropathy (meralgia paresthetica), proximal tibial neuropathy, common peroneal neuropathy, deep peroneal neuropathy, superficial peroneal neuropathy, tarsal tunnel syndrome, Baxter's neuropathy, jogger's foot, sural neuropathy, and Morton's neuroma. PMID:21072728

  10. From ophthalmoplegic migraine to cranial neuropathy.

    PubMed

    Förderreuther, Stefanie; Ruscheweyh, Ruth

    2015-06-01

    Ophthalmoplegic migraine (OM)/recurrent painful ophthalmoplegic neuropathy (RPON) is a rare disease consisting of recurrent unilateral headache accompanied or followed by ipsilateral ophthalmoplegia. Because MRI findings suggest neuropathy and the relationship to typical migraine remains unclear, the disease has been renamed from "ophthalmoplegic migraine" to "recurrent painful oculomotor neuropathy" in the third edition of the International Classification of Headache Disorders (ICHD). However, it remains a fact that most cases of OM/RPON described in the literature have a history of migraine and that the headache during OM/RPON often has migrainous features. A more detailed clinical description of the headache during OM/RPON and additional results from imaging and possibly histology will be needed to better understand the pathophysiology of the disease and its relationship to typical migraine. PMID:26021754

  11. Sensory neuropathies including painful and toxic neuropathies

    Microsoft Academic Search

    John H. J. Wokke; Gert W. van Dijk

    1997-01-01

    In most peripheral neuropathies, dysfunction of motor and sensory nerve fibres is present. However, in some of them either\\u000a pattern may predominate or be exclusively present. In this review we describe the clinical characteristics of sensory neuropathies,\\u000a with emphasis on their possible causes. Guidelines are given for the diagnostic approach in these patients and, where possible,\\u000a suggestions are given for

  12. [HIV-associated neuropathies].

    PubMed

    Hahn, K; Husstedt, I W

    2010-04-01

    Human immunodeficiency virus (HIV)-associated polyneuropathy has become the most common neurological complication of HIV infection and is one of the main risk factors for development of a neuropathy worldwide. Therefore HIV should always be considered as an underlying cause in patients with neuropathy. Many types of peripheral neuropathies are seen in HIV infection depending on the stage of infection. The inflammatory demyelinating neuropathies both acute (Guillain-Barré syndrome, GBS) and chronic (chronic inflammatory demyelinating neuropathy, CIDP) occur mainly at the time of seroconversion or early in the course of the disease while syndromes associated with opportunistic infections like CMV (i.e. polyradiculoneuropathy) occur in the late phase of HIV infection and are related to the loss of immune function. Distal symmetrical polyneuropathy (DSP) is the most common neuropathy in HIV-infected patients. We review the clinical manifestations, epidemiology, clinical diagnostics, pathophysiology and management strategies for HIV-associated polyneuropathies. PMID:20195565

  13. Development and validation of a computerized expert system for evaluation of automated visual fields from the Ischemic Optic Neuropathy Decompression Trial

    PubMed Central

    Feldon, Steven E; Levin, Lori; Scherer, Roberta W; Arnold, Anthony; Chung, Sophia M; Johnson, Lenworth N; Kosmorsky, Gregory; Newman, Steven A; Katz, Joanne; Langenberg, Patricia; Wilson, P David; Kelman, Shalom E; Dickersin, Kay

    2006-01-01

    Background The objective of this report is to describe the methods used to develop and validate a computerized system to analyze Humphrey visual fields obtained from patients with non-arteritic anterior ischemic optic neuropathy (NAION) and enrolled in the Ischemic Optic Neuropathy Decompression Trial (IONDT). The IONDT was a multicenter study that included randomized and non-randomized patients with newly diagnosed NAION in the study eye. At baseline, randomized eyes had visual acuity of 20/64 or worse and non-randomized eyes had visual acuity of better than 20/64 or were associated with patients refusing randomization. Visual fields were measured before treatment using the Humphrey Field Analyzer with the 24-2 program, foveal threshold, and size III stimulus. Methods We used visual fields from 189 non-IONDT eyes with NAION to develop the computerized classification system. Six neuro-ophthalmologists ("expert panel") described definitions for visual field patterns defects using 19 visual fields representing a range of pattern defect types. The expert panel then used 120 visual fields, classified using these definitions, to refine the rules, generating revised definitions for 13 visual field pattern defects and 3 levels of severity. These definitions were incorporated into a rule-based computerized classification system run on Excel® software. The computerized classification system was used to categorize visual field defects for an additional 95 NAION visual fields, and the expert panel was asked to independently classify the new fields and subsequently whether they agreed with the computer classification. To account for test variability over time, we derived an adjustment factor from the pooled short term fluctuation. We examined change in defects with and without adjustment in visual fields of study participants who demonstrated a visual acuity decrease within 30 days of NAION onset (progressive NAION). Results Despite an agreed upon set of rules, there was not good agreement among the expert panel when their independent visual classifications were compared. A majority did concur with the computer classification for 91 of 95 visual fields. Remaining classification discrepancies could not be resolved without modifying existing definitions. Without using the adjustment factor, visual fields of 63.6% (14/22) patients with progressive NAION and no central defect, and all (7/7) patients with a paracentral defect, worsened within 30 days of NAION onset. After applying the adjustment factor, the visual fields of the same patients with no initial central defect and 5/7 of the patients with a paracentral defect were seen to worsen. Conclusion The IONDT developed a rule-based computerized system that consistently defines pattern and severity of visual fields of NAION patients for use in a research setting. PMID:17116264

  14. Treatment of peripheral neuropathies.

    PubMed Central

    Hallett, M; Tandon, D; Berardelli, A

    1985-01-01

    There are three general approaches to treatment of peripheral neuropathy. First, an attempt should be made to reverse the pathophysiological process if its nature can be elucidated. Second, nerve metabolism can be stimulated and regeneration encouraged. Third, even if the neuropathy itself cannot be improved, symptomatic therapy can be employed. This review outlines the options available for each approach. PMID:3003254

  15. Chronic Neuropathies – Chronic Inflammatory Demyelinating Neuropathy and Its Variants

    Microsoft Academic Search

    Sindhu Ramchandren; Richard A. Lewis

    2009-01-01

    Background: Chronic neuropathy is a highly prevalent condition, and an enormous burden to society, from a health, social and financial standpoint. Identifying new therapeutic strategies that have asignificant impact on the neuropathy patients’ quality of life has been difficult. Objective: This review presents a brief perspective on clinical evaluation of chronic neuropathies, with a focus on chronic inflammatory demyelinating neuropathy

  16. Two families with Leber's hereditary optic neuropathy carrying G11778A and T14502C mutations with haplogroup H2a2a1 in mitochondrial DNA.

    PubMed

    Qiao, Chen; Wei, Tanwei; Hu, Bo; Peng, Chunyan; Qiu, Xueping; Wei, Li; Yan, Ming

    2015-08-01

    The mitochondrial haplogroup has been reported to affect the clinical expression of Leber's hereditary optic neuropathy (LHON). The present study aimed to investigate the interaction between mutations and the haplogroup of mitochondrial DNA (mtDNA) in families. Two unrelated families with LHON were enrolled in the study, and clinical, genetic and molecular characterizations were determined in the affected and unaffected family members. Polymerase chain reaction direct sequencing was performed using 24 pairs of overlapping primers for whole mtDNA to screen for mutations and haplogroup. Bioinformatics analysis was performed to evaluate the pathogenic effect of these mtDNA mutations and the haplogroup. The G11778A mutation was identified in the two families. In addition, the members of family 2 exhibited the T14502C mutation and those in family 1 exhibited the T3394C and T14502C mutations, which were regarded as secondary mutations. The penetrance of visual loss in families 1 and 2 were 30.8 and 33.3%, respectively. In addition, the two families were found to be in the H2a2a1 haplogroup. In this limited sample size, it was demonstrated that the H2a2a1 haplogroup had a possible protective effect against LHON. Additional modifying factors, including environmental factors, lifestyle, estrogen levels and nuclear genes may also be important in LHON. PMID:25936877

  17. LHON Gene Therapy Vector Prevents Visual Loss and Optic Neuropathy Induced by G11778A Mutant Mitochondrial DNA: Biodistribution and Toxicology Profile

    PubMed Central

    Koilkonda, Rajeshwari; Yu, Hong; Talla, Venu; Porciatti, Vittorio; Feuer, William J.; Hauswirth, William W.; Chiodo, Vince; Erger, Kirsten E.; Boye, Sanford L.; Lewin, Alfred S.; Conlon, Thomas J.; Renner, Lauren; Neuringer, Martha; Detrisac, Carol; Guy, John

    2014-01-01

    Purpose. To demonstrate safety and efficacy of allotopic human ND4 for treatment of a Leber's hereditary optic neuropathy (LHON) mouse model harboring the G11778A mitochondrial mutation. Methods. We induced LHON in mice by intravitreal injection of mutant (G11778A) human ND4 DNA, responsible for most cases of LHON, that was directed to mitochondria using an AAV2 vector to which we appended a mitochondrial targeting sequence to the VP2 capsid. We then attempted rescue of visual loss using our test article (ScAAV2-P1ND4v2) containing a synthetic nuclear encoded G11778G ND4 gene that was allotopically expressed. Control mice either were uninjected or received AAV2-GFP or AAV2-mCherry. We performed RT-PCR and confocal microscopy at 2 weeks post injection. Pattern electroretinograms (PERGs), spectral-domain optical coherence tomography (SD-OCT), histology, and transmission electron microscopy (TEM) were performed. For toxicology and biodistribution studies, the test article was administered intravitreally to rats and rhesus macaques at different doses. Results. Mutant and wild-type ND4 were efficiently expressed in the mitochondria of retinal ganglion cells (RGCs). Visual function assessed by serial PERGs and retinal structure by serial SD-OCT showed a significant rescue by the test article. Histology and ultrastructural analysis confirmed that loss of RGCs and demise of axons was prevented by ScAAV2-P1ND4v2. Rat and nonhuman primate biodistribution studies showed that vector spread outside the injected eye into spleen and lymph nodes was minimal. Histopathology of tissues and organs including the eyes was comparable to that of uninfected and saline-injected eyes. Conclusions. Allotopically expressed wild-type ND4 prevents the phenotype induced by G11778A mitochondrial DNA with a toxicology profile acceptable for testing in a phase I clinical trial. PMID:25342621

  18. Fifteen novel mutations in the mitochondrial NADH dehydrogenase subunit 1, 2, 3, 4, 4L, 5 and 6 genes from Iranian patients with Leber's hereditary optic neuropathy (LHON).

    PubMed

    Rezvani, Zahra; Didari, Elmira; Arastehkani, Ahoura; Ghodsinejad, Vadieh; Aryani, Omid; Kamalidehghan, Behnam; Houshmand, Massoud

    2013-12-01

    Leber's hereditary optic neuropathy (LHON) is an optic nerve dysfunction resulting from mutations in mitochondrial DNA (mtDNA), which is transmitted in a maternal pattern of inheritance. It is caused by three primary point mutations: G11778A, G3460A and T14484C; in the mitochondrial genome. These mutations are sufficient to induce the disease, accounting for the majority of LHON cases, and affect genes that encode for the different subunits of mitochondrial complexes I and III of the mitochondrial respiratory chain. Other mutations are secondary mutations associated with the primary mutations. The purpose of this study was to determine MT-ND variations in Iranian patients with LHON. In order to determine the prevalence and distribution of mitochondrial mutations in the LHON patients, their DNA was studied using PCR and DNA sequencing analysis. Sequencing of MT-ND genes from 35 LHON patients revealed a total of 44 nucleotide variations, in which fifteen novel variations-A14020G, A13663G, C10399T, C4932A, C3893G, C10557A, C12012A, C13934T, G4596A, T12851A, T4539A, T4941A, T13255A, T14353C and del A 4513-were observed in 27 LHON patients. However, eight patients showed no variation in the ND genes. These mutations contribute to the current database of mtDNA polymorphisms in LHON patients and may facilitate the definition of disease-related mutations in human mtDNA. This research may help to understand the disease mechanism and open up new diagnostic opportunities for LHON. PMID:24158608

  19. [Vitamin D and neuropathy].

    PubMed

    Putz, Zsuzsanna; Martos, Tímea; Németh, Nóra; Körei, Anna Erzsébet; Szabó, Márta; Vági, Orsolya Erzsébet; Kempler, Miklós Soma; Kempler, Péter

    2013-12-22

    Diabetes is a widespread disease and, therefore, studies dealing with diabetes and its complications are very important for public health. Numerous reports link vitamin D deficiency to the increased risk of diabetes mellitus and complications such as neuropathy. However, there are limited and conflicting data available on vitamin D deficiency in patients with diabetic peripheral neuropathy. Studies in type 2 diabetics confirmed the relationship between vitamin D deficiency and incidence of neuropathy. Recent reports suggest a relationship between the incidence of plantar ulcers and vitamin D deficiency. PMID:24334132

  20. [Developments in hereditary neuropathies].

    PubMed

    Dubourg, O

    2012-12-01

    Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies. PMID:23153686

  1. Giant axonal neuropathy.

    PubMed

    Vijaykumar, Kadambari; Bindu, Parayil Sankaran; Taly, Arun B; Mahadevan, Anita; Bharath, Rose Dawn; Gayathri, Narayanappa; Nagappa, Madhu; Sinha, Sanjib

    2015-06-01

    Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. Evaluation showed frizzy hair, characteristic facies, sensory motor neuropathy, and ataxia. Magnetic resonance imaging (MRI) showed bilateral symmetric white matter signal changes in the cerebellum and periventricular regions along with involvement of the posterior limb of the internal capsule. Sural nerve biopsy demonstrated giant axons with neurofilament accumulation. The clinicopathologic manifestations of giant axonal neuropathy are discussed along with the clinical and histologic differential diagnoses. PMID:25213662

  2. [Painful neuropathies and small fiber involvement].

    PubMed

    Lefaucheur, J-P

    2014-12-01

    It is customary to consider that a purely sensory and painful neuropathy accompanied by normal electroneuromyographic examination may be or must be a small fiber neuropathy. This leads to perform specific tests, such as measuring the intra-epidermal nerve fiber density on skin biopsy or neurophysiological tests, such as evoked potentials to noxious stimuli (laser) or quantification of thermal sensory thresholds. However, these tests are only sensitive to the loss of small fibers (A-delta and C), which does not reflect the mechanisms responsible for peripheral neuropathic pain. Selective loss of small sensory fibers inherently generates a sensory deficit that does not necessarily present a painful character. Also, assigning the cause of a painful neuropathy to a small fiber neuropathy has no pathophysiological sense, although there are indirect links between these two conditions. In fact, it is not possible to explain univocally peripheral neuropathic pain, which reflects complex and diverse mechanisms, involving different types of nerve fibers. In this context, the clinical and laboratory approach must be improved to better understand the underlying mechanisms. It is imperative to interpret the data provided by laboratory tests and to correlate these data to the clinical signs and symptoms presented by the patients. Thus, one must go beyond many a priori and misinterpretations that unfortunately exist in this area at present and are not based on any solid pathophysiological basis. PMID:25459125

  3. HIV peripheral neuropathy.

    PubMed

    Gabbai, Alberto Alain; Castelo, Adauto; Oliveira, Acary Souza Bulle

    2013-01-01

    Peripheral neuropathies are the most common neurological manifestations occurring in HIV-infected individuals. Distal symmetrical sensory neuropathy is the most common form encountered today and is one of the few that are specific to HIV infection or its treatment. The wide variety of other neuropathies is akin to the neuropathies seen in the general population and should be managed accordingly. In the pre-ART era, neuropathies were categorized according to the CD4 count and HIV viral load. In the early stages of HIV infection when CD4 count is high, the inflammatory demyelinating neuropathies predominate and in the late stages with the decline of CD4 count opportunistic infection-related neuropathies prevail. That scenario has changed with the present almost universal use of ART (antiretroviral therapy). Hence, HIV-associated peripheral neuropathies are better classified according to their clinical presentations: distal symmetrical polyneuropathy, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), mononeuropathies, mononeuropathies multiplex and cranial neuropathies, autonomic neuropathy, lumbosacral polyradiculomyelopathy, and amyotrophic lateral sclerosis (ALS)-like motor neuropathy. Treated with ART, HIV-infected individuals are living longer and are at a higher risk of metabolic and age-related complications; moreover they are also prone to the potentially neurotoxic effects of ART. There are no epidemiological data regarding the incidence and prevalence of the peripheral neuropathies. In the pre-ART era, most data were from case reports, series of patients, and pooled autopsy data. At that time the histopathological evidence of neuropathies in autopsy series was almost 100%. In large prospective cohorts presently being evaluated, it has been found that 57% of HIV-infected individuals have distal symmetrical sensory neuropathy and 38% have neuropathic pain. It is now clear that distal symmetrical sensory neuropathy is caused predominantly by the ART's neurotoxic effect but may also be caused by the HIV itself. With a sizeable morbidity, the neuropathic pain caused by distal symmetrical sensory neuropathy is very difficult to manage; it is often necessary to change the ART regimen before deciding upon the putative role of HIV infection itself. If the change does not improve the pain, there are few options available; the most common drugs used for neuropathic pain are usually not effective. One is left with cannabis, which cannot be recommended as routine therapy, recombinant human nerve growth factor, which is unavailable, and topical capsaicin with its side-effects. Much has been done to and learned from HIV infection in humans; HIV-infected individuals, treated with ART, are now dying mostly from cardiovascular disease and non-AIDS-related cancers. It hence behooves us to find new approaches to mitigate the residual neurological morbidity that still impacts the quality of life of that population. PMID:23931799

  4. Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy

    PubMed Central

    Bi, Rui; Zhang, A-Mei; Jia, Xiaoyun; Zhang, Qingjiong

    2012-01-01

    Purpose The majority of Leber hereditary optic neuropathy (LHON) cases are caused by one of three mitochondrial DNA (mtDNA) primary mutations (m.3460G>A, m.11778G>A, and m.14484T>C). In recent studies, we and others have shown that mutation m.3635G>A is a primary LHON mutation, particularly in Chinese. The purpose of this study was to perform a thorough analysis for the complete mtDNA genome sequence variation in Chinese patients with m.3635G>A and to identify potentially functional variants cosegregated with m.3635G>A. Methods The complete mtDNA genomes of five Chinese patients with LHON carrying m.3635G>A were determined. A phylogenetic tree was constructed to distinguish the private and ancestral mtDNA variants in each lineage. Previously unreported variants in each mtDNA were defined with a web-based and database search. mtDNA variants that changed the structure of the membrane-spanning region of the protein were also evaluated, together with evolutionary conservation analysis, to predict their potential pathogenicity. Results The five patients with LHON sequenced in this study belonged to haplogroups M7b4 (Le131), F1a (Le329 and Le337), B5b (Le569), and M7b6 (Le834), which suggested multiple origins of m.3635G>A. Private variants m.12811T>C, m.14063T>C, m.15237T>C, and m.9071C>T in these patients were predicted to change the structure of the membrane-spanning region of the respective proteins. Conclusions Mutation m.3635G>A had multiple origins in Chinese patients with LHON. We also identified several potentially functional variants cosegregated with m.3635G>A. PMID:23304069

  5. Painful diabetic neuropathy.

    PubMed

    Peltier, Amanda; Goutman, Stephen A; Callaghan, Brian C

    2014-01-01

    Diabetes is a worldwide epidemic, and associated neuropathy is its most costly and disabling complication. Given the rising prevalence of painful diabetic neuropathy, it is increasingly important that we understand the best ways to diagnose and treat this condition. Diagnostic tests in this field are evolving rapidly. These include the use of skin biopsies to measure small unmyelinated fibers, as well as even newer techniques that can measure both small unmyelinated fibers and large myelinated fibers in the same biopsy. The main treatments for painful diabetic neuropathy remain management of the underlying diabetes and drugs for the relief of pain. However, emerging evidence points to major differences between type 1 and type 2 diabetes, including the ability of glycemic control to prevent neuropathy. Enhanced glucose control is much more effective at preventing neuropathy in patients with type 1 diabetes than in those with type 2 disease [corrected]. This dichotomy emphasizes the need to study the pathophysiologic differences between the two types of diabetes, because different treatments may be needed for each condition. The impact of the metabolic syndrome on neuropathy in patients with type 2 diabetes may account for the difference between the two types of diabetes and requires further study. Finally, neuropathic pain is under-recognized and undertreated despite an ever evolving list of effective drugs. Evidence exists to support several drugs, but the optimal sequence and combination of these drugs are still to be determined. PMID:24803311

  6. Peripheral neuropathies during biologic therapies.

    PubMed

    Yagita, Masato; Hamano, Toshiaki; Hatachi, Saori; Fujita, Masaaki

    2013-12-01

    Peripheral neuropathies should be recognized as the adverse effects of biological agents, especially anti-TNF agents. However, no solid clinical databases for biological agent-associated peripheral neuropathies (BAPN) have been established in Japan. Here we report two cases of peripheral neuropathy associated with anti-TNF agents. One was peroneal motor neuropathy. The other case was chronic inflammatory demyelinating polyradiculoneuropathy. In addition, we summarize the previous reports on BAPN and discuss their prevalence rate, pathogenesis and management. PMID:24313920

  7. Mitochondria and peripheral neuropathies.

    PubMed

    Vital, Anne; Vital, Claude

    2012-12-01

    There has been considerable progress during the past 24 years in the molecular genetics of mitochondrial DNA and related nuclear DNA mutations, and more than 100 nerve biopsies from hereditary neuropathies related to mitochondrial cytopathy have been accurately examined. Neuropathies were first reported in diseases related to point mutations of mitochondrial DNA, but they proved to be a prominent feature of the phenotype in mitochondrial disorders caused by defects in nuclear DNA, particularly in 3 genes: polymerase gamma 1 (POLG1), mitofusin 2 (MFN2), and ganglioside-induced differentiation-associated protein 1 (GDAP1). Most patients have sensory-motor neuropathy, sometimes associated with ophthalmoplegia, ataxia, seizures, parkinsonism, myopathy, or visceral disorders. Some cases are caused by consanguinity, but most are sporadic with various phenotypes mimicking a wide range of other etiologies. Histochemistry on muscle biopsy, as well as identification of crystalloid inclusions at electron microscopy, may provide a diagnostic clue to mitochondriopathy, but nerve biopsy is often less informative. Nevertheless, enlarged mitochondria containing distorted or amputated cristae are highly suggestive, particularly when located in the Schwann cell cytoplasm. Also noticeable are clusters of regenerating myelinated fibers surrounded by concentric Schwann cell processes, and such onion bulb-like formations are frequently observed in neuropathies caused by GDAP1 mutations. PMID:23147504

  8. Diabetic Neuropathy: Mechanisms to Management

    PubMed Central

    Edwards, James L.; Vincent, Andrea; Cheng, Thomas; Feldman, Eva L.

    2014-01-01

    Neuropathy is the most common and debilitating complication of diabetes and results in pain, decreased motility, and amputation. Diabetic neuropathy encompasses a variety of forms whose impact ranges from discomfort to death. Hyperglycemia induces oxidative stress in diabetic neurons and results in activation of multiple biochemical pathways. These activated pathways are a major source of damage and are potential therapeutic targets in diabetic neuropathy. Though therapies are available to alleviate the symptoms of diabetic neuropathy, few options are available to eliminate the root causes. The immense physical, psychological, and economic cost of diabetic neuropathy underscores the need for causally targeted therapies. This review covers the pathology, epidemiology, biochemical pathways, and prevention of diabetic neuropathy, as well as discusses current symptomatic and causal therapies and novel approaches to identify therapeutic targets. PMID:18616962

  9. Genetics Home Reference: Giant axonal neuropathy

    MedlinePLUS

    ... literature OMIM Genetic disorder catalog Conditions > Giant axonal neuropathy On this page: Description Genetic changes Inheritance Diagnosis ... definitions Reviewed October 2007 What is giant axonal neuropathy? Giant axonal neuropathy is an inherited condition involving ...

  10. Autonomic Neuropathy - Diagnosis and Treatment

    Microsoft Academic Search

    Joseph Prendergast

    Recent research indicates that autonomic neuropathy's most common and life-threatening consequences may be cardiac. Cardiovascular autonomic neuropathy can affect both heart rate control and cardiovascular dynamics. Add these effects to the already-serious tendency of diabetes to raise blood lipids and you have a condition ripe for disaster. Studies indicate that the onset of later-stage, symptomatic diabetic autonomic neuropathy is associated

  11. Canine inherited hypertrophic neuropathy

    Microsoft Academic Search

    J. F. Cummings; B. J. Cooper; A. Lahunta; T. J. Winkle

    1981-01-01

    A recessively inherited hypertrophic neuropathy was discovered in Tibetan Mastiff dogs. Affected pups developed a generalized weakness with hyporeflexia shortly after weaning. Diagnostic findings in 10–18-week-old pups included: moderate to severe reduction in nerve conduction velocities, infrequent denervation potentials, and inconstant elevation in CSF protein. Light- and electron-microscopic studies of peripheral nerves and roots revealed widespread demyelination and primitive onion

  12. An early diagnostic tool for diabetic peripheral neuropathy in rats.

    PubMed

    Kambiz, Shoista; van Neck, Johan W; Cosgun, Saniye G; van Velzen, Marit H N; Janssen, Joop A M J L; Avazverdi, Naim; Hovius, Steven E R; Walbeehm, Erik T

    2015-01-01

    The skin's rewarming rate of diabetic patients is used as a diagnostic tool for early diagnosis of diabetic neuropathy. At present, the relationship between microvascular changes in the skin and diabetic neuropathy is unclear in streptozotocin (STZ) diabetic rats. The aim of this study was to investigate whether the skin rewarming rate in diabetic rats is related to microvascular changes and whether this is accompanied by changes observed in classical diagnostic methods for diabetic peripheral neuropathy. Computer-assisted infrared thermography was used to assess the rewarming rate after cold exposure on the plantar skin of STZ diabetic rats' hind paws. Peripheral neuropathy was determined by the density of intra-epidermal nerve fibers (IENFs), mechanical sensitivity, and electrophysiological recordings. Data were obtained in diabetic rats at four, six, and eight weeks after the induction of diabetes and in controls. Four weeks after the induction of diabetes, a delayed rewarming rate, decreased skin blood flow and decreased density of IENFs were observed. However, the mechanical hyposensitivity and decreased motor nerve conduction velocity (MNCV) developed 6 and 8 weeks after the induction of diabetes. Our study shows that the skin rewarming rate is related to microvascular changes in diabetic rats. Moreover, the skin rewarming rate is a non-invasive method that provides more information for an earlier diagnosis of peripheral neuropathy than the classical monofilament test and MNCV in STZ induced diabetic rats. PMID:25984949

  13. Entrapment neuropathy in laparoscopic herniorrhaphy

    Microsoft Academic Search

    A. S. Seid; E. Amos

    1994-01-01

    In laparoscopic hernia repairs, the staples used to affix prosthetic mesh have resulted in entrapment neuropathies. This paper describes the diagnosis and treatment of nine cases of entrapment neuropathy. Injuries to all the branches of the lumbar plexus, with the exception of the obdurator nerve, have been treated. Generally, the entrapments are self-limiting, but chronic disability requiring surgical intervention can

  14. [Atypical neuropathies associated with diabetes].

    PubMed

    Lozeron, P

    2014-12-01

    Diabetes is the leading cause of neuropathy worldwide and, due to the epidemic progression of the affection, prevalence of diabetic neuropathies will increase in the near future. Beside the typical diabetic neuropathy pattern and the common entrapment neuropathies, several unusual clinical forms have been described with either a symmetrical or an asymmetrical pattern. Treatment-induced neuropathy is an acute sensory affection most commonly related to acute glycemic control. Pain is debilitating and associated with vegetative dysfunction. Prevention is important, as resolution is often incomplete. Several patterns or asymmetrical neuropathies of inflammatory and ischemic origin were described long ago in the lower limb. They are debilitating, most often painful and require steroid treatment. Other patterns affecting the thoracolumbar region or the upper limbs or involving a painless motor deficit must be identified as specific treatments are sometimes needed. An association between diabetes and chronic inflammatory demyelinating polyneuropathy has not been demonstrated but diagnosis may be suggested due to the misleading low conduction velocities seen in classical diabetic neuropathy. Like any other patient, the diabetic patient may present a neuropathy unrelated to diabetes. To facilitate patient care, neurologists should be aware of such clinical entities. PMID:25459114

  15. Peripheral neuropathy and solitary plasmacytoma.

    PubMed Central

    Read, D; Warlow, C

    1978-01-01

    Three patients with peripheral neuropathy and a solitary plasmacytoma are presented, and the literature is reviewed. It is suggested that middle-aged men with an obscure progressive sensorimotor neuropathy, a raised CSF protein, and otherwise negative investigations should have a full skeletal survey since irradiation of a plasmacytoma may lead to a considerable improvement in the associated neurological disability. Images PMID:204745

  16. Metabolic neuropathies and myopathies.

    PubMed

    D'Amico, Adele; Bertini, Enrico

    2013-01-01

    Inborn errors of metabolism may impact on muscle and peripheral nerve. Abnormalities involve mitochondria and other subcellular organelles such as peroxisomes and lysosomes related to the turnover and recycling of cellular compartments. Treatable causes are ?-oxidation defects producing progressive neuropathy; pyruvate dehydrogenase deficiency, porphyria, or vitamin B12 deficiency causing recurrent episodes of neuropathy or acute motor deficit mimicking Guillain-Barré syndrome. On the other hand, lysosomal (mucopolysaccharidosis, Gaucher and Fabry diseases), mitochondriopathic (mitochondrial or nuclear mutations or mDNA depletion), peroxisomal (adrenomyeloneuropathy, Refsum disease, sterol carrier protein-2 deficiency, cerebrotendinous xanthomatosis, ?-methylacyl racemase deficiency) diseases are multisystemic disorders involving also the heart, liver, brain, retina, and kidney. Pathophysiology of most metabolic myopathies is related to the impairment of energy production or to abnormal production of reactive oxygen species (ROS). Main symptoms are exercise intolerance with myalgias, cramps and recurrent myoglobinuria or limb weakness associated with elevation of serum creatine kinase. Carnitine palmitoyl transferase deficiency, followed by acid maltase deficiency, and lipin deficiency, are the most common cause of isolated rhabdomyolysis. Metabolic myopathies are frequently associated to extra-neuromuscular disorders particularly involving the heart, liver, brain, retina, skin, and kidney. PMID:23622366

  17. Diabetic corneal neuropathy.

    PubMed Central

    Schultz, R O; Peters, M A; Sobocinski, K; Nassif, K; Schultz, K J

    1983-01-01

    Corneal epithelial lesions can be found in approximately one-half of asymptomatic patients with diabetes mellitus. These lesions are transient and clinically resemble the keratopathy seen in staphylococcal keratoconjunctivitis. Staphylococcal organisms, however, can be isolated in equal percentages from diabetic patients without keratopathy. Diabetic peripheral neuropathy was found to be related to the presence of diabetic keratopathy after adjusting for age with analysis of covariance. The strongest predictor of both keratopathy and corneal fluorescein staining was vibration perception threshold in the toes (P less than 0.01); and the severity of keratopathy was directly related to the degree of diminution of peripheral sensation. Other predictors of keratopathy were: reduced tear breakup time (P less than 0.03), type of diabetes (P less than 0.01), and metabolic status as indicated by c-peptide fasting (P less than 0.01). No significant relationships were found between the presence of keratopathy and tear glucose levels, endothelial cell densities, corneal thickness measurements, the presence of S epidermidis, or with duration of disease. It is our conclusion that asymptomatic epithelial lesions in the nontraumatized diabetic cornea can occur as a manifestation of generalized polyneuropathy and probably represent a specific form of corneal neuropathy. Images FIGURE 1 FIGURE 2 FIGURE 3 PMID:6676964

  18. Neurophysiological aspects of peripheral neuropathies.

    PubMed

    MacKenzie, R A; Skuse, N F; Lethlean, A K

    1976-01-01

    1. Eighty-eight intrafascicular neural recordings were obtained in 10 normal subjects, 5 patients with axonal degeneration and 11 patients with demyelinating neuropathy. 2. Stimulus levels required for perception and fibre activation were higher in neuropathic subjects. Fibres transmitting touch perception had significantly lower conduction velocities in both patient groups, but were very much lower in the group with demyelinating neuropahty than the group with axonal degeneration. Maximum electrical stimulation evoked dispersed fibre responses in the axonal degeneration group and more dispersed, slowly conducting fibre potentials in the demyelinating group. In patients with hypertrophic Charcot-Marie-Tooth disorder, usually only a small group of slowly conducting low amplitude potentials was recorded. 3. Delivery of a train of supramaximal stimuli caused prolongation of latency and dispersion of fibre potentials in all microneurographic recordings. The changes were significantly greater in the axonal neuropathy group than in normals, and recovery was slower. The demyelinating neuropathies showed significantly greater changes than both the normal and the axonal neuropathy groups, and post-tetanic conduction slowing became even more marked after limb temperature was raised. 4. Surface SAP recordings showed normal refractory period in chronic axonal neuropathy but significant latency prolongation occurred in demyelinating neuropathy. 5. It is concluded that both receptor and nerve fibre abnormalities contribute to sensory dysfunction in degenerative and demyelinating neuropathies. PMID:196281

  19. "Pseudo" hypertrophic neuropathy of childhood.

    PubMed Central

    Baba, M; Takada, H; Miura, H; Okushima, T; Matsunaga, M

    1995-01-01

    A 9 year old boy had chronic progressive motor-sensory neuropathy that started in early infancy. He had enlarged nerves and pes cavus deformity. Motor conduction studies showed very dispersed, polyphasic compound muscle action potentials with conduction velocities around 2 m/s. A sural nerve biopsy showed severe loss of myelinated fibres. Two months of treatment with corticosteroids restored muscle power. During this time the enlarged nerves became normal and electrophysiological recovery was achieved. Chronically acquired neuropathy in infancy is strikingly similar to genetically determined neuropathy. PMID:7876860

  20. Canine inherited hypertrophic neuropathy.

    PubMed

    Cummings, J F; Cooper, B J; de Lahunta, A; van Winkle, T J

    1981-01-01

    A recessively inherited hypertrophic neuropathy was discovered in Tibetan Mastiff dogs. Affected pups developed a generalized weakness with hyporeflexia shortly after weaning. Diagnostic findings in 10-18-week-old pups included: moderate to severe reduction in nerve conduction velocities, infrequent denervation potentials, and inconstant elevation in CSF protein. Light- and electron-microscopic studies of peripheral nerves and roots revealed widespread demyelination and primitive onion bulb formation with relatively little degeneration of axons. Myelin changes often were most striking in the cytoplasmic regions of the sheaths and consisted of separations at the major dense lines, anomalous incisure patterns, and marked filamentous accumulations in the inner spirals and adaxonal cytoplasm. The results of these initial studies suggest an inborn defect in the Schwann cell's ability to form or maintain a stable myelin sheath. PMID:6259873

  1. Peripheral neuropathies associated with primary Sjögren syndrome: immunologic profiles of nonataxic sensory neuropathy and sensorimotor neuropathy.

    PubMed

    Sčne, Damien; Jallouli, Moez; Lefaucheur, Jean-Pascal; Saadoun, David; Costedoat-Chalumeau, Nathalie; Maisonobe, Thierry; Diemert, Marie-Claude; Musset, Lucile; Haroche, Julien; Piette, Jean-Charles; Amoura, Zahir; Cacoub, Patrice

    2011-03-01

    We conducted this study to characterize the relationship between primary Sjögren syndrome (pSS)-associated peripheral neuropathy (PN) and markers of B-cell monoclonal proliferation and chronic activation. The cohort included 120 consecutive patients presenting with definite pSS according to the American-European Consensus Group criteria. Serum markers of chronic B-cell activation included autoantibodies and hypergammaglobulinemia. Markers of monoclonal B-cell proliferation included mixed cryoglobulin, monoclonal gammopathy, abnormal ?/? free light chain (FLC) ratio, and B-cell non-Hodgkin lymphoma (B-NHL). Definite PN was present in 30 patients (25%) including 7 patients (23%) with sensorimotor neuropathy, 3 patients (10%) with ataxic sensory neuropathy, and 20 patients (67%) with nonataxic sensory neuropathy. Patients with a sensorimotor neuropathy differed from those without PN by higher rates of monoclonal B-cell proliferation markers, that is, mixed cryoglobulin (57% vs. 11%; p = 0.008), monoclonal gammopathy (71% vs. 17%; p = 0.004), higher FLC ratio (2.7 ± 1.5 vs. 1.7 ± 1.8; p = 0.024), and B-NHL (57% vs. 3%; p < 0.001). Patients with nonataxic sensory neuropathy were characterized by a higher age (57.5 ± 10.7 vs. 48.7 ± 14.3 years; p = 0.007), more frequent central nervous system (CNS) involvement (15% vs. 2%; p = 0.04) and a lower prevalence of chronic B-cell activation serum markers, that is, antinuclear antibodies (ANA) (60% vs. 90%; p = 0.003), anti-SSA (Ro) (40% vs. 72%; p = 0.009), anti-SSB (La) (15% vs. 41%; p = 0.039), rheumatoid factor (37% vs. 67%; p = 0.02), and hypergammaglobulinemia (35% vs. 64%; p = 0.023). In multivariate analysis, sensorimotor neuropathy was associated with the presence of B-NHL (odds ratio [OR], 39.0; p < 0.001), whereas nonataxic sensory neuropathy was associated with the presence of CNS involvement (OR, 17.0; p = 0.025) and ANA (OR, 0.07; p < 0.001). In conclusion, we found that up to 25% of pSS patients presented with PN, predominantly sensory neuropathy. Distinctive immunologic profiles were found according to the type of SS-associated neuropathy: nonataxic sensory neuropathy was marked by a low prevalence of B-cell activation markers, and sensorimotor neuropathy was marked by a high prevalence of B-cell monoclonal proliferation markers. PMID:21358442

  2. Chemotherapy-Induced Peripheral Neuropathy

    Cancer.gov

    The pain and discomfort caused by peripheral neuropathy is one of the most common reasons that cancer patients stop their treatment early. Researchers are working to improve new screening, treatment, and prevention options for patients.

  3. Medication-induced peripheral neuropathy

    Microsoft Academic Search

    Louis H. Weimer

    2003-01-01

    Although not very common, medication-induced neuropathy is a treatable condition and, therefore, is important to identify.\\u000a Medications continue to grow in number and expand in usage; consequently, toxic neuropathy continues to be relevant to neurologists.\\u000a Many agents have toxicities that are tolerated because the treatments are necessary, such as therapies for HIV and malignancy.\\u000a Additional agents to prevent or ameliorate

  4. Diabetic autonomic neuropathy.

    PubMed

    Vinik, Aaron I; Maser, Raelene E; Mitchell, Braxton D; Freeman, Roy

    2003-05-01

    Diabetic autonomic neuropathy (DAN) is a serious and common complication of diabetes. Despite its relationship to an increased risk of cardiovascular mortality and its association with multiple symptoms and impairments, the significance of DAN has not been fully appreciated. The reported prevalence of DAN varies widely depending on the cohort studied and the methods of assessment. In randomly selected cohorts of asymptomatic individuals with diabetes, approximately 20% had abnormal cardiovascular autonomic function. DAN frequently coexists with other peripheral neuropathies and other diabetic complications, but DAN may be isolated, frequently preceding the detection of other complications. Major clinical manifestations of DAN include resting tachycardia, exercise intolerance, orthostatic hypotension, constipation, gastroparesis, erectile dysfunction, sudomotor dysfunction, impaired neurovascular function, "brittle diabetes," and hypoglycemic autonomic failure. DAN may affect many organ systems throughout the body (e.g., gastrointestinal [GI], genitourinary, and cardiovascular). GI disturbances (e.g., esophageal enteropathy, gastroparesis, constipation, diarrhea, and fecal incontinence) are common, and any section of the GI tract may be affected. Gastroparesis should be suspected in individuals with erratic glucose control. Upper-GI symptoms should lead to consideration of all possible causes, including autonomic dysfunction. Whereas a radiographic gastric emptying study can definitively establish the diagnosis of gastroparesis, a reasonable approach is to exclude autonomic dysfunction and other known causes of these upper-GI symptoms. Constipation is the most common lower-GI symptom but can alternate with episodes of diarrhea. Diagnostic approaches should rule out autonomic dysfunction and the well-known causes such as neoplasia. Occasionally, anorectal manometry and other specialized tests typically performed by the gastroenterologist may be helpful. DAN is also associated with genitourinary tract disturbances including bladder and/or sexual dysfunction. Evaluation of bladder dysfunction should be performed for individuals with diabetes who have recurrent urinary tract infections, pyelonephritis, incontinence, or a palpable bladder. Specialized assessment of bladder dysfunction will typically be performed by a urologist. In men, DAN may cause loss of penile erection and/or retrograde ejaculation. A complete workup for erectile dysfunction in men should include history (medical and sexual); psychological evaluation; hormone levels; measurement of nocturnal penile tumescence; tests to assess penile, pelvic, and spinal nerve function; cardiovascular autonomic function tests; and measurement of penile and brachial blood pressure. Neurovascular dysfunction resulting from DAN contributes to a wide spectrum of clinical disorders including erectile dysfunction, loss of skin integrity, and abnormal vascular reflexes. Disruption of microvascular skin blood flow and sudomotor function may be among the earliest manifestations of DAN and lead to dry skin, loss of sweating, and the development of fissures and cracks that allow microorganisms to enter. These changes ultimately contribute to the development of ulcers, gangrene, and limb loss. Various aspects of neurovascular function can be evaluated with specialized tests, but generally these have not been well standardized and have limited clinical utility. Cardiovascular autonomic neuropathy (CAN) is the most studied and clinically important form of DAN. Meta-analyses of published data demonstrate that reduced cardiovascular autonomic function as measured by heart rate variability (HRV) is strongly (i.e., relative risk is doubled) associated with an increased risk of silent myocardial ischemia and mortality. The determination of the presence of CAN is usually based on a battery of autonomic function tests rather than just on one test. Proceedings from a consensus conference in 1992 recommended that three tests (R-R variation, Valsalva maneuver, and postural blood pressure

  5. Clinical spectrum of cryoglobulinaemic neuropathy

    PubMed Central

    Gemignani, F; Brindani, F; Alfieri, S; Giuberti, T; Allegri, I; Ferrari, C; Marbini, A

    2005-01-01

    Background and objective: Cryoglobulinaemic neuropathy (CN) is probably common, as it is usually related to HCV infection. The aim of this study was to delineate the clinical spectrum of CN in a large series and to investigate the factors influencing its expression. Methods: Seventy one consecutive patients (12 men, 59 women), diagnosed as having CN on the basis of clinical features of neuropathy, clinical and serological findings of mixed cryoglobulinaemia, and exclusion criteria, were identified during a six year period. All patients underwent clinical examination, and electrophysiological and laboratory investigations. Results: Results of the patients with "pure" CN (n = 54) and those with comorbidities (n = 17) were evaluated separately. Of the former 76% had sensory neuropathy (including selective small fibre sensory neuropathy (SFSN) in 14 patients), 15% had sensorimotor polyneuropathy, and 9% had mononeuritis multiplex. The pattern of distribution was similar in the patients with comorbidities. In 30/54 patients, CN was the first manifestation of cryoglobulinaemia. Patients with mild cryoglobulinaemic syndrome had sensory neuropathy more frequently than patients with active syndrome (p<0.001), in particular SFSN (p<0.001). The latter group had more severe features, with significantly more cases of reduced or absent motor (p = 0.028) and sensory action potentials (p<0.001), and a tendency towards higher Rankin scores (p = 0.06). Conclusions: Sensory neuropathy, often in the form of SFSN, is by far the commonest form of CN. Cryoglobulinaemia should be vigorously investigated in the diagnosis of sensory neuropathy, especially in older women. Activity of the cryoglobulinaemic syndrome is a major factor influencing the clinical expression and severity of CN. PMID:16170087

  6. Mixed or immune complex cryoglobulinaemia and neuropathy

    PubMed Central

    Cream, J. J.; Hern, J. E. C.; Hughes, R. A. C.; Mackenzie, I. C. K.

    1974-01-01

    Three patients with peripheral neuropathy and mixed or immune complex cryoglobulinaemia are reported. The significance of mixed cryoglobulinaemia and the pathogenesis of the peripheral neuropathy are discussed. Images PMID:4360402

  7. Diagnosis, epidemiology and treatment of inflammatory neuropathies.

    PubMed

    Baig, Fahd; Knopp, Michael; Rajabally, Yusuf A

    2012-07-01

    This article reviews the main diagnostic, epidemiological and therapeutic issues relating to the three main inflammatory neuropathies: Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy and multifocal motor neuropathy. The current knowledge base and recent developments are described. PMID:22875431

  8. About Peripheral Neuropathy: Symptoms and Signs

    MedlinePLUS

    ... worst cases, you can end up in a wheelchair. Some neuropathies can be fatal. Peripheral neuropathy symptoms ... drop in blood pressure and, consequently, dizziness when standing up; intestinal difficulties such as constipation or diarrhea; ...

  9. Update on medication-induced peripheral neuropathy

    Microsoft Academic Search

    Louis H. Weimer; Noor Sachdev

    2009-01-01

    Despite improvements in the identification of causes of peripheral neuropathy, idiopathic polyneuropathy remains common. Medication\\u000a and toxic neuropathy account for a small but important percentage of potentially preventable or reversible causes of neuropathy.\\u000a New drugs that can induce neuropathy have been approved over the past several years, including the anticancer agents bortezomib,\\u000a ixabepilone, and oxaliplatin. We review the neurotoxic effects

  10. Diagnosis and new treatments in genetic neuropathies

    Microsoft Academic Search

    M M Reilly; M E Shy

    2009-01-01

    The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot–Marie–Tooth disease (CMT), the hereditary sensory and autonomic neuropathies and the distal hereditary motor neuropathies. More than 30 causative genes have been described, making an accurate genetic diagnosis increasingly possible. Although no specific therapies are yet available, research into their pathogenesis

  11. Co-doped TiO{sub 2} films grown on glass: Room-temperature ferromagnetism accompanied with anomalous Hall effect and magneto-optical effect

    SciTech Connect

    Yamasaki, T.; Yamada, Y.; Nakano, M. [Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Fukumura, T. [Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); PRESTO, Japan Science and Technology Agency, Saitama 332-0012 (Japan); Ueno, K.; Makino, T. [WPI Advanced Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Kawasaki, M. [WPI Advanced Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); Institute for Materials Research, Tohoku University, Sendai 980-8577 (Japan); CREST, Japan Science and Technology Agency, Tokyo 102-0075 (Japan)

    2009-03-09

    Room-temperature ferromagnetic oxide semiconductor Co-doped TiO{sub 2} films are grown on glass substrates by sputtering method. Conducting films are ferromagnetic at room temperature that is consistent with the carrier-mediated nature of the ferromagnetism. Nearly full-polarized magnetization, large magneto-optical effect, and anomalous Hall effect are observed at room temperature. The magneto-optical effect shows nearly fourfold enhancement in a one-dimensional magnetophotonic crystal structure with a standard dielectric multilayer (SiO{sub 2}/TiO{sub 2})

  12. Inflammatory autoimmune neuropathy, presumably induced by bortezomib, in a patient suffering from multiple myeloma.

    PubMed

    Schmitt, Stefan; Goldschmidt, H; Storch-Hagenlocher, B; Pham, M; Fingerle-Rowson, G; Ho, A D; Neben, K

    2011-06-01

    Bortezomib is a proteasome inhibitor demonstrating substantial activity in multiple myeloma. One of its key toxicities is peripheral neuropathy, which is reversible in most patients. The possibility that bortezomib might in rare cases induce severe neuropathies by auto-inflammatory mechanisms remains controversial. We report here the case of a 65-year-old female myeloma patient who was initially treated with bortezomib, doxorubicin, and dexamethasone (PAD). At the end of the second cycle of PAD, the patient presented with a rapid and severe onset of paresis of the left arm, accompanied by progressive sensory neuropathy and increasing neuropathic pain. After an extensive neurological work-up, including electrophysiological and laboratory evaluations as well as magnet resonance tomography imaging, we diagnosed an inflammatory autoimmune neuropathy, presumably induced by bortezomib, with accentuation of the left arm nerve plexus. We subsequently initiated regular treatment with polyvalent immunoglobulins, which gradually improved the neurological symptoms. In conclusion, the identification of an inflammatory autoimmune neuropathy, presumably associated with bortezomib, is a rare but important complication. An extensive neurological examination should be performed in patients who develop severe or unusual sensory or motor deficits under therapy with bortezomib, so as to differentiate autoimmune from toxic neuropathies, as therapeutic strategies differ for each. PMID:21553020

  13. Electrophysiological studies in diabetic neuropathy

    PubMed Central

    Lamontagne, Albert; Buchthal, Fritz

    1970-01-01

    In 30 patients with diabetic neuropathy sensory potentials in the median nerve, motor conduction in the lateral popliteal and median nerves, and electromyographic findings in distal and proximal muscles were compared with the severity of symptoms and signs. All patients had abnormalities in at least one of the electrophysiological parameters. The sensory potentials were the most sensitive indicator of subclinical involvement; abnormalities were found in 24 patients, 12 of whom had no sensory symptoms or signs and five of whom had no other clinical or electrophysiological evidence of neuropathy in the upper extremities. This indicates that sensory nerve fibres may be affected before motor. The next most sensitive parameter was the presence of fibrillation potentials, found in more than half the distal muscles examined. Slowing in motor conduction in the lateral popliteal nerve was the only electrophysiological change correlated to the severity of the neuropathy, and no other electrophysiological parameter was correlated to the duration or the severity of the neuropathy or the diabetes. An onset of neuropathy before or simultaneously with the manifestations of the diabetes, as well as the frequent occurrence of asymptomatic changes in sensory conduction, support the evidence at hand that the neuropathy develops concomitantly with and as an integral part of the metabolic disturbance rather than as a consequence of the vascular complications of diabetes. Of three patients with clinical signs or symptoms of a diabetic amyotrophy, two had asymptomatic electrophysiological abnormalities in distal nerves and muscles, consistent with widespread involvement of the peripheral nerves. The third patient had electromyographic changes in the medial vastus muscles suggestive of a myopathy. Motor and sensory conduction in distal and proximal nerves were normal. Images PMID:5505671

  14. [Metabolic neuropathies: overview in 2011].

    PubMed

    Franques, J; Verschueren, A

    2012-12-01

    Metabolic diseases constitute a frequent etiologic group of axonal and small-fiber neuropathies. Recent works in this field are dominated by diabetic neuropathy (clinical presentation, prognostic factors) because of its prevalence. Vitamin B12 deficiency aroused several studies in 2011. This renewed interest for this well known entity ensues from the lack of sensibility of its biological markers underestimating its prevalence, its clinical spectrum and therefore, access to its therapy. Finally, 2011 highlighted the growing interest of the measure of the intra-epidermic nerve fibers density by skin biopsy for some metabolic disorders such as infra-clinical hypothyroďdism, chronic renal failure or Fabry disease. PMID:23107883

  15. Spectrum of peripheral neuropathy in eastern India.

    PubMed

    Ghosh, Bhaskar; Sengupta, Sarbani; Bhattacharjee, Rahul; Pal, Sandip; Saha, Sankar P; Ganguly, Gautam; Ganguly, Prasanta K; Das, Shyamal K; Roy, Trishit

    2006-04-01

    Peripheral neuropathies constitute an important group of disorders in neurological practice. Very few systematic studies on peripheral neuropathies are available from India. Hence we conducted a prospective study in two large hospitals from Kolkata, the biggest city of eastern India in order to find out the spectrum of peripheral neuropathy. This prospective study was carried out from June 1998 to January 2003 on admitted patients with symptoms and signs of peripheral neuropathy. Two hundred and twenty-five patients were evaluated (one hundred and twenty-five from an industrial hospital and one hundred from an academic tertiary care institution at Kolkata). Result showed that most of the cases of peripheral neuropathy belonged to fourth decade with men dominance. Common varieties of neuropathy were Guillain-Barré syndrome, diabetes mellitus, hereditary motor sensory neuropathy, chronic inflammatory demyelinating neuropathy, drugs and toxin related. Unusual varieties were Isaacs's syndrome and X-linked hereditary motor-sensory neuropathy. One case of neuropathy due to Plasmodium vivax has received intravenous immunoglobulin therapy. The type of peripheral neuropathy in hospital-based patients in eastern India was similar to other parts of country excepting some sporadic types due to infective or genetic causes and a large number of cases of undetermined aetiology exist despite detailed investigations. PMID:16910321

  16. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

    PubMed

    Ji, Yanli; Zhang, A-Mei; Jia, Xiaoyun; Zhang, Ya-Ping; Xiao, Xueshan; Li, Shiqiang; Guo, Xiangming; Bandelt, Hans-Jürgen; Zhang, Qingjiong; Yao, Yong-Gang

    2008-12-01

    Leber hereditary optic neuropathy (LHON) is the most extensively studied mitochondrial disease, with the majority of the cases being caused by one of three primary mitochondrial DNA (mtDNA) mutations. Incomplete disease penetrance and gender bias are two features of LHON and indicate involvement of additional genetic or environmental factors in the pathogenesis of the disorder. Haplogroups J, K, and H have been shown to influence the clinical expression of LHON in subjects harboring primary mutations in European families. However, whether mtDNA haplogroups would affect the penetrance of LHON in East Asian families has not been evaluated yet. By studying the penetrance of LHON in 1859 individuals from 182 Chinese families (including one from Cambodia) with the m.11778G-->A mutation, we found that haplogroup M7b1'2 significantly increases the risk of visual loss, whereas M8a has a protective effect. Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. Protein secondary-structure prediction for the MT-ATP6 with the two M8a-specific amino acid changes further supported our inferences. These findings will assist in further understanding the pathogenesis of LHON and guide future genetic counseling in East Asian patients with m.11778G-->A. PMID:19026397

  17. Neuromyotonia in hereditary motor neuropathy

    Microsoft Academic Search

    A F Hahn; A W Parkes; C F Bolton; S A Stewart

    1991-01-01

    Two siblings with a distal motor neuropathy experienced cramping and difficulty in relaxing their muscles after voluntary contraction. Electromyographic recordings at rest revealed repetitive high voltage spontaneous electrical discharges that were accentuated after voluntary contraction and during ischaemia. Regional neuromuscular blockage with curare indicated hyperexcitability of peripheral nerve fibres and nerve block suggested that the ectopic activity originated in proximal

  18. Peripheral Neuropathy Following Chloroquine Therapy

    PubMed Central

    Loftus, Lawrence R.

    1963-01-01

    Four patients were observed who developed similar episodes of peripheral neuropathy following prolonged treatment with chloroquine phosphate. This previously unreported toxic reaction consisted of bilateral loss of knee and ankle reflexes and weakness of the quadriceps muscles. Gradual return to normal followed withdrawal of the chloroquine. Other toxic reactions to the drug are reviewed. PMID:14052974

  19. Non-Systemic Vasculitic Neuropathy: An Enigmatic Clinical Entity.

    PubMed

    Singh Lubana, Sandeep; Singh, Navdeep; Sanelli-Russo, Susan; Abrudescu, Adriana

    2015-01-01

    BACKGROUND Non-systemic vasculitic peripheral neuropathy is a rare condition characterized by necrotizing inflammation resulting in luminal narrowing of the vasa nervorum, leading to ischemic injury to peripheral nerves. Here, we present the case of 63-year-old woman with subacute onset of severe hyperesthesia of the lower extremities accompanied by foot drop. CASE REPORT A 63-year-old woman with prolonged history of uncontrolled diabetes mellitus presented with subacute onset of severe bilateral lower extremity hyperesthesia and motor weakness along with left-sided foot drop. She had multiple emergency room visits with no relief of her symptoms. High doses of analgesics were insufficient to control pain. Laboratory tests were positive only for high erythrocyte sedimentation rate and C-reactive protein. A skin biopsy obtained 5 cm above the left lateral malleolus revealed medium-sized dermal vasculitis with dense mononuclear infiltrate. Electromyography showed peripheral neuropathy. A nerve biopsy was needed to reveal the exact diagnosis. CONCLUSIONS Diagnosis of non-systemic vasculitic peripheral neuropathy can be delayed or missed in patients with uncontrolled diabetes mellitus, leading to significant morbidity. Elevated markers of inflammation in the absence of a possible explanation should prompt the clinician to perform a nerve biopsy; however, it is an invasive procedure and is associated with complications of post-neuropathic pain and delayed wound healing. Magnetic resonance angiography of the lower limbs, if combined with skin biopsy, can save the patient from undergoing nerve biopsy. PMID:26167722

  20. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].

    PubMed

    Takashima, Hiroshi

    2014-01-01

    Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN. PMID:25672680

  1. Early onset (childhood) monogenic neuropathies.

    PubMed

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent <10% of HN but exhibit large clinical and genetic heterogeneity. Sensory/dysautonomic HN involves five classic subtypes, each one related to specific genes. However, genetic heterogeneity is larger than initially suspected. Syndromic HN distinguish "purely neurological syndromes", which are multisystemic, such as spinocerebellar atrophies +, spastic paraplegias +, etc. Peripheral neuropathy is possibly the presenting feature, including in childhood. Autosomal recessive forms, on average, start more frequently in childhood. "Multiorgan syndromes", on the other hand, are more specific to Pediatrics. AR forms, which are clearly degenerative, prompt the investigation of a large set of pleiotropic genes. Other syndromes expressed in the perinatal period are mainly developmental disorders, and can sometimes be related to specific transcription factors. Systematic malformative workup and ethical considerations are necessary. Altogether, >40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission. PMID:23931819

  2. Nonsystemic vasculitic neuropathy: update on diagnosis, classification, pathogenesis, and treatment.

    PubMed

    Collins, Michael P; Periquet-Collins, Isabel

    2009-01-01

    The primary systemic vasculitides are autoimmune disorders characterized by chronic immune responses directed against vascular structures. They commonly affect small or medium-sized vessels in the peripheral nervous system (PNS), producing vasculitic neuropathies. Some patients develop vasculitis clinically restricted to the PNS, known as nonsystemic vasculitic neuropathy (NSVN), the most commonly encountered vasculitic neuropathy in pathologically based series. Diabetic and nondiabetic radiculoplexus neuropathies are clinical variants of NSVN. NSVN is clinically similar to systemic vasculitis-associated neuropathies except for reduced severity. Patients most commonly present with progressive, stepwise pain, weakness, and numbness over multiple months. Almost all exhibit a multifocal or asymmetric, distally accentuated pattern of involvement. The most commonly affected nerves are the common peroneal nerve in the leg and the ulnar nerve in the arm. Sedimentation rate is mildly to moderately elevated in 50%; other markers of systemic inflammation are generally normal. Electrodiagnostic studies reveal a predominantly axonal, asymmetric, sensorimotor polyneuropathy, but pseudo-conduction blocks may occur. Definite diagnosis requires biopsy evidence of vascular inflammation and signs of active or remote vascular damage. In biopsies lacking definite vasculitis, the diagnosis is suspected if axonal alterations are accompanied by perivascular inflammation and such supportive features as Wallerian-like degeneration, asymmetric fiber loss, hemosiderin, vascular immune deposits, neovascularization, myofiber necrosis/regeneration, focal perineurial damage, and endoneurial purpura. NSVN preferentially affects larger epineurial arterioles. Epineurial infiltrates are composed primarily of T cells and macrophages, suggesting that cellular cytotoxicity is the primary effector mechanism. Systemic vasculitides with progressive neuropathy are usually treated with cyclophosphamide and prednisone. No randomized controlled trial of therapy has been performed in NSVN, but data from retrospective cohorts suggest that combination therapy is more effective than steroid monotherapy. Once remission has been induced, cyclophosphamide should be replaced with azathioprine or methotrexate. Refractory patients can be treated with intravenous immunoglobulin, mycophenolate, rituximab, infliximab, or alemtuzumab. Although long-term outcome is reasonably good, more than one third of patients relapse, infrequent patients die from the disease or its treatment, and still others develop chronic pain. PMID:19349704

  3. Alcoholism, peripheral neuropathy (PNP) and cardiovascular autonomic neuropathy (CAN).

    PubMed

    Agelink, M W; Malessa, R; Weisser, U; Lemmer, W; Zeit, T; Majewski, T; Klieser, E

    1998-12-11

    In contrast to diabetic autonomic neuropathy, cardiovascular autonomic neuropathy (CAN) in long-term alcoholics has been studied rarely. Using both standardized bedside tests and computer-assisted analysis of heart rate variability (HRV), we prospectively compared autonomic neurocardial function between 35 strictly selected, detoxified alcoholics (DSM-III-R), and 80 well matched healthy controls. Evidence for a potential CAN was found in 25.7% of all the alcoholics studied and in 41% of those with clinically manifest PNP (n=22). Overall, our results demonstrated a significant association between the presence of a CAN and peripheral neuropathy (PNP) amongst chronic alcoholics (chi-square test P<0.05); there was no evidence of a CAN in any of the alcoholics without a clinically manifest PNP. The CAN was characterized by a dissociated appearance of parasympathetic and sympathetic disorders. Our findings provide reason to suspect that the total lifetime dose of alcohol and the duration of alcohol dependence are the most important factors contributing to the pathogenesis of both PNP and sympathetic dysfunction. As is the case with diabetics, computer-assisted measurements of HRV including spectral analysis appear to be far superior to conventional bedside tests for detecting evidence of cardiovagal dysfunction in long-term alcoholics. PMID:9879694

  4. Not all neuropathy in diabetes is of diabetic etiology: Differential diagnosis of diabetic neuropathy

    Microsoft Academic Search

    Roy Freeman

    2009-01-01

    Diabetic peripheral neuropathy is the most common peripheral neuropathy in the developed world; however, not all patients\\u000a with diabetes and peripheral nerve disease have a peripheral neuropathy caused by diabetes. Several (although not all) studies\\u000a have drawn attention to the presence of other potential causes of a neuropathy in individuals with diabetes; 10% to 50% of\\u000a individuals with diabetes may

  5. Genetics Home Reference: Autosomal recessive axonal neuropathy with neuromyotonia

    MedlinePLUS

    ... OMIM Genetic disorder catalog Conditions > Autosomal recessive axonal neuropathy with neuromyotonia On this page: Description Genetic changes ... Reviewed September 2014 What is autosomal recessive axonal neuropathy with neuromyotonia? Autosomal recessive axonal neuropathy with neuromyotonia ...

  6. Genetics Home Reference: Distal hereditary motor neuropathy, type V

    MedlinePLUS

    ... OMIM Genetic disorder catalog Conditions > Distal hereditary motor neuropathy, type V On this page: Description Genetic changes ... Reviewed August 2009 What is distal hereditary motor neuropathy, type V? Distal hereditary motor neuropathy, type V ...

  7. Genetics Home Reference: Hereditary sensory neuropathy type IA

    MedlinePLUS

    ... literature OMIM Genetic disorder catalog Conditions > Hereditary sensory neuropathy type IA On this page: Description Genetic changes ... definitions Reviewed March 2015 What is hereditary sensory neuropathy type IA? Hereditary sensory neuropathy type IA is ...

  8. Genetics Home Reference: Distal hereditary motor neuropathy, type II

    MedlinePLUS

    ... OMIM Genetic disorder catalog Conditions > Distal hereditary motor neuropathy, type II On this page: Description Genetic changes ... Reviewed August 2009 What is distal hereditary motor neuropathy, type II? Distal hereditary motor neuropathy, type II ...

  9. Genetics Home Reference: Hereditary neuropathy with liability to pressure palsies

    MedlinePLUS

    ... Recent literature OMIM Genetic disorder catalog Conditions > Hereditary neuropathy with liability to pressure palsies On this page: ... Glossary definitions Reviewed April 2007 What is hereditary neuropathy with liability to pressure palsies? Hereditary neuropathy with ...

  10. AIDS and AIDS-treatment neuropathies

    Microsoft Academic Search

    Derek Williams; Anthony Geraci; David M. Simpson

    2002-01-01

    AIDS and AIDS-treatment neuropathies are common in individuals infected with HIV. As patients live longer due to improved\\u000a antiretroviral therapies, the impact of painful neuropathy on patients’ lives may increase. Several antiretroviral medications\\u000a are known to cause toxic neuropathy in patients with AIDS, but this may be outweighed by the beneficial effects of viral suppression.\\u000a Current theories on the pathogenesis

  11. Pathogenesis of Human Diabetic Neuropathy

    Microsoft Academic Search

    Rayaz Ahmed Malik; Aristides Veves

    Experimental studies have provided multiple mechanisms for the development of diabetic neuropathy, yet very few findings have\\u000a been replicated in patients. Hyperglycemia mediated nerve damage may begin very early even prior to overt diabetes as evidenced\\u000a by several recent studies in patients with impaired glucose tolerance. Polyol pathway abnormalities have been exhaustively\\u000a explored in animals, but studies in man are

  12. Treatment of Painful Diabetic Neuropathy

    Microsoft Academic Search

    Andrew J. M. Boulton

    Up to 50% of patients with chronic sensorimotor diabetic neuropathy will experience painful or uncomfortable symptoms, and\\u000a of these a significant minority may require pharmacological therapy. As painful symptomatology may be worsened by a sudden\\u000a change in glycaemic control, the first step in management should be the quest for stable, near normal glycaemic control avoiding\\u000a glycaemic flux. Of all the

  13. FoxP3+ Regulatory T Cells Determine Disease Severity in Rodent Models of Inflammatory Neuropathies

    PubMed Central

    Meyer zu Hörste, Gerd; Cordes, Steffen; Mausberg, Anne K.; Zozulya, Alla L.; Wessig, Carsten; Sparwasser, Tim; Mathys, Christian; Wiendl, Heinz; Hartung, Hans-Peter; Kieseier, Bernd C.

    2014-01-01

    Inflammatory neuropathies represent disabling human autoimmune disorders with considerable disease variability. Animal models provide insights into defined aspects of their disease pathogenesis. Forkhead box P3 (FoxP3)+ regulatory T lymphocytes (Treg) are anti-inflammatory cells that maintain immune tolerance and counteract tissue damage in a variety of immune-mediated disorders. Dysfunction or a reduced frequency of Tregs have been associated with different human autoimmune disorders. We here analyzed the functional relevance of Tregs in determining disease manifestation and severity in murine models of autoimmune neuropathies. We took advantage of the DEREG mouse system allowing depletion of Treg with high specificity as well as anti-CD25 directed antibodies to deplete Tregs in mice in actively induced experimental autoimmune neuritis (EAN). Furthermore antibody-depletion was performed in an adoptive transfer model of chronic neuritis. Early Treg depletion increased clinical EAN severity both in active and adoptive transfer chronic neuritis. This was accompanied by increased proliferation of myelin specific T cells and histological signs of peripheral nerve inflammation. Late stage Treg depletion after initial disease manifestation however did not exacerbate inflammatory neuropathy symptoms further. We conclude that Tregs determine disease severity in experimental autoimmune neuropathies during the initial priming phase, but have no major disease modifying function after disease manifestation. Potential future therapeutic approaches targeting Tregs should thus be performed early in inflammatory neuropathies. PMID:25286182

  14. Acute sensory neuropathy in an adolescent girl following BCG vaccination

    Microsoft Academic Search

    Elaine Hughes; Richard A. C. Hughes

    1999-01-01

    A 13-year-old girl developed a sensory neuropathy following bacille Calmette-Guérin (BCG) vaccination, consistent with acute inflammatory demyelinating polyradiculoneuropathy or acute sensory axonal neuropathy.

  15. IgM ganglioside GM1 antibodies in patients with autoimmune disease or neuropathy, and controls.

    PubMed Central

    Bansal, A S; Abdul-Karim, B; Malik, R A; Goulding, P; Pumphrey, R S; Boulton, A J; Holt, P L; Wilson, P B

    1994-01-01

    AIMS--To compare the titre of anti-ganglioside antibodies (AGA) to GM1 ganglioside in patients with central and peripheral neurological disease and pure motor and sensorimotor neuropathy, in patients with classic autoimmune diseases, and controls. METHODS--AGA to GM1 were measured using an enzyme linked immunosorbent assay (ELISA) technique, highly purified bovine GM1 ganglioside, and sequential dilution of control and test sera. Antibody titre was calculated using the optical density readings of three consecutive serum dilutions multiplied by the dilution factor. RESULTS--A considerable overlap was evident in the titre of AGA to GM1 in control and test sera. High antibody titres were most frequent in patients with multifocal motor neuropathy with conduction block (MMNCB). Low AGA titre were observed in several patient groups. Compared with the controls, the median titre of AGA to GM1 was significantly higher in patients with multiple sclerosis, rheumatoid arthritis, primary Sjögren's syndrome and systemic lupus erythematosus. In contrast, the median titre in patients with diabetic peripheral neuropathy, motor neurone disease, sensorimotor neuropathy and chronic inflammatory demyelinating polyneuropathy was no different from that in normal control subjects. CONCLUSIONS--Estimation of AGA to GM1 may be helpful in the diagnosis of MMNCB in patients with a pure motor neuropathy but in few other conditions. Low titre AGA to GM1 are evident in several autoimmune conditions. The pathogenetic importance of AGA to GM1 in patients with neuropathy is not clear. PMID:8027366

  16. Diagnosis and treatment in inflammatory neuropathies

    Microsoft Academic Search

    M P T Lunn; H J Willison

    2009-01-01

    The inflammatory neuropathies are a large diverse group of immune-mediated neuropathies that are amenable to treatment and may be reversible. Their accurate diagnosis is essential for informing the patient of the likely course and prognosis of the disease, informing the treating physician of the appropriate therapy and informing the scientific community of the results of well-targeted, designed and performed clinical

  17. Peripheral Neuropathy – Clinical and Electrophysiological Considerations

    PubMed Central

    Chung, Tae; Prasad, Kalpana; Lloyd, Thomas E.

    2013-01-01

    This article is a primer on the pathophysiology and clinical evaluation of peripheral neuropathy for the radiologist. Magnetic resonance neurography (MRN) has utility in the diagnosis of many focal peripheral nerve lesions. When combined with history, examination, electrophysiology, and laboratory data, future advancements in high-field MRN may play an increasingly important role in the evaluation of patients with peripheral neuropathy. PMID:24210312

  18. Motor and sensory nerve conduction velocity in the baboon: normal values and changes during acrylamide neuropathy

    Microsoft Academic Search

    A. P. Hopkins; R. W. Gilliatt

    1971-01-01

    Nerve conduction velocity and the amplitude of nerve and muscle action potentials have been measured in the median and anterior tibial nerves of normal adult and infant baboons. The effect of altered temperature on velocity has also been investigated. Seven adult baboons were intoxicated with acrylamide. In animals given 10-15 mg\\/kg\\/day, the gradual development of a peripheral neuropathy was accompanied

  19. [Axonal involvement in dysimmune neuropathies].

    PubMed

    Vallat, J-M

    2007-09-01

    Dysimmune neuropathies, in common with other neuropathies, comprise an axonal impairment that it is primary or secondary to a demyelinating process. We consider here axonal impairment in the course of certain dysimmune neuropathies, such as the Guillain Barré syndrome, chronic inflammatory demyelinating polyradiculoneuritis and multiple conduction block neuropathy. We mention the fact that it is not always easy to evidence the axonal impairment, its severity and its potential for regeneration. The mechanisms of the axonal lesions stem essentially from the special and tight bonds between the axon and the Schwann cell, which in the central central nervous system are mirrored by the bonds between axons and oligodendrocytes. Indeed, myelinating Schwann cells modify the properties of the axon in the normal peripheral nervous system, and abnormal Schwann cells induce pathological modifications. The periods of appearance of the axonal impairment are nevertheless quite variable depending on the type of the dysimmune neuropathy: acute or chronic. Some Guillain-Barré syndromes may be distinguished by a severe axonal impairment, now well documented and referred to as AMSAN and AMAN. Various mechanisms of axonal impairment are discussed. The bond between axon and myelin means that any pathological process in Schwann cells leads to axonal impairment, with inflammatory processes having a direct impact on the axon: mechanism of typical 'by-stander effect', repressive role of endoneurial edema, direct dysimmune attack on axonal epitopes on the corresponding axolemma, especially on the GM1 gangliosides, intra-axonal accumulation of sodium and calcium due to disruption the voltage-dependent sodium/potassium ion channels, slow retrograde progression to anterior horn neurons and possibly also to posterior spinal cords. The treatment of the axonal impairment is not straightforward; it is based, in a first instance, on the direct relation between the severity of the demyelinating lesions and the axonal impairment. For the acute forms of typical Guillain-Barré syndrome, the value of plasma exchanges and intravenous immunoglobulins has demonstrated in double blind, randomized trials. For the chronic demyelinating inflammatory polyradiculoneuritis, corticotherapy, along with plasma exchange and the immunoglobulins, have also been shown to be effective. Immunosuppressor treatment has benefits, but it is hard to prove objectively. It is generally recognized that it is only useful if applied for a period of weeks, although this is currently a matter of debate. Other therapeutic options have been discussed and proposed, although to date there is a lack of proven efficiency: such treatments include neuroprotective agents and drugs which block sodium/potassium ion channels. It is increasingly difficult to propose new treatments with validated efficiency, due to the small number of patients presenting dysimmune neuropathies of the type discussed here that are both typical and suitable for inclusion in medium to long term studies. PMID:18087224

  20. The distal hereditary motor neuropathies.

    PubMed

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data. PMID:22028385

  1. Giant axonal neuropathy: MRS findings.

    PubMed

    Alkan, Alpay; Kutlu, Ramazan; Sigirci, Ahmet; Baysal, Tamer; Altinok, Tayfun; Yakinci, Cengiz

    2003-10-01

    Giant axonal neuropathy (GAN) is a rare genetic disease of childhood involving the central and peripheral nervous systems. Axonal loss with several giant axons filled with neurofilaments is the main histopathological feature of peripheral nerve biopsies in this disease. Routine neuroimaging studies reveal diffuse hyperintensities in cerebral and cerebellar white matter. In this case report, the authors present the brain magnetic resonance spectroscopic features (normal N-acetylaspartate/creatine and increased choline/creatine and myoinositol/creatine ratios), which might indicate the absence of neuroaxonal loss and the presence of significant demyelination and glial proliferation in white matter, of an 11-year-old boy diagnosed with GAN. PMID:14569833

  2. Toxic Neuropathy as a Complication of Thiophenicol Therapy

    Microsoft Academic Search

    Yukito Shinohara; Fumie Yamaguchi; Fumio Gotoh

    1977-01-01

    Two cases with sensory neuropathy due to thiophenicol therapy are reported. Thiophenicol neuropathy is hitherto unreported in literature published in English. Neurological manifestations of these cases were similar to those of chloramphenicol neuropathy, but rather marked impairment of position sense in the lower extremities was characteristic. Thiophenicol neuropathy reported in Japanese literature was reviewed and it is concluded that thiophenicol

  3. Recessively transmitted predominantly motor neuropathies.

    PubMed

    Parman, Ye?im; Battalo?lu, Esra

    2013-01-01

    Recessively transmitted predominantly motor neuropathies are rare and show a severe phenotype. They are frequently observed in populations with a high rate of consanguineous marriages. At least 15 genes and six loci have been found to be associated with autosomal recessive CMT (AR-CMT) and X-linked CMT (AR-CMTX) and also distal hereditary motor neuronopathy (AR-dHMN). These disorders are genetically heterogeneous but the clinical phenotype is relatively homogeneous. Distal muscle weakness and atrophy predominating in the lower extremities, diminished or absent deep tendon reflexes, distal sensory loss, and pes cavus are the main clinical features of this disorder with occasional cranial nerve involvement. Although genetic diagnosis of some of subtypes of AR-CMT are now available, rapid advances in the molecular genetics and cell biology show a great complexity. Animal models for the most common subtypes of human AR-CMT disease provide clues for understanding the pathogenesis of CMT and also help to reveal possible treatment strategies of inherited neuropathies. This chapter highlights the clinical features and the recent genetic and biological findings in these disorders based on the current classification. PMID:23931818

  4. Congenital Cataracts – Facial Dysmorphism – Neuropathy

    PubMed Central

    Kalaydjieva, Luba

    2006-01-01

    Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, mild facial dysmorphism and hypogonadism. Para-infectious rhabdomyolysis is a serious complication reported in an increasing number of patients. During general anaesthesia, patients with CCFDN require careful monitoring as they have an elevated risk of complications. CCFDN is a genetically homogeneous condition in which all patients are homozygous for the same ancestral mutation in the CTDP1 gene. Diagnosis is clinical and is supported by electrophysiological and brain imaging studies. The major differential diagnosis is Marinesco-Sjögren syndrome. The definitive diagnosis is molecular, based on homozygosity for the CTDP1 mutation. CTDP1 maps to 18qter and encodes a protein phosphatase whose only known substrate is the phosphorylated serine residues of the carboxy-terminal domain of the largest subunit of RNA polymerase II, indicating that CCFDN affects basic cellular processes of gene expression and developmental regulation. Families benefit from genetic counselling and predictive testing. Management includes surgical treatment of the cataracts, and rehabilitation and corrective orthopaedic surgery for the peripheral neuropathy. Thus, the most disabling manifestations, though not curable, are manageable, and allow an acceptable quality of life and everyday living. Current data indicate that patients survive well into adulthood. PMID:16939648

  5. Chronic dysimmune neuropathies: Beyond chronic demyelinating polyradiculoneuropathy

    PubMed Central

    Khadilkar, Satish V.; Deshmukh, Shrikant S.; Dhonde, Pramod D.

    2011-01-01

    The spectrum of chronic dysimmune neuropathies has widened well beyond chronic demyelinating polyradiculoneuropathy (CIDP). Pure motor (multifocal motor neuropathy), sensorimotor with asymmetrical involvement (multifocal acquired demylinating sensory and motor neuropathy), exclusively distal sensory (distal acquired demyelinating sensory neuropathy) and very proximal sensory (chronic immune sensory polyradiculopathy) constitute the variants of CIDP. Correct diagnosis of these entities is of importance in terms of initiation of appropriate therapy as well as prognostication of these patients. The rates of detection of immune-mediated neuropathies with monoclonal cell proliferation (monoclonal gammopathy of unknown significance, multiple myeloma, etc.) have been facilitated as better diagnostic tools such as serum immunofixation electrophoresis are being used more often. Immune neuropathies associated with malignancies and systemic vasculitic disorders are being defined further and treated early with better understanding of the disease processes. As this field of dysimmune neuropathies will evolve in the future, some of the curious aspects of the clinical presentations and response patterns to different immunosuppressants or immunomodulators will be further elucidated. This review also discusses representative case studies. PMID:21808468

  6. Studies on the pathogenesis of vincristine-induced neuropathy.

    PubMed

    Sahenk, Z; Brady, S T; Mendell, J R

    1987-01-01

    The pathogenesis of the peripheral neuropathy induced by vincristine is poorly understood, but interference of vinca alkaloids with microtubule assembly suggests that microtubule changes could be important. This possibility was studied by directly exposing the rat sciatic nerve to graded concentrations of vincristine sulfate. Microtubule length histograms prepared from randomly selected axons showed a unimodal distribution in vincristine and control axons. In vincristine-exposed axons, however, there was a shift to shorter length microtubules, and the mean measured length of microtubules (0.42 +/- 0.37 micron) was significantly (P less than 0.001) shorter than controls (0.67 +/- 0.55 micron). On cross-sections, the vincristine-exposed axons showed a decrease in the number of microtubules per square micrometer of axonal area compared to controls. These findings fit best with a loss of portion(s) of each microtubule and support the possibility that microtubules changes were associated with malorientation of microtubules and neurofilaments, accompanied by free vesicle accumulation and fragmentation of the smooth endoplasmic reticulum. These structural alterations would account for the previously observed abnormalities in axoplasmic transport and would also provide insight into the commonly observed peripheral neuropathy induced by vincristine treatment. PMID:3031498

  7. The Charcot foot as a complication of diabetic neuropathy.

    PubMed

    Mascarenhas, Janice V; Jude, Edward B

    2014-12-01

    Diabetes mellitus is a leading global metabolic disorder accompanied by the overwhelming burden of its associated complications. Hyperglycaemia-induced endothelial damage or endothelial dysfunction serves as the primary instigator for the development of microvascular disease. Diabetic neuropathy represents the majority of microvascular sequelae and is the renowned perpetrator of a variety of foot complications, namely the Charcot foot (CF). CF is a debilitating medical emergency which is often mismanaged either due to a delayed diagnosis or lack of clinical expertise in the management of CF. Often, misdiagnosis during the acute stages of CF leads to irreversible and persistent joint destruction which may be refractory to medical or surgical treatment. Timely intervention with offloading measures is crucial during acute CF in ceasing active bone resorption. Current anti-resorptive agents may be considered as adjunctive therapy in combination with offloading. Novel agents are underway that will enable bone formation and suppress bone resorption. PMID:25354828

  8. Congenital ring constrictions with entrapment neuropathies

    Microsoft Academic Search

    N Marlow; J Jarratt; G Hosking

    1981-01-01

    An eight year old boy with multiple simple congenital ring constrictions is described with peripheral nerve palsies caused by entrapment in the constrictions. It is suggested that ring constrictions should be considered in the differential diagnosis of entrapment neuropathy.

  9. [Herpes zoster-induced neuralgia (neuropathy)].

    PubMed

    Maksimova, M Yu; Sineva, N A; Vodopyanov, N P

    2014-01-01

    Neuralgia (neuropathy) is the most common manifestation of herpes zoster (HZ). In spinal and cranial neuralgia, there are 3 types of pain: 1) spontaneous, persistent, burning pain; 2) intermittent sharp pain; 3) pain occurring with nonpainful stimulation. The skin exhibits areas of hypesthesia, anesthesia, and dysesthesia. Ophthalmic neuralgia (of the first branch of the trigeminal nerve) is encountered in 20% of HZ cases. HZ of the auricle and external auditory meatus concurrent with facial and vestibulocochlear neuropathy is diagnosed as Ramsay Hunt syndrome. Postherpetic neuralgia (neuropathy) is characterized by pain present for 3 months or more after the appearance of herpetic eruptions. Combined therapy involving the earlier use of antiviral agents, tricyclic antidepressants, analgesics, and neuromidine is the most effective option for HZ-induced neuralgia (neuropathy). PMID:25715496

  10. Diabetic neuropathy: clinical manifestations and current treatments.

    PubMed

    Callaghan, Brian C; Cheng, Hsinlin T; Stables, Catherine L; Smith, Andrea L; Feldman, Eva L

    2012-06-01

    Diabetic peripheral neuropathy is a prevalent, disabling disorder. The most common manifestation is distal symmetrical polyneuropathy (DSP), but many patterns of nerve injury can occur. Currently, the only effective treatments are glucose control and pain management. While glucose control substantially decreases the development of neuropathy in those with type 1 diabetes, the effect is probably much smaller in those with type 2 diabetes. Evidence supports the use of specific anticonvulsants and antidepressants for pain management in patients with diabetic peripheral neuropathy. However, the lack of disease-modifying therapies for diabetic DSP makes the identification of new modifiable risk factors essential. Growing evidence supports an association between components of the metabolic syndrome, including prediabetes, and neuropathy. Studies are needed to further explore this association, which has implications for the development of new treatments for this common disorder. PMID:22608666

  11. INHERITED NEUROPATHIES: CLINICAL OVERVIEW AND UPDATE

    PubMed Central

    KLEIN, CHRISTOPHER J.; DUAN, XIAOHUI; SHY, MICHAEL E.

    2014-01-01

    Inherited neuropathy is a group of common neurologic disorders with heterogeneous clinical presentations and genetic causes. Detailed neuromuscular evaluations, including nerve conduction studies, laboratory testing, and histopathologic examination, can assist in identification of the inherited component beyond family history. Genetic testing increasingly enables definitive diagnosis of specific inherited neuropathies. Diagnosis, however, is often complex, and neurologic disability may have both genetic and acquired components in individual patients. The decision of which genetic test to order or whether to order genetic tests is often complicated, and the strategies to maximize the value of testing are evolving. Apart from rare inherited metabolic neuropathies, treatment approaches remain largely supportive. We provide a clinical update of the various types of inherited neuropathies, their differential diagnoses, and distinguishing clinical features (where available). A framework is provided for clinical evaluations, including the inheritance assessment, electrophysiologic examinations, and specific genetic tests. PMID:23801417

  12. Genetics Home Reference: Small fiber neuropathy

    MedlinePLUS

    ... disease or Sjogren syndrome, an inflammatory condition called sarcoidosis, and human immunodeficiency virus (HIV) infection. Read more ... palpitations ; peripheral ; peripheral nervous system ; peripheral neuropathy ; prevalence ; sarcoidosis ; sensitivity ; sodium ; sodium channel ; subunit ; syndrome ; virus You ...

  13. Genetics Home Reference: Ataxia neuropathy spectrum

    MedlinePLUS

    ... syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). As the name implies, people with ataxia ... weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs ...

  14. Pattern Recognition Approach to Neuropathy and Neuronopathy

    PubMed Central

    Barohn, Richard J; Amato, Anthony A.

    2014-01-01

    Synopsis Neuropathic disorders encompass those that affect the neuron’s cell body or neuronopathies, those affecting the peripheral process, or peripheral neuropathies. The peripheral neuropathies can be broadly subdivided into the myelinopathies and axonopathies. These conditions can be hereditary or acquired. Each of these disorders has distinct clinical features that enable neurologists to recognize the various patterns of presentation. Once a particular pattern is established, further laboratory studies can be performed to confirm the clinical impression. PMID:23642713

  15. Moisture processes accompanying convective activity 

    E-print Network

    Sienkiewicz, Meta Elizabeth

    1981-01-01

    Moisture Processes Accompanying Convective Activity (December 1981) Meta Elizabeth Sienkiewicz, B. S. , Texas A&M University Chairman of Advisory Committee: Dr, James R. Scoggins A moisture budget analysis was performed on data collected during the AVE... VII (2-3 May 1978) and AVE-SESAME I (10-11 April 1979) experiments. Local rates-of-change of moisture were compared with averaged moisture divergence in the same time period. Results were presented as contoured plots in the horizontal...

  16. Goiter and Laryngeal Sensory Neuropathy

    PubMed Central

    Hamdan, Abdul Latif; Jabour, Jad; Azar, Sami T.

    2013-01-01

    Objective. Examining the prevalence of laryngeal sensory neuropathy (LSN) in goiter patients versus a control group. Study Design. Cross-sectional study. Methods. 33 Goiter patients were enrolled versus 25 age-matched controls. TSH levels, size of thyroid gland, and presence or absence of thyroid nodules were reported. Subjects were asked about the presence or absence of any of the following symptoms: cough, globus pharyngeus, and/or throat clearing that persistented for more than 6 weeks. The presence of one or more of these symptoms for at least six weeks in the absence of LPRD, allergy, asthma, ACE inhibitor intake, and psychogenic disorder was defined as LSN. Results. For goitrous patients mean age (years) was (41.73 ± 9.47) versus (37.44 ± 10.89) for controls. 82% goitrous patients had known nodules and 27% carried a simultaneous diagnosis of hypothyroidism. Among those with documented size (61%), mean total thyroid volume was 26.996 ± 14.852?cm3, with a range from 9.430 to 67.022?cm3. The overall prevalence of LSN among goitrous patients was 42% versus 12% among controls (P = 0.0187). There was no correlation between LSN, size of thyroid gland, and TSH level. Conclusion. The prevalence of LSN in goitrous patients is significantly higher than that in a nongoitrous population. PMID:23818901

  17. Genetics Home Reference: Hereditary sensory and autonomic neuropathy type V

    MedlinePLUS

    ... to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ... gene ; growth factor ; hereditary ; inherited ; joint ; mutation ; neuropathy ; perception ; protein ; receptor ; recessive ; sensory nerve ; sensory neuropathy ; tissue ; ...

  18. PHENYLMETHYLSULFONYL FLUORIDE PROTECTS RATS FROM MIPAFOX-INDUCED DELAYED NEUROPATHY

    EPA Science Inventory

    Initiation of organophosphorus-induced delayed neuropathy (OPIDN) is thought to consist of two molecular events involving the phosphorylation of the target enzyme, neurotoxic esterase or neuropathy target enzyme (NTE), and a subsequent 'aging' reaction which transforms the inhibi...

  19. Abnormal calcium homeostasis in peripheral neuropathies

    PubMed Central

    Fernyhough, Paul; Calcutt, Nigel A.

    2010-01-01

    Abnormal neuronal calcium (Ca2+) homeostasis has been implicated in numerous diseases of the nervous system. The pathogenesis of two increasingly common disorders of the peripheral nervous system, namely neuropathic pain and diabetic polyneuropathy, has been associated with aberrant Ca2+ channel expression and function. Here we review the current state of knowledge regarding the role of Ca2+ dyshomeostasis and associated mitochondrial dysfunction in painful and diabetic neuropathies. The central impact of both alterations of Ca2+ signalling at the plasma membrane and also intracellular Ca2+ handling on sensory neuron function is discussed and related to abnormal endoplasmic reticulum performance. We also present new data highlighting sub-optimal axonal Ca 2+ signalling in diabetic neuropathy and discuss the putative role for this abnormality in the induction of axonal degeneration in peripheral neuropathies. The accumulating evidence implicating Ca2+ dysregulation with both painful and degenerative neuropathies, along with recent advances in understanding of regional variations in Ca2+ channel and pump structures, makes modulation of neuronal Ca2+ handling an increasingly viable approach for therapeutic interventions against the painful and degenerative aspects of many peripheral neuropathies. PMID:20034667

  20. PDE5 inhibitors in diabetic peripheral neuropathy.

    PubMed

    Hackett, G

    2006-09-01

    Peripheral neuropathy is the most common complication of diabetes. This paper reviews the case histories of five patients with diabetic peripheral neuropathy or severe peripheral vascular disease who reported improvement in their symptoms when treated with regular or daily dosing with phosphodiesterase type 5 inhibitors (PDE5Is). These patients had been previously treated with PDE5Is for erectile dysfunction (ED) and not responded to on-demand therapy with a PDE5I at maximal recommended dose. This improvement is likely to be due to the known benefit of these drugs on endothelial dysfunction via an improvement of blood supply to the vasa nervorum. These cases suggest that further research is indicated to evaluate the potential use of PDE5Is in the treatment and prevention of diabetic peripheral neuropathy, particularly as these drugs are already licensed to treat ED, which occurs in around 50% of male diabetics. PMID:16939556

  1. Tactile directional sensibility and diabetic neuropathy.

    PubMed

    Norrsell, U; Eliasson, B; Frizell, M; Wallin, B G; Wesslau, C; Olausson, H

    2001-11-01

    Five different procedures used to diagnose neuropathy were compared in a "blind" study with diabetic patients. The aim was to evaluate tests of tactile directional sensibility. Three matched groups were examined, two groups with type I diabetes, either with or without suspected neuropathy, and one of healthy controls. Testing consisted of: (1) examination by a specialist in neurology, (2) electrophysiologic measurement of nerve conduction velocity and determination of cool sensitivity, and (3) determination of directional sensibility in two stages, with categorical and quantitative techniques. Abnormal test results were obtained for both groups of diabetic patients. Quantitatively measured directional sensibility had the highest sensitivity (89%) and specificity (85%) when calculated for patients who had received a diagnosis of neuropathy from the neurologist, despite one case of abnormal directional sensibility among the healthy controls. Conduction velocity testing was almost comparably sensitive (80%) and cool sensitivity, comparably specific (85%) when calculated in the same manner. PMID:11745952

  2. Diabetic neuropathy in children and adolescents.

    PubMed

    Trotta, Daniela; Verrotti, Alberto; Salladini, Carmela; Chiarelli, Francesco

    2004-03-01

    Diabetic neuropathy (DN) represents a major complication of type 1 diabetes mellitus (T1DM) but there is considerable uncertainty as to its incidence, prevalence, diagnosis and prognosis in pediatric population. Generally, DN is classified as polyneuropathy, focal neuropathy and autonomic neuropathy. The latter seems to be detectable even in asymptomatic children and adolescents with diabetes and is associated with the most serious consequences, such as hypoglycemia unawareness and cardiovascular dysfunction. A near-normal control of blood glucose in the early years after onset of diabetes may delay the development of clinically significant nerve impairment and, therefore, children and adolescents with diabetes represent a critical target for primary prevention of this complication. The aim of this review is to focus on the main clinical, epidemiological and prognostic aspects of DN in children and adolescents with T1DM. Etiopathogenetic theories and diagnostic tools are also reviewed from in a pediatric perspective. PMID:15043690

  3. Neuropathy target esterase (NTE): overview and future.

    PubMed

    Richardson, Rudy J; Hein, Nichole D; Wijeyesakere, Sanjeeva J; Fink, John K; Makhaeva, Galina F

    2013-03-25

    Neuropathy target esterase (NTE) was discovered by M.K. Johnson in his quest for the entity responsible for the striking and mysterious paralysis brought about by certain organophosphorus (OP) esters. His pioneering work on OP neuropathy led to the view that the biochemical lesion consisted of NTE that had undergone OP inhibition and aging. Indeed, nonaging NTE inhibitors failed to produce disease but protected against neuropathy from subsequently administered aging inhibitors. Thus, inhibition of NTE activity was not the culprit; rather, formation of an abnormal protein was the agent of the disorder. More recently, however, Paul Glynn and colleagues showed that whereas conventional knockout of the NTE gene was embryonic lethal, conditional knockout of central nervous system NTE produced neurodegeneration, suggesting to these authors that the absence of NTE rather than its presence in some altered form caused disease. We now know that NTE is the 6th member of a 9-protein family called patatin-like phospholipase domain-containing proteins, PNPLA1-9. Mutations in the catalytic domain of NTE (PNPLA6) are associated with a slowly developing disease akin to OP neuropathy and hereditary spastic paraplegia called NTE-related motor neuron disorder (NTE-MND). Furthermore, the NTE protein from affected individuals has altered enzymological characteristics. Moreover, closely related PNPLA7 is regulated by insulin and glucose. These seemingly disparate findings are not necessarily mutually exclusive, but we need to reconcile recent genetic findings with the historical body of toxicological data indicating that inhibition and aging of NTE are both necessary in order to produce neuropathy from exposure to certain OP compounds. Solving this mystery will be satisfying in itself, but it is also an enterprise likely to pay dividends by enhancing our understanding of the physiological and pathogenic roles of the PNPLA family of proteins in neurological health and disease, including a potential role for NTE in diabetic neuropathy. PMID:23220002

  4. Ischemic Neuropathy Associated with Livedoid Vasculitis

    PubMed Central

    Kim, Jee-Eun; Park, Su-Yeon; Sinn, Dong In; Kim, Sung-Min; Hong, Yoon-Ho; Park, Kyung Seok; Lee, Kwang-Woo

    2011-01-01

    Background Livedoid vasculitis is a chronic dermatological problem with an unclear etiology. Clinical findings are petechiae with painful ulcers in both lower extremities, which heal to become hyperpigmented and porcelain-white satellite lesions. There are only a few reported cases of livedoid vasculitis presenting in combination with peripheral neuropathy. Case Report We report the first case of a Korean patient presenting with mononeuritis multiplex combined with livedoid vasculitis, which was confirmed by electrophysiological and pathological studies. Conclusions Our report supports the possible vaso-occlusive etiology of livedoid vasculitis in multifocal ischemic neuropathy. PMID:22259622

  5. Diagnosis and therapeutic options for peripheral vasculitic neuropathy

    PubMed Central

    2015-01-01

    Vasculitis can affect the peripheral nervous system alone (nonsystemic vasculitic neuropathy) or can be a part of primary or secondary systemic vasculitis. In cases of pre-existing systemic vasculitis, the diagnosis can easily be made, whereas suspected vasculitic neuropathy as initial or only manifestation of vasculitis requires careful clinical, neurophysiological, laboratory and histopathological workout. The typical clinical syndrome is mononeuropathia multiplex or asymmetric neuropathy, but distal-symmetric neuropathy can frequently be seen. Standard treatments include steroids, azathioprine, methotrexate and cyclophosphamide. More recently the B-cell antibody rituximab and intravenous immunoglobulins have shown to be effective in some vasculitic neuropathy types. PMID:25829955

  6. DIABETIC NEUROPATHY PART 1: OVERVIEW AND SYMMETRIC PHENOTYPES

    PubMed Central

    Pasnoor, Mamatha; Dimachkie, Mazen M.; Kluding, Patricia; Barohn, Richard J.

    2014-01-01

    Diabetes is the most common cause of neuropathy in US and neuropathies are the most common complication of diabetes mellitus affecting up to 50% of patients with type 1 and type 2 diabetes mellitus. Various types of neuropathies can be associated with diabetes mellitus.1 Symptoms usually include numbness, tingling, pain and weakness. Dizziness with postural changes can be seen with autonomic neuropathy. Metabolic, vascular and immune theories have been proposed for the pathogenesis of diabetic neuropathy. Pathologically axonal damage and segmental demyelination can be seen with diabetic neuropathies. Management of diabetic neuropathy should begin at the initial diagnosis of diabetes and mainly requires tight and stable glycemic control. Many medications are available for the treatment of neuropathic pain. PMID:23642717

  7. Painful peripheral neuropathy and sodium channel mutations.

    PubMed

    Hoeijmakers, Janneke G J; Faber, Catharina G; Merkies, Ingemar S J; Waxman, Stephen G

    2015-06-01

    Peripheral neuropathy can lead to neuropathic pain in a subset of patients. Painful peripheral neuropathy is a debilitating disorder, reflected by a reduced quality of life. Therapeutic strategies are limited and often disappointing, as in most cases targeted treatment is not available. Elucidating pathogenetic factors for pain might provide a target for optimal treatment. Voltage-gated sodium channels NaV1.7-NaV1.9 are expressed in the small-diameter dorsal root ganglion neurons and their axons. By a targeted gene approach, missense gain-of-function mutations of NaV1.7-NaV1.9 have been demonstrated in painful peripheral neuropathy. Functional analyses have shown that these mutations produce a spectrum of pro-excitatory changes in channel biophysics, with the shared outcome at the cellular level of dorsal root ganglion hyperexcitability. Reduced neurite outgrowth may be another consequence of sodium channel mutations, and possible therapeutic strategies include blockade of sodium channels or block of reverse operation of the sodium-calcium exchanger. Increased understanding of the pathophysiology of painful peripheral neuropathy offers new targets that may provide a basis for more effective treatment. PMID:25556685

  8. Speech Perception in Individuals with Auditory Neuropathy

    ERIC Educational Resources Information Center

    Zeng, Fan-Gang; Liu, Sheng

    2006-01-01

    Purpose: Speech perception in participants with auditory neuropathy (AN) was systematically studied to answer the following 2 questions: Does noise present a particular problem for people with AN: Can clear speech and cochlear implants alleviate this problem? Method: The researchers evaluated the advantage in intelligibility of clear speech over…

  9. Molecular cloning of neuropathy target esterase (NTE)

    Microsoft Academic Search

    Paul Glynn; David J. Read; Michael J. Lush; Yong Li; Jane Atkins

    1999-01-01

    Covalent modification of NTE, a neuronal protein with serine esterase activity, by certain organophosphates (OP) initiates degeneration of long axons in the peripheral and central nervous system. Simple inhibition of NTE esterase activity does not initiate neuropathy; the latter requires aging of the OP bound to the catalytic serine residue so that a negatively-charged species is left attached to the

  10. Neuropathy target esterase and phospholipid deacylation

    Microsoft Academic Search

    Paul Glynn

    2005-01-01

    Certain organophosphates react with the active site serine residue of neuropathy target esterase (NTE) and cause axonal degeneration and paralysis. Cloning of NTE revealed the presence of homologues in eukaryotes from yeast to man and that the protein has both a catalytic and a regulatory domain. The latter contains sequences similar to the regulatory subunit of protein kinase A, suggesting

  11. Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement

    PubMed Central

    Oh, Jung-Hwan; Lee, Han Sang; Cha, Dong Min

    2014-01-01

    Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI. PMID:25258575

  12. A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

    PubMed

    Duno, Morten; Wibrand, Flemming; Baggesen, Kirsten; Rosenberg, Thomas; Kjaer, Niels; Frederiksen, Anja L

    2013-02-25

    The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6. PMID:23266623

  13. Effects of treatments for symptoms of painful diabetic neuropathy: systematic review

    Microsoft Academic Search

    Man-chun Wong; Joanne W Y Chung; Thomas K S Wong

    2007-01-01

    Objective To evaluate the effects of treatments for the symptoms of painful diabetic neuropathy. Design Systematic review. Data sources Articles (English and full text) on double blind randomised trials found by searching with the key words anticonvulsant, antidepressant, non-steroidal antiinflammatory drugs, tramadol, opioid, ion channel blocker, diabetic neuropathy, diabetic peripheral neuropathy, peripheral neuropathy, and neuropathy. The search included Medline, Embase,

  14. Blood pressure regulation in diabetic patients with and without peripheral neuropathy.

    PubMed

    Wang, Siqi; Randall, David C; Knapp, Charles F; Patwardhan, Abhijit R; Nelson, Kevin R; Karounos, Dennis G; Evans, Joyce M

    2012-03-01

    Cardiac and vascular dysfunctions resulting from autonomic neuropathy (AN) are complications of diabetes, often undiagnosed. Our objectives were to: 1) determine sympathetic and parasympathetic components of compromised blood pressure (BP) regulation in patients with peripheral neuropathy and 2) rank noninvasive indexes for their sensitivity in diagnosing AN. We continuously measured electrocardiogram, arterial BP, and respiration during supine rest and 70° head-up tilt in 12 able-bodied subjects, 7 diabetics without, 7 diabetics with possible, and 8 diabetics with definite, sensory, and/or motor neuropathy (D2). During the first 3 min of tilt, systolic BP (SBP) of D2 decreased [-10.9 ± 4.5 (SE) mmHg] but increased in able-bodied (+4.8 ± 5.4 mmHg). Compared with able-bodied, D2 had smaller low-frequency (0.04-0.15 Hz) spectral power of diastolic BP, lower baroreflex effectiveness index (BEI), and more SBP ramps. Except for low-frequency power of SBP, D2 had greater SBP and smaller RR interval harmonic and nonharmonic components at rest across the 0.003- to 0.45-Hz region. In addition, our results support previous findings of smaller HF RR interval power, smaller numbers of baroreflex sequences, and lower baroreflex sensitivity in D2. We conclude that diabetic peripheral neuropathy is accompanied by diminished parasympathetic and sympathetic control of heart rate and peripheral vasomotion and diminished baroreflex regulation. A novel finding of this study lies in the sensitivity of BEI to detect AN, presumably because of its combination of parameters that measure reductions in both sympathetic control of vasomotion and parasympathetic control of heart rate. PMID:22049233

  15. Advances in diagnostics and outcome measures in peripheral neuropathies.

    PubMed

    Merkies, Ingemar S J; Faber, Catharina G; Lauria, Giuseppe

    2015-06-01

    Peripheral neuropathies are a group of acquired and hereditary disorders presenting with different distribution and nerve fiber class involvement. The overall prevalence is 2.4%, increasing to 8% in the elderly population. However, the frequency may vary depending on the underlying pathogenesis and association with systemic diseases. Distal symmetric polyneuropathy is the most common form, though multiple mononeuropathies, non-length dependent neuropathy and small fiber neuropathy can occur and may require specific diagnostic tools. The use of uniform outcome measures in peripheral neuropathies is important to improve the quality of randomized controlled trials, enabling comparison between studies. Recent developments in defining the optimal set of outcome measures in inflammatory neuropathies may serve as an example for other conditions. Diagnostic and outcome measure advances in peripheral neuropathies will be discussed. PMID:25703220

  16. Cerebellar learning distinguishes inflammatory neuropathy with and without tremor

    PubMed Central

    Schwingenschuh, Petra; Saifee, Tabish A.; Katschnig-Winter, Petra; Reilly, Mary M.; Lunn, Michael P.; Manji, Hadi; Aguirregomozcorta, Maria; Schmidt, Reinhold; Bhatia, Kailash P.; Rothwell, John C.

    2013-01-01

    Objectives: This study aims to investigate if patients with inflammatory neuropathies and tremor have evidence of dysfunction in the cerebellum and interactions in sensorimotor cortex compared to nontremulous patients and healthy controls. Methods: A prospective data collection study investigating patients with inflammatory neuropathy and tremor, patients with inflammatory neuropathy without tremor, and healthy controls on a test of cerebellar associative learning (eyeblink classical conditioning), a test of sensorimotor integration (short afferent inhibition), and a test of associative plasticity (paired associative stimulation). We also recorded tremor in the arms using accelerometry and surface EMG. Results: We found impaired responses to eyeblink classical conditioning and paired associative stimulation in patients with neuropathy and tremor compared with neuropathy patients without tremor and healthy controls. Short afferent inhibition was normal in all groups. Conclusions: Our data strongly suggest impairment of cerebellar function is linked to the production of tremor in patients with inflammatory neuropathy. PMID:23596070

  17. 77 FR 59930 - Clinical Development Programs for Disease-Modifying Agents for Peripheral Neuropathy; Public...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-01

    ...Disease-Modifying Agents for Peripheral Neuropathy; Public Workshop; Request for Comments...agents for the treatment of peripheral neuropathy. Discussion will focus on possible...agents, the types of painful peripheral neuropathies amenable to treatment with...

  18. Bilateral brachial plexus compressive neuropathy (crutch palsy).

    PubMed

    Raikin, S; Froimson, M I

    1997-01-01

    Brachial plexus compressive neuropathy following the use of axillary crutches (crutch palsy) is a rare but well-recognized entity. Most reported cases involve the posterior cord of the brachial plexus in children and have resolved spontaneously within 8-12 weeks. We recently treated a 36-year-old man who was using axillary crutches for mobilization after a supracondylar femoral fracture. Bilateral posterior cord (predominantly radial nerve) compressive neuropathy subsequently developed, with lesser involvement of the ulnar and median nerves. The patient had little to no improvement clinically 8 weeks after the estimated onset of the palsy, and an electromyogram at that time confirmed the presence of a severe axonotmesis lesion of the radial, median, and ulnar nerves bilaterally. The patient was treated with static cock-up wrist splinting and discontinuation of the axillary crutches. Return of sensory and motor function was delayed but occurred within 9 months. PMID:9057152

  19. Albuminuria and neuropathy in newly detected diabetics: profile and correlation.

    PubMed

    Karmakar, Rathindra Nath; Khandakar, M R; Gangopadhyay, P K; Ghosh, Kartik; Babu, Anindita Sinha

    2011-06-01

    Neuropathy and nephropathy are two most common chronic complications of diabetes mellitus. Albuminuria and neuropathy has been found to be associated in patients with long standing diabetes. In the present study, the profiles of proteinuria and neuropathy have been studied in newly diagnosed cases of type 2 diabetes mellitus and attempt has been made to determine any relationship between the two. We studied 100 newly diagnosed ceases of type 2 diabetes mellitus and presence and type of neuropathy was assessed clinically and electrophysiologically. Albuminuria was detected by morning spot sample for albumin to creatinine ratio estimation. Results were analysed using appropriate statistical methods. It was found that 21 patients (21%) had proteinuria and 31 (31%) had neuropathy. Both were present in 16% patients and absent in 64% cases. The overall prevalence of neuropathy and proteinuria among study subjects was 36%. Isolated peripheral neuropathy was found in 9% patients, isolated autonomic neuropathy was found in 7% patients, and both were present in 15% cases. Proteinuria was mostly micro-albuminuria (90.5%). Occurrence of albuminuria and neuropathy has been found to be significantly associated with increasing age. Concurrence of diabetic neuropathy and albuminuria has been found to be significantly associated. The present study reveals that presence of neuropathy as well as nephropathy is common in newly diagnosed cases of type 2 diabetes mellitus. Both these complications have been significantly associated with increasing age indicating the possibility of a longer duration of undetected diabetes among them. Concurrence of neuropathy and nephropathy found in this study suggests that microvascular complications go hand in hand. PMID:22315767

  20. Morphometry of endoneurial capillaries in diabetic sensory and autonomic neuropathy

    Microsoft Academic Search

    J. Bradley; P. K. Thomas; R. H. M. King; J. G. Llewelyn; J. R. Muddle; P. J. Watkins

    1990-01-01

    Summary  Nerve biopsies were obtained from 27 patients with diabetic neuropathy. All had a symmetric distal sensory and autonomic neuropathy or a purely sensory neuropathy. Mean age was 39.8 years (range 23–57 years). Two patients had Type 2 (non-insulin-dependent) diabetes mellitus and the remainder Type 1 (insulin-dependent) diabetes. Morphometric observations on endoneurial capillaries were compared with results from organ donor control

  1. Diagnosis and Treatment of Pain in Small-fiber Neuropathy

    Microsoft Academic Search

    Alexandra Hovaguimian; Christopher H. Gibbons

    2011-01-01

    Small-fiber neuropathy manifests in a variety of different diseases and often results in symptoms of burning pain, shooting\\u000a pain, allodynia, and hyperesthesia. Diagnosis of small-fiber neuropathy is determined primarily by the history and physical\\u000a exam, but functional neurophysiologic testing and skin biopsy evaluation of intraepidermal nerve-fiber density can provide\\u000a diagnostic confirmation. Management of small-fiber neuropathy depends on the underlying etiology

  2. Diagnosis and treatment of diabetic autonomic neuropathy

    Microsoft Academic Search

    Dan Ziegler

    2001-01-01

    Diabetic autonomic neuropathy (DAN) is associated with a markedly reduced quality of life and poor prognosis. The manifestations\\u000a of DAN cause multiple symptoms and involve the 1) cardiovascular system: resting tachycardia, reduced heart rate variability\\u000a and circadian rhythm of heart rate and blood pressure, painless myocardial ischemia\\/ infarction, orthostatic hypotension,\\u000a exercise intolerance, perioperative instability, sudden death; 2) respiratory system: reduced

  3. Cold paresis in multifocal motor neuropathy

    Microsoft Academic Search

    Dirk C. G. Straver; Jan-Thies H. van Asseldonk; Nicolette C. Notermans; John H. J. Wokke; Leonard H. van den Berg; Hessel Franssen

    2011-01-01

    Increased weakness during cold (cold paresis) was reported in single cases of multifocal motor neuropathy (MMN). This was\\u000a unexpected because demyelination is a feature of MMN and symptoms of demyelination improve, rather than worsen, in cold. It\\u000a was hypothesized that cold paresis in MMN does not reflect demyelination only, but may indicate the existence of inflammatory\\u000a nerve lesions with permanently

  4. Nerve Growth Factor and Diabetic Neuropathy

    PubMed Central

    Vinik, Aaron

    2003-01-01

    Neuropathy is one of the most debilitating complications of both type 1 and type 2 diabetes, with estimates of prevalence between 50–90% depending on the means of detection. Diabetic neuropathies are heterogeneous and there is variable involvement of large myelinated fibers and small, thinly myelinated fibers. Many of the neuronal abnormalities in diabetes can be duplicated by experimental depletion of specific neurotrophic factors, their receptors or their binding proteins. In experimental models of diabetes there is a reduction in the availability of these growth factors, which may be a consequence of metabolic abnormalities, or may be independent of glycemic control. These neurotrophic factors are required for the maintenance of the neurons, the ability to resist apoptosis and regenerative capacity. The best studied of the neurotrophic factors is nerve growth factor (NGF) and the related members of the neurotrophin family of peptides. There is increasing evidence that there is a deficiency of NGF in diabetes, as well as the dependent neuropeptides substance P (SP) and calcitonin gene-related peptide (CGRP) that may also contribute to the clinical symptoms resulting from small fiber dysfunction. Similarly, NT3 appears to be important for large fiber and IGFs for autonomic neuropathy. Whether the observed growth factor deficiencies are due to decreased synthesis, or functional, e.g. an inability to bind to their receptor, and/or abnormalities in nerve transport and processing, remains to be established. Although early studies in humans on the role of neurotrophic factors as a therapy for diabetic neuropathy have been unsuccessful, newer agents and the possibilities uncovered by further studies should fuel clinical trials for several generations. It seems reasonable to anticipate that neurotrophic factor therapy, specifically targeted at different nerve fiber populations, might enter the therapeutic armamentarium. PMID:14668049

  5. Neuropathy Dermatitis following Surgical Nerve Injury.

    PubMed

    Sharquie, Khalifa E; Noaimi, Adil A; Alaboudi, Ali S

    2011-01-01

    Background. Cutting nerve during operations like saphenous vein grafting and knee joint surgery are common surgical procedures. Objective. To report cases of dermatitis at the site of neuropathy following skin incision for saphenous vein grafting and knee joint surgery. Patients and Methods. This case report work was done in the Department of Dermatology, Baghdad Teaching Hospital, during 2009-2010, seven cases were recorded, six following saphenous vein grafting and one case after knee surgery. Five males and two females, their ages ranged from 50 to 66 (58?±?5.033223) years. Detailed history and full clinical examination were done for each patient regarding all points related to their conditions. Results. All cases presented around 2-3 months following the operation with dermatitis at the site of operational incision. The dermatitis appeared on one side of the operational scar and at area of neuropathy, and the rash did not cross to contralateral side. The dermatitis was well-defined plaque or patch erythematous slight scaly and nonitchy and subsided within few weeks with or without topical therapy. Conclusions. Neuropathy dermatitis is apparently a new variant of dermatitis that follows nerve cut during surgery. PMID:23198170

  6. A reversible functional sensory neuropathy model.

    PubMed

    Danigo, Aurore; Magy, Laurent; Richard, Laurence; Sturtz, Franck; Funalot, Benoît; Demiot, Claire

    2014-06-13

    Small-fiber neuropathy was induced in young adult mice by intraperitoneal injection of resiniferatoxin (RTX), a TRPV1 agonist. At day 7, RTX induced significant thermal and mechanical hypoalgesia. At day 28, mechanical and thermal nociception were restored. No nerve degeneration in skin was observed and unmyelinated nerve fiber morphology and density in sciatic nerve were unchanged. At day 7, substance P (SP) was largely depleted in dorsal root ganglia (DRG) neurons, although calcitonin gene-related peptide (CGRP) was only moderately depleted. Three weeks after, SP and CGRP expression was restored in DRG neurons. At the same time, CGRP expression remained low in intraepidermal nerve fibers (IENFs) whereas SP expression had improved. In summary, RTX induced in our model a transient neuropeptide depletion in sensory neurons without nerve degeneration. We think this model is valuable as it brings the opportunity to study functional nerve changes in the very early phase of small fiber neuropathy. Moreover, it may represent a useful tool to study the mechanisms of action of therapeutic strategies to prevent sensory neuropathy of various origins. PMID:24792390

  7. Clinically diagnosed diabetic neuropathy: frequency, types and severity.

    PubMed Central

    Ugoya, Solomon O.; Echejoh, Godwins O.; Ugoya, Tokunbo A.; Agaba, Emmanuel I.; Puepet, Fabian H.; Ogunniyi, Adesola

    2006-01-01

    OBJECTIVE: Studies of frequency of occurrence of diabetic neuropathy are few, and available studies were limited to the southern part of Nigeria. The objectives of the study were to determine the frequency of occurrence and grades of diabetes peripheral neuropathy using clinical measures. PATIENTS AND METHODS: Consecutive patients with diabetes mellitus attending the Jos University Teaching Hospital were recruited as the study population, including 120 diabetics and 60 age-matched, nondiabetic controls. A standard proforma based on the Michigan Neuropathy Screening Instrument (MNSI) was employed to screen for diabetic neuropathy. RESULTS: The frequency of occurrence of diabetic peripheral neuropathy was 75%. For the specific types of peripheral neuropathy, sensorimotor neuropathy was the commonest (40.4%, chi(2)=29.1; p<0.001). There was no significant difference, with severity of peripheral neuropathy among diabetics, when compared by gender. (Chi square=3.03, P value=0.081). CONCLUSION: The frequency of occurrence of peripheral neuropathy among diabetics in Jos University Teaching Hospital from this study is rather high. PMID:17128685

  8. [Uremic neuropathy--II. Is pruritus in dialyzed patients related to neuropathy?].

    PubMed

    Jedras, M; Zakrzewska-Pniewska, B; Wardyn, K; Switalski, M

    1998-06-01

    The problem of pruritus in dialyzed patients remains unsolved. The aim of this study was to analyse the relationship between pruritus and clinical symptoms and signs, and electrophysiological aspects of peripheral neuropathy, both somatic and autonomic. 51 patients with end-stage renal failure undergoing hemodialysis were examined. Diabetics were excluded. Apart from taking history and physical examination, conduction velocities in peripheral nerves were determined, and R-R interval variation (RRIV: assessment of vagal function) and sympathetic skin response (SSR) tests were performed. Pruritus was present in about 63% of patients. In majority of them, symptoms and sings of neuropathy were also found. A significant relationship between pruritus and paresthesia was noted. This indicates a possible relationship between pruritus and secondary neuropathy. PMID:10085700

  9. Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.

    PubMed

    Allen, Keri F; Gaier, Eric D; Wiggs, Janey L

    2015-01-01

    Inherited disorders of the optic nerve significantly impact vision in children and adults. The optic nerve disorders most commonly encountered clinically are glaucoma and primary optic neuropathy including Leber's hereditary optic neuropathy (LHON) and autosomal dominant or Kjer's optic atrophy. Current knowledge of the genetics of optic neuropathy and glaucoma makes it possible to test for mutations in disease-causing genes allowing for presymptomatic testing and risk assessment, and recent advances have revealed important disease mechanisms that may suggest potential therapeutic targets. In this perspective, we describe the current approaches and limitations to genetic testing for these disorders and provide an update on the development of gene-based therapies. PMID:26134840

  10. Comparison of efficiencies of michigan neuropathy screening instrument, neurothesiometer, and electromyography for diagnosis of diabetic neuropathy.

    PubMed

    Mete, Turkan; Aydin, Yusuf; Saka, Mustafa; Cinar Yavuz, Halise; Bilen, Sule; Yalcin, Yavuz; Arli, Berna; Berker, Dilek; Guler, Serdar

    2013-01-01

    Aim. This study compares the effectiveness of Michigan Neuropathy Screening Instrument (MNSI), neurothesiometer, and electromyography (EMG) in detecting diabetic peripheral neuropathy in patients with diabetes type 2. Materials and Methods. 106 patients with diabetes type 2 treated at the outpatient clinic of Ankara Numune Education and Research Hospital Department of Endocrinology between September 2008 and May 2009 were included in this study. Patients were evaluated by glycemic regulation tests, MNSI (questionnaire and physical examination), EMG (for detecting sensorial and motor defects in right median, ulnar, posterior tibial, and bilateral sural nerves), and neurothesiometer (for detecting alterations in cold and warm sensations as well as vibratory sensations). Results. According to the MNSI score, there was diabetic peripheral neuropathy in 34 (32.1%) patients (score ?2.5). However, when the patients were evaluated by EMG and neurothesiometer, neurological impairments were detected in 49 (46.2%) and 79 (74.5%) patients, respectively. Conclusion. According to our findings, questionnaires and physical examination often present lower diabetic peripheral neuropathy prevalence. Hence, we recommend that in the evaluation of diabetic patients neurological tests should be used for more accurate results and thus early treatment options to prevent neuropathic complications. PMID:23818897

  11. Trichloroethylene cranial neuropathy: is it really a toxic neuropathy or does it activate latent herpes virus?

    Microsoft Academic Search

    J B Cavanagh; P H Buxton

    1989-01-01

    The mechanism of the cranial neuropathy associated with heavy exposure to trichloroethylene (or dichloroethylene) is unknown. In severe cases there is destructive spread of the neuropathic process from the Vth cranial nerve nuclei up and down the brain stem in a manner that is difficult to explain on accepted neurotoxicological principles. However, there is a close association reported of this

  12. Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family

    Microsoft Academic Search

    L. Leonardis; J. Zidar; M. Popovi?; V. Timmerman; A. Löfgren; C. Van Broeckhoven; D. Butinar

    2000-01-01

    In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy -Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. All sensory modalities were affected distally

  13. Quality assessment of online patient education resources for peripheral neuropathy.

    PubMed

    Hansberry, David R; Suresh, Ragha; Agarwal, Nitin; Heary, Robert F; Goldstein, Ira M

    2013-03-01

    Given its practicality, the internet is a primary resource for patients afflicted with diseases like peripheral neuropathy. Therefore, it is important that the readily available online resources on peripheral neuropathy are tailored to the general public, particularly concerning readability. Patient education resources were downloaded from the US National Library of Medicine, Mayo Clinic, National Institute of Neurological Disorders and Stroke, Neuropathy.org, GBS/CIDP Foundation International, Hereditary Neuropathy Foundation, Charcot-Marie-Tooth Association, Foundation for Peripheral Neuropathy, and Neuropathy Action Foundation websites. All patient education material related to peripheral neuropathy was evaluated for its level of readability using the Flesch Reading Ease (FRE) and Flesch-Kincaid Grade Level. The FRE scores averaged 43.4 with only the US National Library of Medicine scoring above 60 (76.5). The Flesch-Kincaid Grade Level scores averaged 11.0. All scores were above a seventh-grade level except the US National Library of Medicine, which had a score of a fifth-grade reading level. Most Americans may not fully benefit from patient education resources concerning peripheral neuropathy education on many of the websites. Only the US National Library of Medicine, which is written at a fifth-grade level, is likely to benefit the average American. PMID:23521643

  14. The Center for Peripheral Neuropathy Department of Neurology

    E-print Network

    Sherman, S. Murray

    #12;The Center for Peripheral Neuropathy Department of Neurology The University of Chicago 5841://PeripheralNeuropathyCenter.uchicago.edu Faculty and Administration Brian Popko, Ph.D. Jack Miller Professor in Neurological Diseases and Associate Chair for Research, Department of Neurology Raymond P. Roos, M.D. Professor, Department of Neurology

  15. Properties of human skin mechanoreceptors in peripheral neuropathy

    Microsoft Academic Search

    K Mizobuchi; S Kuwabara; S Toma; Y Nakajima; K Ogawara; T Hattori

    2002-01-01

    Objectives: To investigate the properties of mechanoreceptors in patients with peripheral neuropathy. The skin mechanoreceptor is a terminal organ of the primary sensory neuron, which is likely to be affected earlier and more severely than is the nerve trunk by peripheral neuropathies.Methods: Single sensory unit responses to air-puff and electric stimulation were recorded using the microneurographic technique in the glabrous

  16. Peripheral Insensate Neuropathy—A Tall Problem for US Adults?

    Microsoft Academic Search

    Yiling J. Cheng; Edward W. Gregg; Henry S. Kahn; Desmond E. Williams; Nathalie De Rekeneire; K. M. Venkat Narayan

    2006-01-01

    The relation between height and lower extremity peripheral insensate neuropathy among persons with and without diabetes was examined by use of the 1999-2002 US National Health and Nutrition Examination Survey with 5,229 subjects aged 40 or more years. A monofilament was used to determine whether any of three areas on each foot were insensate. Peripheral insensate neuropathy was defined as

  17. Comparison of different modalities for detection of small fiber neuropathy

    Microsoft Academic Search

    Karen Tobin; Michael J Giuliani; David Lacomis

    1999-01-01

    Objectives: In general, large fiber sensory function is easier to assess than small fiber function both clinically and electrophysiologically. Therefore, small fiber sensory neuropathies are more difficult to diagnose. The relative sensitivities of different electrodiagnostic tests for small fiber neuropathy are not known. We sought to determine and compare the sensitivities of quantitative thermal sensory testing (QST), quantitative sudomotor axon

  18. Small fiber neuropathy: a common and important clinical disorder

    Microsoft Academic Search

    E. Hoitsma; J. P. H. Reulen; M. de Baets; M. Drent; F. Spaans; C. G. Faber

    2004-01-01

    Small fiber neuropathy (SFN) is a neuropathy selectively involving small diameter myelinated and unmyelinated nerve fibers. Interest in this disorder has considerably increased during the past few years. It is often idiopathic and typically presents with peripheral pain and\\/or symptoms of autonomic dysfunction. Diagnosis is made on the basis of the clinical features, normal nerve conduction studies (NCS) and abnormal

  19. Peripheral neuropathies of rheumatologic disease and gluten-related disorders.

    PubMed

    Reda, Haatem; Chin, Russell L

    2014-09-01

    Peripheral nervous system disease is a common and often debilitating feature of many systemic rheumatologic disorders. Such involvement takes many forms, reflecting the variety of underlying pathophysiology, though most patients present with painful multifocal neuropathy (usually vasculitic) or a distal sensory more than motor peripheral neuropathy (sometimes vasculitic and nearly always axonal). The presence of peripheral nervous system involvement is often an early signal of the generalization of inflammatory disease in blood vessels or extravascular tissues, though peripheral neuropathy is not itself an independent predictor of mortality. Nonetheless, progressive multifocal neuropathy, motor neuropathy, small fiber neuropathy, and sensory neuronopathy should be treated early and aggressively with immunosuppression (or the gluten-free diet in appropriate situations) to limit morbidity. Given the rapidly evolving therapeutic landscape, partnership with a rheumatologist is essential. Treatment is usually sustained for 1 to 2 years, and remission is possible in many cases within 6 to 12 months, with variable rates of relapse and treatment resistance. Patients should be meticulously monitored for relapse with serial laboratory testing, electrodiagnostic studies, and clinical examination. Functional rating scores, such as the neuropathy impairment scale and the total neuropathy score are useful for longitudinal assessment. PMID:25369437

  20. Ischemic neuropathy and rhabdomyolysis as presenting symptoms of postpartum cardiomyopathy.

    PubMed

    Helmich, Rick C G; van Laarhoven, Hanneke W M; Schoonderwaldt, Hennie C; Janssen, Mirian C H

    2009-05-01

    Rhabdomyolysis and peripheral neuropathy are two distinct disease entities which are rarely encountered in combination. We present a woman with rhabdomyolysis and peripheral neuropathy 3 weeks postpartum. Her symptoms were caused by bilateral femoral artery thrombosis due to postpartum cardiomyopathy (PPCM). This demonstrates that PPCM may present with predominantly non-cardial symptoms and underscores the importance of rapidly recognizing this disorder. PMID:18581059

  1. Evidence that mouse brain neuropathy target esterase is a lysophospholipase

    Microsoft Academic Search

    Gary B. Quistad; Carrolee Barlow; Christopher J. Winrow; Susan E. Sparks; John E. Casida

    2003-01-01

    Neuropathy target esterase (NTE) is inhibited by several organophosphorus (OP) pesticides, chemical warfare agents, lubricants, and plasticizers, leading to OP-induced delayed neuropathy in people (>30,000 cases of human paralysis) and hens (the best animal model for this demyelinating disease). The active site region of NTE as a recombinant protein preferentially hydrolyzes lysolecithin, suggesting that this enzyme may be a type

  2. Cranial Neuropathy due to Intradural Disc Herniation

    PubMed Central

    Rapoport, Benjamin I.; Hartl, Roger; Schwartz, Theodore H.

    2014-01-01

    Background and Importance Herniated intervertebral disc fragments rarely penetrate the thecal sac, and intracranial hypotension attributable to such penetrating fragments is even more unusual. We describe the first reported case of a cranial neuropathy due to intradural herniation of a disc fragment, in which intracranial hypotension from a resulting cerebrospinal fluid leak caused bilateral abducens palsies. Clinical Presentation A 45-year-old man presented with a positional headache after having experienced a “popping” sensation in his back while lifting a heavy object. He also complained of blurred vision and was noted to have lateral gaze palsies bilaterally. Magnetic resonance imaging (MRI) of the brain revealed bilateral subdural collections, abnormal pachymeningeal enhancement, and cerebellar tonsillar herniation, suggesting intracranial hypotension. T2-weighted MRI of the spine revealed extrusion of the T12-L1 disc and suggested the presence of a disc fragment in the intradural space, displacing the caudal nerve roots. A myelogram demonstrated a filling defect extending into the subarachnoid space adjacent to the disc herniation, consistent with a free disc fragment in the intradural space. A diagnosis of intracranial hypotension due to a cerebrospinal fluid leak resulting from an intradural herniated disc was made. The diagnosis was confirmed intraoperatively. Conclusion Surgical removal of the herniated disc fragment and repair of the dural defect resulted in complete resolution of the cranial neuropathy. This rare etiology of a cranial neuropathy, arising from pathology in the thoracolumbar spine, illustrates the clinical teaching that the sixth cranial nerves are highly sensitive to deformation induced by intracranial hypotension. PMID:24535263

  3. Optical energy storage and reemission based weak localization of light and accompanying random lasing action in disordered Nd3+ doped (Pb, La)(Zr, Ti)O3 ceramics

    NASA Astrophysics Data System (ADS)

    Xu, Long; Zhao, Hua; Xu, Caixia; Zhang, Siqi; Zhang, Jingwen

    2014-08-01

    Multi-mode random lasing action and weak localization of light were evidenced and studied in normally transparent but disordered Nd3+ doped (Pb,La)(Zr,Ti)O3 ceramics. Noticeable localized zone and multi-photon process were observed under strong pumping power. A tentative phenomenological physical picture was proposed by taking account of diffusive process, photo-induced scattering, and optical energy storage process as dominant factors in elucidating the weak localization of light observed. Both the decreased transmittance (increased reflectivity) of light and the observed long lasting fading-off phenomenon supported the physical picture proposed by us.

  4. Acute Toxic Neuropathy Mimicking Guillain Barre Syndrome

    PubMed Central

    Jalal, Muhammed Jasim Abdul; Fernandez, Shirley Joan; Menon, Murali Krishna

    2015-01-01

    Case: A 30 year old male presented with numbness of palms and soles followed by weakness of upper limbs and lower limbs of 5 days duration, which was ascending and progressive. Three months back he was treated for oral and genital ulcers with oral steroids. His ulcers improved and shifted to indigenous medication. His clinical examination showed polyneuropathy. CSF study did not show albuminocytological dissociation. Nerve conduction study showed demyelinating polyneuropathy. His blood samples and the ayurvedic drug samples were sent for toxicological analysis. Inference: Acute toxic neuropathy - Arsenic PMID:25811007

  5. Chemotherapy induced neuropathy in clinical practice Neuropatía inducida por quimioterapia en la práctica clínica

    Microsoft Academic Search

    Camilo E. Fadul

    SUMMARY Neuropathic pain is a common symptom amongst patients with chemotherapy induced peripheral nerve neurotoxicity, and symptoms are indistinguishable from those seen with toxic neuropathy from other causes. The neuropathy is predominantly sensory and follows a glove-stocking distribution and associates with burning pain. Autonomic neuropathy manifested as constipation frequently occurs. There are some risk factors for neuropathy caused by chemotherapy:

  6. Early diabetic neuropathy: Triggers and mechanisms

    PubMed Central

    Dobretsov, Maxim; Romanovsky, Dmitry; Stimers, Joseph R

    2007-01-01

    Peripheral neuropathy, and specifically distal peripheral neuropathy (DPN), is one of the most frequent and troublesome complications of diabetes mellitus. It is the major reason for morbidity and mortality among diabetic patients. It is also frequently associated with debilitating pain. Unfortunately, our knowledge of the natural history and pathogenesis of this disease remains limited. For a long time hyperglycemia was viewed as a major, if not the sole factor, responsible for all symptomatic presentations of DPN. Multiple clinical observations and animal studies supported this view. The control of blood glucose as an obligatory step of therapy to delay or reverse DPN is no longer an arguable issue. However, while supporting evidence for the glycemic hypothesis has accumulated, multiple controversies accumulated as well. It is obvious now that DPN cannot be fully understood without considering factors besides hyperglycemia. Some symptoms of DPN may develop with little, if any, correlation with the glycemic status of a patient. It is also clear that identification of these putative non-glycemic mechanisms of DPN is of utmost importance for our understanding of failures with existing treatments and for the development of new approaches for diagnosis and therapy of DPN. In this work we will review the strengths and weaknesses of the glycemic hypothesis, focusing on clinical and animal data and on the pathogenesis of early stages and triggers of DPN other than hyperglycemia. PMID:17226897

  7. Episodic neurological dysfunction in hereditary peripheral neuropathy

    PubMed Central

    Kulkarni, Girish Baburao; Mailankody, Pooja; Isnwara, Pawanraj Palu; Prasad, Chandrajit; Mustare, Veerendrakumar

    2015-01-01

    Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes. PMID:25745327

  8. Identifying Common Genetic Risk Factors of Diabetic Neuropathies

    PubMed Central

    Witzel, Ini-Isabée; Jelinek, Herbert F.; Khalaf, Kinda; Lee, Sungmun; Khandoker, Ahsan H.; Alsafar, Habiba

    2015-01-01

    Type 2 diabetes mellitus (T2DM) is a global public health problem of epidemic proportions, with 60–70% of affected individuals suffering from associated neurovascular complications that act on multiple organ systems. The most common and clinically significant neuropathies of T2DM include uremic neuropathy, peripheral neuropathy, and cardiac autonomic neuropathy. These conditions seriously impact an individual’s quality of life and significantly increase the risk of morbidity and mortality. Although advances in gene sequencing technologies have identified several genetic variants that may regulate the development and progression of T2DM, little is known about whether or not the variants are involved in disease progression and how these genetic variants are associated with diabetic neuropathy specifically. Significant missing heritability data and complex disease etiologies remain to be explained. This article is the first to provide a review of the genetic risk variants implicated in the diabetic neuropathies and to highlight potential commonalities. We thereby aim to contribute to the creation of a genetic-metabolic model that will help to elucidate the cause of diabetic neuropathies, evaluate a patient’s risk profile, and ultimately facilitate preventative and targeted treatment for the individual. PMID:26074879

  9. Identifying Common Genetic Risk Factors of Diabetic Neuropathies.

    PubMed

    Witzel, Ini-Isabée; Jelinek, Herbert F; Khalaf, Kinda; Lee, Sungmun; Khandoker, Ahsan H; Alsafar, Habiba

    2015-01-01

    Type 2 diabetes mellitus (T2DM) is a global public health problem of epidemic proportions, with 60-70% of affected individuals suffering from associated neurovascular complications that act on multiple organ systems. The most common and clinically significant neuropathies of T2DM include uremic neuropathy, peripheral neuropathy, and cardiac autonomic neuropathy. These conditions seriously impact an individual's quality of life and significantly increase the risk of morbidity and mortality. Although advances in gene sequencing technologies have identified several genetic variants that may regulate the development and progression of T2DM, little is known about whether or not the variants are involved in disease progression and how these genetic variants are associated with diabetic neuropathy specifically. Significant missing heritability data and complex disease etiologies remain to be explained. This article is the first to provide a review of the genetic risk variants implicated in the diabetic neuropathies and to highlight potential commonalities. We thereby aim to contribute to the creation of a genetic-metabolic model that will help to elucidate the cause of diabetic neuropathies, evaluate a patient's risk profile, and ultimately facilitate preventative and targeted treatment for the individual. PMID:26074879

  10. The metabolic syndrome and neuropathy: therapeutic challenges and opportunities.

    PubMed

    Callaghan, Brian; Feldman, Eva

    2013-09-01

    The metabolic syndrome and neuropathy are common conditions, especially in the elderly, that are associated with significant morbidity. Furthermore, the metabolic syndrome is reaching epidemic proportions across the world. Current evidence supports the association of the metabolic syndrome and its individual components with neuropathy. Several clinical trials have demonstrated that treating hyperglycemia, a component of the metabolic syndrome, has a significant effect on reducing the incidence of neuropathy in those with type 1 diabetes. However, glucose control has only a marginal effect on preventing neuropathy in those with type 2 diabetes, suggesting that other factors may be driving nerve injury in these patients. Emerging evidence supports the metabolic syndrome as including risk factors for neuropathy. Interventions exist for treatment of all of the metabolic syndrome components, but only glucose control has strong evidence to support its use and is widely employed. Our understanding of the biology of metabolic nerve injury has rapidly expanded over the past several years. Mechanisms of injury include fatty deposition in nerves, extracellular protein glycation, mitochondrial dysfunction, and oxidative stress. Additionally, the activation of counter-regulatory signaling pathways leads to chronic metabolic inflammation. Medications that target these signaling pathways are being used for a variety of diseases and are intriguing therapeutic agents for future neuropathy clinical trials. As we move forward, we need to expand our understanding of the association between the metabolic syndrome and neuropathy by addressing limitations of previous studies. Just as importantly, we must continue to investigate the pathophysiology of metabolically induced nerve injury. PMID:23929529

  11. Epidemiology and clinical features of HIV-1 associated neuropathies.

    PubMed

    Verma, A

    2001-03-01

    Peripheral neuropathy is common in human immunodeficiency virus type-1 (HIV-1) infection. Peripheral neuropathies complicate all stages of the HIV-1 disease and cause considerable morbidity and disability in HIV-1 infected individuals and acquired immunodeficiency syndrome (AIDS) patients. Whereas symptomatic neuropathies occur in approximately 10% to 15% of HIV-1-infected patients overall, pathologic evidence of peripheral nerve involvement is present in virtually all end-stage AIDS patients. There are 6 major clinical types of HIV-associated neuropathies that are regularly seen in large HIV-1 clinics. Distal sensory polyneuropathy (DSP) is the most common among the HIV-1-associated neuropathies. DSP generally occurs in later stages of HIV-1 infection and it follows an indolent and protracted clinical course. The dominant clinical features in DSP include distal pain, paresthesia and numbness in a typical length-dependent fashion with proximal to distal gradient. Whereas toxic neuropathies--secondary to certain antiretroviral agents--are clinically similar to DSP, their temporal relation to neurotoxic medication helps distinguish them from other HIV-1-associated neuropathies. DSP and toxic neuropathy may coexist in a single patient. Acute and chronic inflammatory demyelinating polyradiculoneuropathies (AIDP and CIDP) produce global limb weakness. AIDP may occur at seroconversion and it can therefore be the initial manifestation of HIV-1 infection. CIDP generally occurs in the mid to late stages of HIV-1 infection. Progressive polyradiculopathy (PP) occurs in patients with advanced immunodeficiency and is generally caused by the opportunist cytomegalovirus (CMV) infection. Mononeuropathy multiplex (MM) in early stages of HIV-1 infection is immune mediated, whereas in advanced AIDS it is caused by the CMV infection. Finally, subclinical autonomic nervous system involvement is common in all stages of HIV-1 infection. Because HIV-1-associated neuropathies are diverse in their etiology and pathogenesis, a precise clinical diagnosis is required to formulate a rational therapeutic intervention. PMID:11293807

  12. Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

    PubMed Central

    van Schaik, I N; Jobsis, G; Vermeulen, M; Keizers, H; Bolhuis, P; de Visser, M

    1997-01-01

    Despite much effort, a 74 year old man with progressive proximal weakness and sensory disturbances due to axonal neuropathy remained a diagnostic problem. Investigation of his family disclosed an additional patient with a cerebellar syndrome and a family member with mainly pyramidal features. Analysis of DNA showed a CAG repeat expansion in the Machado-Joseph disease gene in all three patients. Although not conclusively proved, we think that the neuropathy of the index case is linked to the CAG repeat expansion. Machado-Joseph disease should be considered in progressive axonal neuropathy.?? PMID:9343141

  13. Acute motor and sensory axonal neuropathy in LEOPARD syndrome.

    PubMed

    Beukers, Richard J; van Bellegem, Annemarie C M; Gruppen, Mariken; Overweg-Plandsoen, Wouterina C G; Vermeulen, Marinus

    2010-04-01

    A case of acute predominantly axonal motor and sensory neuropathy (AMSAN) is reported in a 16-year-old boy with LEOPARD syndrome (the acronym represents lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness). The presentation was atypical for acute motor and sensory axonal neuropathy, in that this patient had progression of symptoms of more than 4 weeks and there were signs of reinnervation in the acute phase. Treatment response to intravenous immunoglobulins was excellent. In patients with LEOPARD syndrome and acute neuropathies, treatment with intravenous immunoglobulins should be considered. PMID:20304339

  14. Painful Diabetic Neuropathy Is Associated With Greater Autonomic Dysfunction Than Painless Diabetic Neuropathy

    PubMed Central

    Gandhi, Rajiv A.; Marques, Jefferson L.B.; Selvarajah, Dinesh; Emery, Celia J.; Tesfaye, Solomon

    2010-01-01

    OBJECTIVE Although a clear link between diabetic peripheral neuropathy (DPN) and autonomic neuropathy is recognized, the relationship of autonomic neuropathy with subtypes of DPN is less clear. This study aimed to investigate the relationship of autonomic neuropathy with painless and painful DPN. RESEARCH DESIGN AND METHODS Eighty subjects (20 healthy volunteers, 20 with no DPN, 20 with painful DPN, 20 with painless DPN) underwent detailed neurophysiological investigations (including conventional autonomic function tests [AFTs]) and spectral analysis of short-term heart rate variability (HRV), which assesses sympathovagal modulation of the heart rate. Various frequency-domain (including low frequency [LF], high frequency [HF], and total power [TP]) and time-domain (standard deviation of all normal-to-normal R-R intervals [SDNN] and root mean square of successive differences [RMSSD]) parameters were assessed. RESULTS HRV analysis revealed significant differences across the groups in LF, HF, TP, SDNN, and RMSSD (ANOVA P < 0.001). Subgroup analysis showed that compared with painless DPN, painful DPN had significantly lower HF (3.59 ± 1.08 [means ± SD] vs. 2.67 ± 1.56), TP (5.73 ± 1.28 vs. 4.79 ± 1.51), and SDNN (2.91 ± 0.65 vs. 1.62 ± 3.5), P < 0.05. No significant differences were seen between painless DPN and painful DPN using an AFT. CONCLUSIONS This study shows that painful DPN is associated with significantly greater autonomic dysfunction than painless DPN. These changes are only detected using spectral analysis of HRV (a simple test based on a 5-min electrocardiogram recording), suggesting that it is a more sensitive tool to detect autonomic dysfunction, which is still under-detected in people with diabetes. The greater autonomic dysfunction seen in painful DPN may reflect more predominant small fiber involvement and adds to the growing evidence of its role in the pathophysiology of painful DPN. PMID:20587724

  15. Acute motor axonal neuropathy and acute motor-sensory axonal neuropathy share a common immunological profile.

    PubMed

    Yuki, N; Kuwabara, S; Koga, M; Hirata, K

    1999-10-15

    Griffin and colleagues (Griffin JW, Li CY, Ho TW, Tian M, Gao CY, Xue P, Mishu B, Cornblath DR, Macko C, McKhann GM, Asbury AK. Pathology of motor-sensory axonal Guillain-Barré syndrome. Ann Neurol 1996;39:17-28 [4]) proposed that acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN) are part of the spectrum of a single type of immune attack on the axon. In contrast, IgG anti-GM1 antibody is associated closely with AMAN, but whether other IgG anti-ganglioside antibodies are associated with this neuropathy is not clear. We investigated whether IgG anti-ganglioside antibodies can be used as immunological markers to differentiate AMAN from acute inflammatory demyelinating polyneuropathy (AIDP) and whether these autoantibodies are present in AMSAN. The frequencies of anti-GM1, anti-GM1b, and anti-GD1a IgG antibodies in 21 AMAN patients were significantly higher than in 19 AIDP patients. Anti-GM1b and anti-GD1a IgG, as well as anti-GM1 IgG antibodies, therefore are immunological markers for AMAN. The patients with AMSAN had anti-GM1, anti-GM1b, and anti-GD1a IgG antibodies, indicative that AMAN and AMSAN share a common immunological profile. PMID:10526194

  16. Pyridoxine-induced neuropathy in rats: a sensory neuropathy that responds to 4-methylcatechol.

    PubMed

    Callizot, N; Warter, J M; Poindron, P

    2001-08-01

    Sensory neuropathies are frequently associated with diabetes or with antimitotic treatments in humans suffering from cancer, and are in this case the most important limitation to the use of antimitotic drugs. For this reason, there is a need to establish and validate animal models of sensory neuropathies that could be routinely used, together with the already known models, for studying and evaluating the effects of putative neuroprotective compounds. In the present study, we prove by behavioral and electromyographical analyses that (a) it is possible to induce a nonlethal, exclusively sensory, reversible neuropathy by intoxicating rats with large amounts of pyridoxine, using a new schedule of intoxication; (b) 4-methylcatechol, a drug known to induce nerve growth factor synthesis, improves the clinical status of pyridoxine-intoxicated animals, shortens the duration of the disease, and restores the morphological integrity of the sensory fibers. Owing to its mode of installation and its clinical features, we propose that this model be used as an additional model for preclinical studies of neuroprotective drugs. PMID:11493027

  17. Peripheral neuropathy: pathogenic mechanisms and alternative therapies.

    PubMed

    Head, Kathleen A

    2006-12-01

    Peripheral neuropathy (PN), associated with diabetes, neurotoxic chemotherapy, human immunodeficiency virus (HIV)/antiretroviral drugs, alcoholism, nutrient deficiencies, heavy metal toxicity, and other etiologies, results in significant morbidity. Conventional pain medications primarily mask symptoms and have significant side effects and addiction profiles. However, a widening body of research indicates alternative medicine may offer significant benefit to this patient population. Alpha-lipoic acid, acetyl-L-carnitine, benfotiamine, methylcobalamin, and topical capsaicin are among the most well-researched alternative options for the treatment of PN. Other potential nutrient or botanical therapies include vitamin E, glutathione, folate, pyridoxine, biotin, myo-inositol, omega-3 and -6 fatty acids, L-arginine, L-glutamine, taurine, N-acetylcysteine, zinc, magnesium, chromium, and St. John's wort. In the realm of physical medicine, acupuncture, magnetic therapy, and yoga have been found to provide benefit. New cutting-edge conventional therapies, including dual-action peptides, may also hold promise. PMID:17176168

  18. Antioxidant Strategies in the Management of Diabetic Neuropathy

    PubMed Central

    Oyenihi, Ayodeji Babatunde; Ayeleso, Ademola Olabode; Masola, Bubuya

    2015-01-01

    Chronic hyperglycaemia (an abnormally high glucose concentration in the blood) resulting from defects in insulin secretion/action, or both, is the major hallmark of diabetes in which it is known to be involved in the progression of the condition to different complications that include diabetic neuropathy. Diabetic neuropathy (diabetes-induced nerve damage) is the most common diabetic complication and can be devastating because it can lead to disability. There is an increasing body of evidence associating diabetic neuropathy with oxidative stress. Oxidative stress results from the production of oxygen free radicals in the body in excess of its ability to eliminate them by antioxidant activity. Antioxidants have different mechanisms and sites of actions by which they exert their biochemical effects and ameliorate nerve dysfunction in diabetes by acting directly against oxidative damage. This review will examine different strategies for managing diabetic neuropathy which rely on exogenous antioxidants. PMID:25821809

  19. Childhood diabetic neuropathy: a clinical and electrophysiological study.

    PubMed

    el Bahri-Ben Mrad, F; Gouider, R; Fredj, M; Ben Becher, S; Mrad-Mazigh, S; Mrabet, A

    2000-01-01

    Clinical diabetic neuropathy in childhood is rare, but electrophysiological involvement of the peripheral nerve is more frequent. We assessed clinically and electrophysiologically the peripheral nervous system of 69 children and adolescents suffering from diabetes mellitus (DM). The mean age of the patients was 12.8 years and the mean age at onset of DM was 6.8 years with a mean disease duration of 6.3 years. Seven patients (10%) had clinical neuropathy of which ankle jerk reflex abolition was the most frequent sign. Twenty patients (29%) had a neurophysiological neuropathy prevalently affecting the lower limbs. Peripheral neuropathy was correlated with patient age, older age at onset, duration of DM, height and poor glycaemic control. PMID:10842758

  20. Diagnosing Neuropathy: The Key to Understanding the Cause

    MedlinePLUS

    ... in response to nerve stimulation. Skin Biopsy Small fiber neuropathy cannot be diagnosed with EMG and nerve conduction studies that only measure the large fibers. Consequently, if your neurologist suspects this type of ...

  1. Aspergillus parasellar abscess mimicking radiation-induced neuropathy

    Microsoft Academic Search

    Toshiki Endo; Yoshihiro Numagami; Hidefumi Jokura; Hidetoshi Ikeda; Reizo Shirane; Takashi Yoshimoto

    2001-01-01

    BACKGROUNDTranssphenoidal surgery is a safe procedure for treatment of pituitary adenomas. However, several complications, including post-surgical infection, are known. We describe a case of Aspergillus parasellar abscess that presented with cranial neuropathies following transsphenoidal surgery and radiosurgery. We initially diagnosed the case as radiation-induced neuropathies, which delayed the detection of Aspergillus.CASE DESCRIPTIONA 55-year-old man underwent transsphenoidal surgery for a pituitary

  2. Peripheral Neuropathy Associated With Nucleoside Reverse Transcriptase Inhibitor Therapy

    Microsoft Academic Search

    Bruce A. Cohen; Russell Bartt

    Peripheral neuropathies are the most common neurological syndromes associated with HIV infection. The spectrum of neuropathic\\u000a syndromes is broad (xi238-1|Table 1), and neuropathies may be encountered during any stage of the infection. Some disorders\\u000a of the peripheral nerves in patients with HIV infection are presumed to be caused by pathological factors resulting from the\\u000a virus itself, whereas others may result

  3. Characterization and Treatment of Chemotherapy Neuropathy | Division of Cancer Prevention

    Cancer.gov

    Numbness, tingling, and pain in the hands and feet following the administration of chemotherapy (also called chemotherapy-induced neuropathy (CIN)) is a common problem in oncology patients. However, more information is needed on why patients develop neuropathy and how it impacts their mood, ability to function, and their quality of life. In addition, effective treatments for this problem are not available at the present time. This study will be conducted in two parts.

  4. Pathogenesis and Treatment of Immune-Mediated Neuropathies

    PubMed Central

    Lehmann, Helmar C.; zu Horste, Gerd Meyer; Kieseier, Bernd C.

    2009-01-01

    Immune-mediated neuropathies represent a heterogeneous spectrum of peripheral nerve disorders that can be classified according to time course, predominant involvement of motor/sensory fibers, distribution of deficits and paraclinical parameters such as electrophysiology and serum antibodies. In the last few years, significant advances have been achieved in elucidating underlying pathomechanisms, which made it possible to identify potential therapeutic targets. In this review, we discuss the latest development in pathogenesis and treatment of immune-mediated neuropathies. PMID:21179533

  5. Interferon alfa treatment for Sjogren's syndrome associated neuropathy.

    PubMed

    Yamada, S; Mori, K; Matsuo, K; Inukai, A; Kawagashira, Y; Sobue, G

    2005-04-01

    Treatment response to interferon alfa (IFNalpha) is described in three consecutive cases of two forms of Sjogren's syndrome associated neuropathy (SSN)-two with sensory ataxic ganglionopathy and one with sensorimotor neuropathy with demyelinating features. All responded well to IFNalpha in terms of neuropathic symptoms, sicca symptoms, antibody titres, and findings in salivary gland biopsy specimens. IFNalpha thus showed promise in treating both SSN and the underlying Sjogren's syndrome. PMID:15774450

  6. Characterization of neuropathy target esterase using trifluoromethyl ketones

    Microsoft Academic Search

    THOMAS C. THOMAS; A SZEKACS; S ROJAS; B HAMMOCK; B WILSON; M MCNAMEE

    1990-01-01

    Neuropathy target esterase (NTE) is a membrane-bound carboxylesterase activity which is proposed as the target site in nerve tissue for initiation of organophosphate-induced delayed neuropathy. This activity is identified as phenyl valerate hydrolysis which is resistant to treatment with paraoxon and sensitive to co-incubation with paraoxon and mipafox. NTE preparations were obtained, which did not contain paraoxon-sensitive or mipafox-resistant hydrolases,

  7. Mitotoxicity and bortezomib-induced chronic painful peripheral neuropathy.

    PubMed

    Zheng, H; Xiao, W H; Bennett, G J

    2012-12-01

    Many of the most effective anti-cancer drugs induce a dose-limiting peripheral neuropathy that compromises therapy. Evidence from animal models of chemotherapy-induced painful peripheral neuropathy produced by the taxane agent, paclitaxel, and the platinum-complex agent, oxaliplatin, indicate that they produce neuropathy via a common mechanism-a toxic effect on the mitochondria in primary afferent sensory neurons. Bortezomib is from the proteasome-inhibitor class of chemotherapeutics. It also produces a dose-limiting peripheral neuropathy, but its effects on neuronal mitochondria are unknown. To investigate this, we developed a model of bortezomib-induced painful peripheral neuropathy in the rat and assessed mitochondrial function (respiration and ATP production) in sciatic nerve samples harvested at two time points: day 7, which is three days after treatment and before pain appears, and day 35, which is one month post-treatment and the time of peak pain severity. We found significant deficits in Complex I-mediated and Complex II-mediated respiration, and in ATP production at both time points. Prophylactic treatment with acetyl-L-carnitine, which has previously been shown to prevent paclitaxel- and oxaliplatin-induced mitochondrial dysfunction and pain, completely blocked bortezomib's effects on mitochondria and pain. These results suggest that mitotoxicity may be the core pathology for all chemotherapy-induced peripheral neuropathy and that drugs that protect mitochondrial function may be useful chemotherapy adjuncts. PMID:22947198

  8. Assessment of Recovery from Burn Related Neuropathy by Electrodiagnostic Testing

    PubMed Central

    Gabriel, Vincent; Kowalske, Karen J.; Holavanahalli, Radha K.

    2009-01-01

    The purpose of this study was to investigate the recovery of burn related neuropathies by electrodiagnostic testing. Burn patients who presented to an American Burn Association verified burn center were interviewed and examined for clinical evidence of peripheral neuropathies by a physiatrist. Patients whom consented to participate were tested for electrodiagnostic evidence of peripheral neuropathy. Repeated studies were performed to assess for evidence of recovery. A total of 370 patients were screened. 36 (9.73%) patients had clinical evidence of neuropathy. Eighteen male patients with a mean total body surface area burn of 42% had nerve conduction studies performed. Etiologies of the injuries included 8 flame, 8 electrical and 3 others. Seventy three nerve conduction studies were performed and 58 of the tests were abnormal. The most commonly affected nerve was the median sensory (10). For patients with repeated tests, the mean time between tests was 169 days (SD 140 days). There was a significant difference between the initial and follow up test (McNemar’s change test p=0.009). In subset analysis of motor and sensory abnormalities, there was no significant difference (p=0.07). The most common neuropathy identified in this cohort was the median sensory. Overall, there was improvement in the nerve conduction abnormalities examined. This study suggests that the prognosis for recovery after burn related neuropathy is good. PMID:19506500

  9. The Association between Autoantibodies and Peripheral Neuropathy in Lupus Nephritis

    PubMed Central

    Su, Yu-Jih; Huang, Chi-Ren; Chang, Wen-Neng; Tsai, Nai-Wen; Kung, Chia-Te; Lin, Wei-Che; Huang, Chih-Cheng; Su, Chih-Min; Cheng, Ben-Chung; Chang, Ya-Ting; Lu, Cheng-Hsien

    2014-01-01

    Background and Aim. The sensitivity and specificity of biomarkers used for predicting peripheral neuropathy in patients with systemic lupus erythematosus (SLE) and nephritis (SLE-LN) remain unsatisfactory. This study aimed to determine the autoantibodies levels in SLE-LN patients with peripheral neuropathy. Methods. Data of 559 SLE-LN patients were collected retrospectively, including titers of autoantibodies, electrodiagnostic studies, and clinical manifestations. Results. The neurologic manifestations of the SLE-LN patients were diverse and nonspecific. The prevalence rate of peripheral polyneuropathy was 2.68%, of which about 73.33% was mixed sensory-motor polyneuropathy. Numbness and functional gastrointestinal problems were the most prevalent symptoms and these were noted in every subtype of peripheral neuropathy. Among all the serology markers, anti-Ro was significantly associated with neuropathy related to SLE (P = 0.009). Conclusion. Peripheral neuropathy among LN patients is rare and may be easily overlooked. This study demonstrated that positive anti-Ro antibody may imply neuropathy in LN patients. Thus, anti-Ro can be considered a biomarker that should be added to the panel of conventional autoantibodies in LN patients. PMID:24864250

  10. Automated Software Analysis of Corneal Micrographs for Peripheral Neuropathy

    PubMed Central

    Pellegrini, Marco; Miller, Clayton; Epplin-Zapf, Thomas; Larkin, Sean; Luccarelli, Saverio; Staurenghi, Giovanni

    2010-01-01

    Purpose. A relationship has been reported between the presence of peripheral neuropathy and the density and shape of corneal nerve fibers. Peripheral neuropathy is a debilitating condition that arises from many common health problems, and its presence is often confirmed with an invasive clinical test called intramuscular electromyography (EMG). In this study, the possibility of developing an alternative or adjunct test to EMG based on the appearance of nerve fibers in corneal micrographs was explored. Since corneal imaging is virtually noninvasive compared with EMG, such a test may be administered more liberally and frequently, before neuropathy symptoms occur. Methods. A software program that automatically traces nerve fibers in corneal micrographs and generates measures based on these traces was implemented. This software was applied to a database of images collected by confocal laser scanning corneal microscopy from diabetic subjects whose levels of neuropathy were measured with EMG and from healthy subjects. Results. Trends in the nerve fiber density and various measures of shape were calculated and observed, to explore the possibility of using these measures as a clinical tool for corroborating symptoms, confirming an evaluation, or evaluating risk factors for developing neuropathy. Conclusions. Preliminary statistical trends show a potential for measuring and observing neuropathy severity or for providing an objective risk measure for a patient's ensuing condition. More work is needed in the development of the measures and in their testing to prove that the measures can be made repeatable in a clinical environment. PMID:20805570

  11. Orfeo, the Pleiades Accompaniment Program and its Users Thematic Commissioning

    NASA Astrophysics Data System (ADS)

    Tinel, C.; Grizonnet, M.; Fontannaz, D.; de Boissezon, H.; Giros, A.

    2012-08-01

    ORFEO, the PLEIADES Accompaniment Program, was set up by CNES, the French Space Agency, to prepare, accompany and promote the use and the exploitation of the images acquired by this Very High Resolution optical sensor. It was initiated in 2004 and will last until the end of the first year of the satellite life (launched in December 2011) . The Thematic part of the ORFEO accompaniment program covers a large range of applications, and aims at specifying and validating products and services required by users. An in-depth work of user needs assessments in eight thematic domains (sea and coastline, risks and humanitarian aid, cartography and urban planning, geophysical hazards, hydrology, forestry, agriculture and defence) has given rise to a large number of feasibility studies from 2006 to 2011. The Methodological Part of the ORFEO accompaniment program aims at preparing the use and exploitation of these submetric images. CNES decided to develop Orfeo Toolbox (OTB), an open source library capitalising the methodological know-how as a set of image processing and algorithmic components. Among other, OTB provides a number of heavily documented image processing functionalities such as filtering, feature extraction, segmentation, classification, change detection, 3D extraction, GIS links,.... As a conclusion to the ORFEO program, the PLEIADES Users Thematic Commissioning (UTC) started three months after the satellite launch and will last until mid 2013. It covers a large number of specific interest ORFEO sites, on which PLEIADES images are being intensively acquired and processed. These ORFEO sites have been chosen according to the expectations expressed by the users in terms of their interest for dedicated thematic, their geographic location and their multi-thematic content. This paper presents the ORFEO program achievements (thematic and methodology) and the organisation of the Users Thematic Commissioning (sites, studies). The paper is illustrated with some examples of multi-thematic studies, lead through ORFEO, covering a large range of applications, and aiming at validating value added products and services provided to end users from PLEIADES imagery.

  12. Hard Metal Alveolitis Accompanied by Rheumatoid Arthritis

    Microsoft Academic Search

    Paula A. Hahtola; Ritva E. Järvenpää; Kari Lounatmaa; Jorma J. Mattila; Immo Rantala; Jukka A. Uitti; Seppo Sutinen

    2000-01-01

    Hard metal lung diseases (HML) are rare, and complex to diagnose. We describe the case of a patient with allergic alveolitis accompanied by rheumatoid arthritis. A sharpener of hard metal by trade, our patient was a 45-year-old, nonsmoking Caucasian female who experienced symptoms of cough and phlegm, and dyspnea on exertion. Preliminary lung findings were inspiratory rales in both basal

  13. NOTES TO ACCOMPANY FLOWCHARTS PROGRESSION REGULATIONS

    E-print Network

    Wirosoetisno, Djoko

    NOTES TO ACCOMPANY FLOWCHARTS OF PROGRESSION REGULATIONS 1. These flowcharts are intended to help students and staff understand the implications of the progression regulations. Inevitably they use a form of `short-hand' and do not illustrate all the details of the progression regulations

  14. Treatment options for atypical optic neuritis

    PubMed Central

    Malik, Amina; Ahmed, Maryam; Golnik, Karl

    2014-01-01

    Context: Optic neuritis (ON) is defined as inflammation of the optic nerve and can have various etiologies. The most common presentation in the US is demyelinating, or “typical” ON, usually associated with multiple sclerosis. This is in contrast to “atypical” causes of ON, which differ in their clinical presentation, management, and prognosis. These atypical cases are characterized by lack of eye pain, exudates, and hemorrhages on exam, very severe, bilateral or progressive visual loss, or with failure to recover vision. Aims: The aim was to describe the clinical presentations of atypical ON and their treatments. Settings and Design: Review article. Materials and Methods: Literature review. Results: Types of atypical ON identified include neuromyelitis optica, autoimmune optic neuropathy, chronic relapsing inflammatory optic neuropathy, idiopathic recurrent neuroretinitis, and optic neuropathy associated with systemic diseases. Atypical ON usually requires corticosteroid treatment and often will require aggressive immunosuppression. Conclusions: Unlike demyelinating ON, atypical ON requires treatment to preserve vision. PMID:25449930

  15. Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues.

    PubMed

    Kamate, Mahesh; Ramakrishna, Shashikala; Kambali, Shweta; Mahadevan, Anita

    2014-01-01

    Giant axonal neuropathy (GAN) is a rare hereditary neurodegenerative disorder characterised by accumulation of excess neurofilaments in the axons of peripheral and central nervous systems, which hampers signal transmission. It usually manifests in infancy and early childhood and is slowly progressive. Those affected with GAN have characteristic curly kinky hair, everted feet and a crouched gait, which suggest the diagnosis in most cases. We describe twin children who presented with difficulty in walking and an abnormal gait since they began walking; clinical clues such as hair changes led us to the final diagnosis. PMID:25216920

  16. Neuropathy and paraproteins: review of a complex association.

    PubMed

    Rajabally, Y A

    2011-11-01

    Coexistence of neuropathy and monoclonal gammopathy represents a common but complex problem in clinical practice. This association is here reviewed considering latest available literature. The association is not infrequent, and various possible syndromes need to be distinguished. However, coincidental co-occurrence also needs to be recognized. The monoclonal gammopathy may be a 'monoclonal gammopathy of uncertain significance' (MGUS) or occur in a context of malignancy such as multiple myeloma or Waldenström's macroglobulinaemia. IgM paraproteins can bind to myelin-associated glycoprotein (MAG) in peripheral nerve. In this case, the paraprotein is directly linked to the neuropathy, causing a specific phenotype. One randomized controlled trial of this ('Anti-MAG') neuropathy showed possible moderate effect of rituximab on disability. Results of another trial are awaited. IgM/G/A paraproteins can be associated with a polyneuropathy indistinguishable from chronic inflammatory demyelinating polyneuropathy. Axonal neuropathies may coexist with IgM/G/A MGUS. There is insufficient evidence about causality or effective treatment in such cases. Pain/dysautonomia with an axonal neuropathy and serum paraprotein raises the possibility of amyloidosis. Specific haematological treatment is required for malignant disorders, although caution is required with neurotoxic agents. Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome and chronic ataxic neuropathy with ophthalmoplegia, M-protein, cold agglutinins and disialosyl antibodies represent rare separate entities for which evidence-based treatment options are still lacking. The association of monoclonal gammopathy and neuropathy requires the appropriate neurological/haematological investigations for a precise diagnosis. Causality is only established in few cases. Adequate management ideally requires joint neurological/haematological input for diagnosis, monitoring and treatment. PMID:21418441

  17. Mechanical surface waves accompany action potential propagation.

    PubMed

    El Hady, Ahmed; Machta, Benjamin B

    2015-01-01

    Many diverse studies have shown that a mechanical displacement of the axonal membrane accompanies the electrical pulse defining the action potential (AP). We present a model for these mechanical displacements as arising from the driving of surface wave modes in which potential energy is stored in elastic properties of the neuronal membrane and cytoskeleton while kinetic energy is carried by the axoplasmic fluid. In our model, these surface waves are driven by the travelling wave of electrical depolarization characterizing the AP, altering compressive electrostatic forces across the membrane. This driving leads to co-propagating mechanical displacements, which we term Action Waves (AWs). Our model allows us to estimate the shape of the AW that accompanies any travelling wave of voltage, making predictions that are in agreement with results from several experimental systems. Our model can serve as a framework for understanding the physical origins and possible functional roles of these AWs. PMID:25819404

  18. Management of chemotherapy-induced peripheral neuropathy.

    PubMed

    Stillman, Mark; Cata, Juan P

    2006-08-01

    Recent advances in the development and administration of chemotherapy for malignant diseases have been rewarded with prolonged survival rates. The cost of progress has come at a price and the nervous system is frequently the target of chemotherapy-induced neurotoxicity. Unlike more immediate toxicities that effect the gastrointestinal tract and bone marrow, chemotherapy-induced neurotoxicity is frequently delayed in onset and may progress over time. In the peripheral nervous system, the major brunt of the toxicity is directed against the peripheral nerve, resulting in chemotherapy-induced peripheral neuropathy (CIPN). Chemotherapeutic agents used to treat hematologic and solid tumors target a variety of structures and functions in the peripheral nervous system, including the neuronal cell body, the axonal transport system, the myelin sheath, and glial support structures. Each agent exhibits a spectrum of toxic effects unique to its mechanism of toxic injury, and recent study in this field has yielded clearer ideas on how to mitigate injury. Combined with the call for a greater recognition of the potentially devastating ramifications of CIPN on quality of life, basic and clinical researchers have begun to investigate therapy to prevent neurotoxic injury. Preliminary studies have shown promise for some agents including glutamine, glutathione, vitamin E, acetyl-L-carnitine, calcium, and magnesium infusions, but final recommendations await prospective confirmatory studies. PMID:16834943

  19. Micturition disturbance in acute idiopathic autonomic neuropathy

    PubMed Central

    Sakakibara, R; Uchiyama, T; Asahina, M; Suzuki, A; Yamanishi, T; Hattori, T

    2004-01-01

    Objective: To define the nature of micturition disturbance in patients with acute idiopathic autonomic neuropathy (AIAN). Methods: Micturitional symptoms were observed during hospital admissions and the in outpatient clinics in six patients with clinically definite AIAN (typical form in four, cholinergic variant in one, autonomic-sensory variant in one). Urodynamic studies included medium-fill water cystometry, external sphincter electromyography, and a bethanechol test. Results: Four patients had urinary retention and two had voiding difficulty as the initial presentation. Patients with retention became able to urinate within a week (two to seven days). The major symptoms at the time of urodynamic studies (three weeks to four months after disease onset in most cases) were voiding difficulty and nocturnal frequency. None had urinary incontinence. Complete recovery from the micturition disturbance took from three months to >18 years. The recovery period was shorter in a patient with cholinergic variant, and it was longer in two patients who had a longer duration of initial urinary retention. Micturition disturbance tended to improve earlier than orthostatic hypotension. The major urodynamic abnormalities were detrusor areflexia on voiding (5), denervation supersensitivity to bethanechol (3); low compliance detrusor (1); and impaired bladder sensation (2). None had neurogenic motor unit potentials of the external sphincter muscles. Conclusions: In patients with AIAN, urinary retention and voiding difficulty are common initial presentations. The underlying mechanisms seem to be pre- and postganglionic cholinergic dysfunction with preservation of somatic sphincter function. The bladder problems tend to improve earlier than orthostatic hypotension. PMID:14742606

  20. Phenotypic variability of TRPV4 related neuropathies

    PubMed Central

    Evangelista, Teresinha; Bansagi, Boglarka; Pyle, Angela; Griffin, Helen; Douroudis, Konstantinos; Polvikoski, Tuomo; Antoniadi, Thalia; Bushby, Kate; Straub, Volker; Chinnery, Patrick F.; Lochmüller, Hanns; Horvath, Rita

    2015-01-01

    Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot–Marie–Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in two unrelated patients with two novel heterozygous missense mutations in the TRPV4 gene. Whole exome sequencing was carried out on genomic DNA using Illumina TruseqTM 62Mb exome capture. Patient 1 harbours a de novo c.805C?>?T (p.Arg269Cys) mutation. Clinically, this patient shows signs of both scapuloperoneal spinal muscular atrophy and skeletal dysplasia. Patient 2 harbours a novel c.184G?>?A (p.Asp62Asn) mutation. While the clinical phenotype is compatible with CMT type 2C with the patient's muscle harbours basophilic inclusions. Mutations in the TRPV4 gene have a broad phenotypic variability and disease severity and may share a similar pathogenic mechanism with Heat Shock Protein related neuropathies. PMID:25900305

  1. Phenotypic variability of TRPV4 related neuropathies.

    PubMed

    Evangelista, Teresinha; Bansagi, Boglarka; Pyle, Angela; Griffin, Helen; Douroudis, Konstantinos; Polvikoski, Tuomo; Antoniadi, Thalia; Bushby, Kate; Straub, Volker; Chinnery, Patrick F; Lochmüller, Hanns; Horvath, Rita

    2015-06-01

    Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot-Marie-Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in two unrelated patients with two novel heterozygous missense mutations in the TRPV4 gene. Whole exome sequencing was carried out on genomic DNA using Illumina Truseq(TM) 62Mb exome capture. Patient 1 harbours a de novo c.805C?>?T (p.Arg269Cys) mutation. Clinically, this patient shows signs of both scapuloperoneal spinal muscular atrophy and skeletal dysplasia. Patient 2 harbours a novel c.184G?>?A (p.Asp62Asn) mutation. While the clinical phenotype is compatible with CMT type 2C with the patient's muscle harbours basophilic inclusions. Mutations in the TRPV4 gene have a broad phenotypic variability and disease severity and may share a similar pathogenic mechanism with Heat Shock Protein related neuropathies. PMID:25900305

  2. NEUROPATHY TARGET ESTERASE INHIBITION BY ORGANOPHOSPHORUS ESTERS IN HUMAN NEUROBLASTOMA CELLS

    EPA Science Inventory

    Certain organophosphorus compounds (OPs) produce a delayed neuropathy (OPIDN) in man and some animal species. apability to cause OPIDN is generally predicted in animal models by early and irreversible inhibition of neuropathy target esterase (NTE, neurotoxic esterase) . In this s...

  3. A Small Molecule Modulator of Hsp90 Improves Experimental Diabetic Neuropathy

    E-print Network

    Urban, Michael Joseph

    2010-07-30

    response through Hsp90 modulation could decrease or reverse the pathophysiological progression of diabetic peripheral neuropathy in Type-1 diabetic mice. Hypothesis: A small molecule modulator of Hsp90 will improve experimental diabetic neuropathy. Methods...

  4. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    PubMed Central

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome. PMID:25506011

  5. Prevention of paclitaxel-induced peripheral neuropathy by lithium pretreatment

    PubMed Central

    Mo, Michelle; Erdelyi, Ildiko; Szigeti-Buck, Klara; Benbow, Jennifer H.; Ehrlich, Barbara E.

    2012-01-01

    Chemotherapy-induced peripheral neuropathy (CIPN) is a debilitating side effect that occurs in many patients undergoing chemotherapy. It is often irreversible and frequently leads to early termination of treatment. In this study, we have identified two compounds, lithium and ibudilast, that when administered as a single prophylactic injection prior to paclitaxel treatment, prevent the development of CIPN in mice at the sensory-motor and cellular level. The prevention of neuropathy was not observed in paclitaxel-treated mice that were only prophylactically treated with a vehicle injection. The coadministration of lithium with paclitaxel also allows for administration of higher doses of paclitaxel (survival increases by 60%), protects against paclitaxel-induced cardiac abnormalities, and, notably, does not interfere with the antitumor effects of paclitaxel. Moreover, we have determined a mechanism by which CIPN develops and have discovered that lithium and ibudilast inhibit development of peripheral neuropathy by disrupting the interaction between paclitaxel, neuronal calcium sensor 1 (NCS-1), and the inositol 1,4,5-trisphosphate receptor (InsP3R) to prevent treatment-induced decreases in intracellular calcium signaling. This study shows that lithium and ibudilast are candidate therapeutics for the prevention of paclitaxel-induced neuropathy and could enable patients to tolerate more aggressive treatment regimens.—Mo, M., Erdelyi, I., Szigeti-Buck, K., Benbow, J. H., Ehrlich, B. E. Prevention of paclitaxel-induced peripheral neuropathy by lithium pretreatment. PMID:22889832

  6. Incidence of common compressive neuropathies in primary care

    PubMed Central

    Latinovic, R; Gulliford, M C; Hughes, R A C

    2006-01-01

    Apart from carpal tunnel syndrome, there are no population based studies of the epidemiology of compressive neuropathies. To provide this information, new presentations of compressive neuropathies among patients registered with 253 general practices in the UK General Practice Research Database with 1.83 million patient years at risk in 2000 were analysed. The study revealed that in 2000 the annual age standardised rates per 100?000 of new presentations in primary care were: carpal tunnel syndrome, men 87.8/women 192.8; Morton's metatarsalgia, men 50.2/women 87.5; ulnar neuropathy, men 25.2/women 18.9; meralgia paraesthetica, men 10.7/women 13.2; and radial neuropathy, men 2.97/women 1.42. New presentations were most frequent at ages 55–64 years except for carpal tunnel syndrome, which was most frequent in women aged 45–54 years, and radial nerve palsy, which was most frequent in men aged 75–84 years. In 2000, operative treatment was undertaken for 31% of new presentations of carpal tunnel syndrome, 3% of Morton's metatarsalgia, and 30% of ulnar neuropathy. PMID:16421136

  7. Lipid peroxides in type 2 diabetic patients with neuropathy.

    PubMed

    Migdalis, I N; Triantafilou, P; Petridou, E; Varvarigos, N; Totolos, V; Rigopoulos, A

    2005-01-01

    Diabetes and its metabolic changes in peripheral nerves contribute to cause a decrease of nitric oxide production and diminished nerve blood flow. Since lipid peroxides are thought to be formed by free radicals and may play an important role in the development of vascular disease, we have investigated the possible relationship between lipid peroxides (measured as thiobarbitouric acid reacting substances (TBARS) in diabetic patients with peripheral neuropathy. Seventy-seven patients with Type 2 diabetes (39 neuropathic and 38 non-neuropathic) and 38 control subjects were studied. The neuropathy study group had significantly lower levels of TBARS, 3.5micromol/l (2.2-5.6, 95% confidence limits) compared to controls 4.5microm/l (3.08-6.8), p < 0.001 and to diabetics without neuropathy 4.9micromol/l (3.09-8.05), p < 0.001. No differences were found in metabolic control between the two diabetic groups. In the neuropathy group there was a negative correlation between the score for nerve dysfunction with the TBARS levels (r = - 0.42, p < 0.01). In conclusion, in diabetic patients with neuropathy there are abnormalities of TBARS levels. PMID:18426075

  8. Pupillography refines the diagnosis of diabetic autonomic neuropathy.

    PubMed

    Dütsch, Matthias; Marthol, Harald; Michelson, Georg; Neundörfer, Bernhard; Hilz, Max Josef

    2004-07-15

    Although diabetic autonomic neuropathy involves most organs, diagnosis is largely based on cardiovascular tests. Light reflex pupillography (LRP) non-invasively evaluates pupillary autonomic function. We tested whether LRP demonstrates autonomic pupillary dysfunction in diabetics independently from cardiac autonomic neuropathy (CAN) or peripheral neuropathy (PN). In 36 type-II diabetics (39-84 years) and 36 controls (35-78 years), we performed LRP. We determined diameter (PD), early and late re-dilation velocities (DV) as sympathetic parameters and reflex amplitude (RA) and constriction velocity (CV) as parasympathetic pupillary indices. We assessed the frequency of CAN using heart rate variability tests and evaluated the frequency of PN using neurological examination, nerve conduction studies, thermal and vibratory threshold determination. Twenty-eight (77.8%) patients had abnormal pupillography results, but only 20 patients (56%) had signs of PN or CAN. In nine patients with PN, only pupillography identified autonomic neuropathy. Four patients had pupillary dysfunction but no CAN or PN. In comparison to controls, patients had reduced PD, late DV, RA and CV indicating sympathetic and parasympathetic dysfunction. The incidence and severity of pupillary abnormalities did not differ between patients with and without CAN or PN. LRP demonstrates sympathetic and parasympathetic pupillary dysfunction independently from PN or CAN and thus refines the diagnosis of autonomic neuropathy in type-II diabetics. PMID:15240199

  9. PGC-1? Regulation of Mitochondrial Degeneration in Experimental Diabetic Neuropathy

    PubMed Central

    Choi, Joungil; Chandrasekaran, Krish; Inoue, Tatsuya; Muragundla, Anjaneyulu; Russell, James W.

    2014-01-01

    Mitochondrial degeneration is considered to play an important role in the development of diabetic peripheral neuropathy in humans. Mitochondrial degeneration and the corresponding protein regulation associated with the degeneration were studied in an animal model of diabetic neuropathy. PGC-1? and its-regulated transcription factors including TFAM and NRF1, which are master regulators of mitochondrial biogenesis, are significantly downregulated in streptozotocin diabetic dorsal root ganglion (DRG) neurons. Diabetic mice develop peripheral neuropathy, loss of mitochondria, decreased mitochondrial DNA content and increased protein oxidation. Importantly, this phenotype is exacerbated in PGC-1? (?/?) diabetic mice, which develop a more severe neuropathy with reduced mitochondrial DNA and a further increase in protein oxidation. PGC-1? (?/?) diabetic mice develop an increase in total cholesterol and triglycerides, and a decrease in TFAM and NRF1 protein levels. Loss of PGC-1? causes severe mitochondrial degeneration with vacuolization in DRG neurons, coupled with reduced state 3 and 4 respiration, reduced expression of oxidative stress response genes and an increase in protein oxidation. In contrast, overexpression of PGC-1? in cultured adult mouse neurons prevents oxidative stress associated with increased glucose levels. The study provides new insights into the role of PGC-1? in mitochondrial regeneration in peripheral neurons and suggests that therapeutic modulation of PGC-1? function may be an attractive approach for treatment of diabetic neuropathy. PMID:24423644

  10. Diabetic Neuropathies: Update on Definitions, Diagnostic Criteria, Estimation of Severity, and Treatments

    PubMed Central

    Tesfaye, Solomon; Boulton, Andrew J.M.; Dyck, Peter J.; Freeman, Roy; Horowitz, Michael; Kempler, Peter; Lauria, Giuseppe; Malik, Rayaz A.; Spallone, Vincenza; Vinik, Aaron; Bernardi, Luciano; Valensi, Paul

    2010-01-01

    Preceding the joint meeting of the 19th annual Diabetic Neuropathy Study Group of the European Association for the Study of Diabetes (NEURODIAB) and the 8th International Symposium on Diabetic Neuropathy in Toronto, Canada, 13–18 October 2009, expert panels were convened to provide updates on classification, definitions, diagnostic criteria, and treatments of diabetic peripheral neuropathies (DPNs), autonomic neuropathy, painful DPNs, and structural alterations in DPNs. PMID:20876709

  11. Pyridoxine-induced toxicity in rats: a stereological quantification of the sensory neuropathy

    Microsoft Academic Search

    Tracy Ann Perry; Ananda Weerasuriya; Peter R. Mouton; Harold W. Holloway; Nigel H. Greig

    2004-01-01

    Excess ingestion of pyridoxine (vitamin B6) causes a severe sensory neuropathy in humans. The mechanism of action has not been fully elucidated, and studies of pyridoxine neuropathy in experimental animals have yielded disparate results. Pyridoxine intoxication appears to produce a neuropathy characterized by necrosis of dorsal root ganglion (DRG) sensory neurons and degeneration of peripheral and central sensory projections, with

  12. Symptomatic diabetic and non-diabetic neuropathies in a series of 100 diabetic patients.

    PubMed

    Lozeron, Pierre; Nahum, Laurence; Lacroix, Catherine; Ropert, Angčle; Guglielmi, Jean-Marc; Said, Gérard

    2002-05-01

    We have reviewed the clinical and pathological data of a series of 100 consecutive diabetic patients with symptomatic neuropathy in order to learn more about the causes of neuropathy in this population and on the signs and symptoms that could suggest another cause than diabetes in this setting. After diagnostic procedures, patients were assigned one (at most two) of a final total of 18 different causes of neuropathy. Diabetes accounted for 74 % of the neuropathies in the whole group of patients and for 79 % of those with a fiber length dependent pattern of neuropathy. One third of patients had a neuropathy unrelated to diabetes. As a group, 71 % of the patients presented either a length dependent diabetic polyneuropathy (LDDP) or a proximal diabetic neuropathy (PDN). The LDDP group was biased towards more severely affected patients owing to our specialization. Conversely, most patients with proximal diabetic neuropathy had usual features. Chronic inflammatory demyelinating neuropathy that was diagnosed in 9 % of the patients was the most common non-diabetic cause of neuropathy in this population. We conclude that a short interval between diagnosis of diabetes and the onset of the neuropathy, early motor deficit, markedly asymmetrical deficit and generalized areflexia, which are all uncommon in the LDDP, argue in favor of a non diabetic origin of the neuropathy and should lead to further investigation. PMID:12021947

  13. Immediate heart-rate response to standing: simple test for autonomic neuropathy in diabetes

    Microsoft Academic Search

    D J Ewing; I W Campbell; A Murray; J M Neilson; B F Clarke

    1978-01-01

    The immediate heart-rate response to standing was measured in 22 normal controls and 25 patients with diabetes, 15 of whom had autonomic neuropathy. The response in the controls and patients without autonomic neuropathy was characteristic and consistent, with tachycardia maximal at around the 15th beat and relative bradycardia maximal at around the 30th beat. The diabetics with autonomic neuropathy, however,

  14. Pyridoxine induced neuropathy by subcutaneous administration in dogs

    PubMed Central

    Chung, Jin-Young; Choi, Jung-Hoon; Hwang, Cheol-Yong

    2008-01-01

    To construct a sensory neuropathy model, excess pyridoxine (150 mg/kg s.i.d.) was injected subcutaneously in dogs over a period of 7 days. During the administrations period, the dogs experienced body weight reduction and proprioceptive loss involving the hindquarters. After pyridoxine administration was completed, electrophysiological recordings showed that the M wave remained at a normal state, but the H-reflex of the treated dogs disappeared at 7 days. The dorsal funiculus of L4 was disrupted irregularly in the axons and myelin with vacuolation. The dorsal root ganglia of L4, and sciatic and tibial nerves showed degenerative changes and vacuolation. However, the lateral and ventral funiculi of L4 showed a normal histopathologic pattern. Although this subcutaneous administration method did not cause systemic toxicity and effectively induced sensory neuropathy, this study confirmed the possibility of producing a pyridoxine-induced sensory neuropathy model in dogs with short-term administration. PMID:18487933

  15. Epidermal Nerve Fiber Quantification in the Assessment of Diabetic Neuropathy

    PubMed Central

    Beiswenger, Kristina K.; Calcutt, Nigel A.; Mizisin, Andrew P.

    2008-01-01

    Summary Assessment of cutaneous innervation in skin biopsies is emerging as a valuable means of both diagnosing and staging diabetic neuropathy. Immunolabeling, using antibodies to neuronal proteins such as protein gene product 9.5, allows for the visualization and quantification of intraepidermal nerve fibers. Multiple studies have shown reductions in intraepidermal nerve fiber density in skin biopsies from patients with both type 1 and type 2 diabetes. More recent studies have focused on correlating these changes with other measures of diabetic neuropathy. A loss of epidermal innervation similar to that observed in diabetic patients has been observed in rodent models of both type 1 and type 2 diabetes and several therapeutics have been reported to prevent reductions in intraepidermal nerve fiber density in these models. This review discusses the current literature describing diabetes-induced changes in cutaneous innervation in both human and animal models of diabetic neuropathy. PMID:18384843

  16. The pathological basis of conduction block in human neuropathies.

    PubMed Central

    Feasby, T E; Brown, W F; Gilbert, J J; Hahn, A F

    1985-01-01

    Conduction block was detected in patients with neuropathy by measuring a decrease in the size of the compound muscle action potential of more than 20% on proximal versus distal stimulation of the peroneal, median or ulnar nerve in the absence of excess temporal dispersion of the potential. The teased fibre analyses of nerve biopsies from four patients with "definite" and six patients with "probable" conduction block and from seven patients with neuropathy but without conduction block were compared. All patients with conduction block had significant demyelination (X% demyelinated and remyelinated fibres = 50%) while those without conduction block did not (X = 5.0%). Demyelination is the pathological basis of conduction block in human neuropathies. PMID:3981192

  17. Image analysis software for following progression of peripheral neuropathy

    NASA Astrophysics Data System (ADS)

    Epplin-Zapf, Thomas; Miller, Clayton; Larkin, Sean; Hermesmeyer, Eduardo; Macy, Jenny; Pellegrini, Marco; Luccarelli, Saverio; Staurenghi, Giovanni; Holmes, Timothy

    2009-02-01

    A relationship has been reported by several research groups [1 - 4] between the density and shapes of nerve fibers in the cornea and the existence and severity of peripheral neuropathy. Peripheral neuropathy is a complication of several prevalent diseases or conditions, which include diabetes, HIV, prolonged alcohol overconsumption and aging. A common clinical technique for confirming the condition is intramuscular electromyography (EMG), which is invasive, so a noninvasive technique like the one proposed here carries important potential advantages for the physician and patient. A software program that automatically detects the nerve fibers, counts them and measures their shapes is being developed and tested. Tests were carried out with a database of subjects with levels of severity of diabetic neuropathy as determined by EMG testing. Results from this testing, that include a linear regression analysis are shown.

  18. Auditory Neuropathy/Dys-synchrony and Its Perceptual Consequences

    PubMed Central

    Rance, Gary

    2005-01-01

    Auditory neuropathy/dys-synchrony is a form of hearing impairment in which cochlear outer hair cell function is spared but neural transmission in the auditory pathway is disordered. This condition, or group of conditions with a common physiologic profile, accounts for approximately 7% of permanent childhood hearing loss and a significant (but as yet undetermined) proportion of adult impairment. This paper presents an overview of the mechanisms underlying auditory neuropathy/dys-synchrony-type hearing loss and the clinical profile for affected patients. In particular it examines the perceptual consequences of auditory neuropathy/dys-synchrony, which are quite different from those associated with sensorineural hearing loss, and considers currently available, and future management options. PMID:15920648

  19. Vesiculobullous dermatomyositis with sensory motor neuropathy.

    PubMed

    Ayhan, Erhan; Baykara, Sule Nergiz; Ozekinci, Selver; Aytekin, Sema

    2013-01-01

    A 74-year-old man presented with muscle weakness in both legs for a duration of 2 months. Physical examination revealed periorbital edema and erythema, erythema on the neck and chest, erythematous papules on the proximal-distal interphalangeal and metocarpophalangeal joints, crusted plaque lesions on the thighs and around the knees, and bullous and ulcerated lesions in the antecubital and popliteal fossae (Figure 1A and 1B). Some bullous lesions were intact and some were ulcerated. There was severe edema especially in the upper extremities. He had a history of 15-kg weight loss for 4 months. Laboratory findings were remarkable for a white blood cell count of 16.0 K/UL (4.60-10.20 K/UL), a C-reactive protein of 6.93 mg/dL (0-0.5 mg/dL), an erythrocyte sedimentation rate of 50 mm/h (8-15 mm/h), an aspartate aminotransferase level of 213 U/L (10-40 U/L), a lactate dehydrogenase of 447 U/L (< 225 U/L), and a creatine kinase level of 1733 U/L (29-200 U/L). Results from antinuclear antibody at 1:320 titers and anti-smooth muscle antibody were positive. Results from anti-SS A/SS B antibodies, anti Jo-1 antibody, U1-snRNP antibody, and anti-ds DNA antibody tests were negative. A skin biopsy specimen obtained from the right antecubital fossa showed minimal orthokeratosis and subepidermal detachments. There was marked edema in the dermis and lymphocyte infiltration around the skin appendages (Figure 2). Direct immunofluorescence studies demonstrated scattered staining for C3 and IgM at the basal membrane zone. Results for IgG, IgA, and fibrin staining were negative. Muscle biopsy from left deltoid muscle was performed and some muscle fibers were demonstrated to be atrophied. There was remarkable difference between muscle fiber diameters. With Masson staining, there was increased connective tissue and no inflammation. Electromyography (EMG) showed a myogenic pattern. Nerve conduction studies showed tibial, median, ulnar, peroneal motor neuropathy, and median, ulnar, and sural sensory neuropathy. Based on these findings, diagnosis of vesiculo-bullous dermatomyositis (DM) was made. Further investigation of esophagogastroduodenoscopy with biopsy revealed ulcerated lesions on antrum and corpus and these were assessed as Helicobacter pylori-negative atrophic chronic gastritis. No pathologic findings were described on chest, abdomen, and pelvic tomography. Levels of tumor markers were within normal ranges. Overall, no sign of malignancy was detected. Methyl prednisolone treatment of 1 mg/kg/d was started; however, new bullous lesions erupted while the original lesions were healing. PMID:23930362

  20. Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India

    PubMed Central

    Bindu, P; Mahadevan, A; Taly, A; Christopher, R; Gayathri, N; Shankar, S

    2005-01-01

    Background: There is a paucity of literature from India on metachromatic leucodystrophy (MLD), a rare metabolic disorder of childhood resulting from aryl sulfatase A (ASA) deficiency. Patients/Methods: Case records of histopathologically verified cases of MLD, evaluated over a period of 12 years at the National Institute of Mental Health and Neurosciences, Bangalore, India, were reviewed. Results: The late infantile group (36) manifested with regression of milestones (all), delayed mile stones (14), gait abnormalities (14), and seizures (11). Despite spasticity (29), there was hypo/areflexia in 25 patients. Optic atrophy (six) was rare. Consanguinity was noted in 25 children and four had a history of similar illness in siblings. Behavioural problems dominated in the juvenile group (four), but associated cognitive decline and hyporeflexia provided a clue to the diagnosis. Low serum ASA (seven of 20), raised cerebrospinal fluid protein (five of 12), and urinary metachromatic granules (two of 32) were infrequent. Electrophysiological evidence of severe demyelinating and length dependent sensory motor neuropathy was observed in all, even in the presence of hyper-reflexia. In addition to metachromatic dysmyelinating neuropathy in all patients, sural nerve biopsy in 20 patients revealed orthochromatic deposits within perivascular macrophages, particularly among those patients with normal ASA values (11 of 14), suggesting the accumulation of other glycosphingolipids. Conclusions: This study produced some noteworthy observations: the high degree of consanguinity associated with MLD in India, the existence of MLD with normal serum concentrations of ASA, the deposition of orthochromatic lipids, and electrophysiological evidence of a partial conduction block. PMID:16291896

  1. Small fiber dysfunction predominates in Fabry neuropathy.

    PubMed

    Dütsch, M; Marthol, H; Stemper, B; Brys, M; Haendl, T; Hilz, M J

    2002-12-01

    Fabry disease is an X-linked recessive disease with a reduction of lysosomal alpha galactosidase A and consecutive storage of glycolipids e.g., in the brain, kidney, skin, and nerve fibers. Cardinal neurologic findings are hypohidrosis, painful episodes, and peripheral neuropathy. So far, the neurophysiological findings regarding the extent of large and small fiber dysfunction are contradictory. This study evaluated large and small nerve fiber function in a homogeneous group of Fabry patients. In 24 of 30 Fabry patients with creatinine below 194.7 mmol/L the authors assessed median, ulnar, and peroneal motor conduction velocity (MCV) and median, ulnar, and sural sensory conduction velocity (SCV) nerve conduction to study the function of thickly myelinated nerve fibers. In addition, the authors studied sympathetic skin responses (SSR) at both hands and feet in 24 patients. To evaluate A beta nerve fiber function, the authors determined vibratory detection thresholds (VDT) at the first toe in 30 patients. Function of A delta and C fibers was assessed by quantitative sensory testing of cold detection threshold (CDT) and heat-pain detection thresholds (HPDT). Nerve conduction studies showed significantly decreased amplitudes of MCVs and SCVs in Fabry patients as compared to controls. However, individual results of MCV and SCV studies were only mildly impaired. SSRs were present in all tested patients but SSR amplitudes were significantly decreased in Fabry patients in comparison to controls. VDT, CDT, and HPDT were significantly elevated in Fabry patients as compared to controls. However, only six patients had pathologic VDT, 19 had increased CDT, and 25 had elevated HPDT at a high level of stimulation. In Fabry patients, small fiber dysfunction is more prominent than large fiber dysfunction, confirming previous findings of sural nerve biopsies. The results suggest a higher vulnerability of small-diameter nerve fibers than of the thickly myelinated fibers. PMID:12488789

  2. Painful neuropathies: the emerging role of sodium channelopathies.

    PubMed

    Brouwer, Brigitte A; Merkies, Ingemar S J; Gerrits, Monique M; Waxman, Stephen G; Hoeijmakers, Janneke G J; Faber, Catharina G

    2014-06-01

    Pain is a frequent debilitating feature reported in peripheral neuropathies with involvement of small nerve (A? and C) fibers. Voltage-gated sodium channels are responsible for the generation and conduction of action potentials in the peripheral nociceptive neuronal pathway where NaV 1.7, NaV 1.8, and NaV 1.9 sodium channels (encoded by SCN9A, SCN10A, and SCN11A) are preferentially expressed. The human genetic pain conditions inherited erythromelalgia and paroxysmal extreme pain disorder were the first to be linked to gain-of-function SCN9A mutations. Recent studies have expanded this spectrum with gain-of-function SCN9A mutations in patients with small fiber neuropathy and in a new syndrome of pain, dysautonomia, and small hands and small feet (acromesomelia). In addition, painful neuropathies have been recently linked to SCN10A mutations. Patch-clamp studies have shown that the effect of SCN9A mutations is dependent upon the cell-type background. The functional effects of a mutation in dorsal root ganglion (DRG) neurons and sympathetic neuron cells may differ per mutation, reflecting the pattern of expression of autonomic symptoms in patients with painful neuropathies who carry the mutation in question. Peripheral neuropathies may not always be length-dependent, as demonstrated in patients with initial facial and scalp pain symptoms with SCN9A mutations showing hyperexcitability in both trigeminal ganglion and DRG neurons. There is some evidence suggesting that gain-of-function SCN9A mutations can lead to degeneration of peripheral axons. This review will focus on the emerging role of sodium channelopathies in painful peripheral neuropathies, which could serve as a basis for novel therapeutic strategies. PMID:25250524

  3. Unilateral Pedicle Fracture Accompanying Spondylolytic Spondylolisthesis

    PubMed Central

    Kim, Hyeun Sung; Ju, Chang Il; Kim, Yun Sung

    2015-01-01

    Unilateral pedicle stress fracture accompanying spondylolytic spondylolisthesis is rare even in the elderly. Most are associated with major trauma, previous spine surgery, or stress-related activity. Here, the authors describe an unique case of unilateral pedicle fracture associated with spondylolytic spondylolisthesis at the L5 level, which was successfully treated by posterior lumbar interbody fusion with screw fixation at the L5-S1 level. As far as the authors' knowledge, no such case has been previously reported in the literature. The pathophysiological mechanism of this uncommon entity is discussed and a review of relevant literature is included. PMID:26180621

  4. A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

    PubMed

    Kochanski, A; Drac, H; Kabzi?ska, D; Ryniewicz, B; Rowi?ska-Marci?ska, K; Nowakowski, A; Hausmanowa-Petrusewicz, I

    2004-06-01

    Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait. Sural nerve biopsy shows a characteristic picture of nonmyelinated and poorly myelinated axons with basal lamina onion bulbs and lack of myelin breakdown products. Several mutations in the MTMR2, PMP22, EGR2, and MPZ genes have been found in patients with CHN. The authors describe the clinical and morphologic features of a patient with CHN and the identification of a novel Thr124Lys mutation in the MPZ gene. PMID:15184631

  5. Subacute multicranial neuropathy revealing an early case of meningeal syphilis.

    PubMed

    Casolla, Barbara; Ristori, Giovanni; Romano, Andrea; Bozzao, Alessandro; Orzi, Francesco

    2015-06-01

    We report a case of neurosyphilis presenting with meningitis and subacute multicranial neuropathy in a young immune-competent man. Signs of primary and secondary stages of syphilitic infection occurred almost contemporarily in our patient. MRI revealed the involvement of several cranial nerves. CSF examination proved to be diagnostic. Syphilitic meningitis should be considered among the differential diagnoses of subacute, multicranial neuropathy, or skull base meningitis. The clinical course of this patient shows that early diagnosis and treatment warrant a good neurological outcome. PMID:25739944

  6. Severe Acute Orthopnea: Ipilimumab-Induced Bilateral Phrenic Nerve Neuropathy.

    PubMed

    Jinnur, Praveen; Lim, Kaiser G

    2015-08-01

    Ipilimumab is a monoclonal antibody used in the treatment of unresectable or metastatic melanoma. Several immune-related adverse events including potential fatal events have been reported following its use. We report a case of a 66-year-old man who presented with severe acute exertional dyspnea and orthopnea following administration of ipilimumab for metastatic melanoma. Although various peripheral neuropathy syndromes associated with ipilimumab have been reported, bilateral phrenic nerve paralysis has not been previously reported. This case also highlights the clinical features of bilateral phrenic nerve neuropathy. Pulmonologists have to be aware of these unusual immune-related respiratory adverse events in patients being treated with monoclonal antibodies. PMID:25956728

  7. Membranous glomerulonephritis associated with inflammatory demyelinating peripheral neuropathies.

    PubMed

    Panjwani, M; Truong, L D; Eknoyan, G

    1996-02-01

    A 55-year-old man with chronic inflammatory demyelinating polyradiculoneuropathy developed the nephrotic syndrome. Renal biopsy showed stage I membranous glomerulonephritis. Review of the literature revealed the association of these two rare syndromes, considered to be due to immunologic dysfunction, in two other cases, as well as several cases of the acute form of demyelinating peripheral polyradiculoneuropathy. The nephrotic syndrome appears to be persistent in the chronic form of the peripheral neuropathy but reversible in its acute form following immunosuppressive therapy. The possibility of a common immunopathogenesis in the association of membranous glomerulonephritis and inflammatory demyelinating peripheral neuropathies deserves further scrutiny. PMID:8659507

  8. Autonomic Involvement in Subacute and Chronic Immune-Mediated Neuropathies

    PubMed Central

    Mazzeo, Anna; Stancanelli, Claudia; Vita, Giuseppe

    2013-01-01

    Autonomic function can be impaired in many disorders in which sympathetic, parasympathetic, and enteric arms of the autonomic nervous system are affected. Signs and symptoms of autonomic involvement are related to impairment of cardiovascular, gastrointestinal, urogenital, thermoregulatory, sudomotor, and pupillomotor autonomic functions. Availability of noninvasive, sensitive, and reproducible tests can help to recognize these disorders and to better understand specific mechanisms of some, potentially treatable, immune-mediated autonomic neuropathies. This paper describes autonomic involvement in immune-mediated neuropathies with a subacute or chronic course. PMID:23853716

  9. [Uremic neuropathy--I. Is uremic neuropathy related to patient age, duration of nephropathy and dialysis treatment?].

    PubMed

    Jedras, M; Zakrzewska-Pniewska, B; Wardyn, K; Switalski, M

    1998-06-01

    The aim of the study was to analyse the relationship between clinical and electrophysiological features of uremic neuropathy and age of patients, duration of kidney disease, renal failure and dialysis treatment. 51 patients with end-stage renal failure without diabetes were examined. Apart from a basic neurological examination, conduction velocities in the sural and tibial nerves were determined, and in order to assess the function of the autonomic nervous system, R-R interval variation and sympathetic skin response were tested. In majority of patients, symptoms and signs of sensorimotor neuropathy were found, and about 50% of them had dysautonomia. A negative correlation between age and R-R interval variation was observed. No relationship was found between neuropathy and the duration of nephropathy, duration of renal nor dialysis treatment. PMID:10085699

  10. Breakdown and acoustic effects accompanying nonlinear propagation of intense laser pulses in the atmosphere

    Microsoft Academic Search

    Yurii D. Kopytin; Liliya K. Chistyakova; Ludmila G. Shamanaeva

    1994-01-01

    Optical breakdown is of importance from the viewpoint of determination of maximum energy of high-power lasers which the atmosphere can withstand as a medium of propagation. In this work we generalize the results of our investigations of the development of laser-induced breakdown in the turbulent atmosphere containing background concentration of solid aerosol particles and analyze the accompanying electrophysical and optoacoustic

  11. Sacral Perineural Cyst Accompanying Disc Herniation

    PubMed Central

    Ju, Chang Il; Shin, Ho; Kim, Hyeun Sung

    2009-01-01

    Although most of sacral perineural cysts are asymptomatic, some may produce symptoms. Specific radicular pain may be due to distortion, compression, or stretching of nerve root by a space occupying cyst. We report a rare case of S1 radiculopathy caused by sacral perineural cyst accompanying disc herniation. The patient underwent a microscopic discectomy at L5-S1 level. However, the patient's symptoms did not improved. The hypesthesia persisted, as did the right leg pain. Cyst-subarachnoid shunt was set to decompress nerve root and to equalize the cerebrospinal fluid pressure between the cephalad thecal sac and cyst. Immediately after surgery, the patient had no leg pain. After 6 months, the patient still remained free of leg pain. PMID:19352483

  12. Diabetic Neuropathy: What is a Total Contact Cast?

    MedlinePLUS

    MENU Return to Web version Diabetic Neuropathy | What is a Total Contact Cast? What is a total contact cast? A total contact cast is a cast used to treat ulcers (serious, deep sores) on a person’s foot. It consists of a fiberglass shell that fits around your leg and foot very ...

  13. Genetic determination of motor neuron disease and neuropathy.

    PubMed

    Vrebalov Cindro, Pavle; Vrebalov Cindro, Veselin

    2015-03-01

    Following the completion of the Human Genome Project, a lot of progress has been made in understanding the genetic basis of motor neuron diseases (MNDs) and neuropathies. Spinal Muscular Atrophies (SMA) are caused by mutations in the SMN1 gene localized on Chromosome 5q11. Amyotrophic Lateral Sclerosis (ALS) has been found to have at least 18 different types, many of them associated to different genetic loci (e.g. SOD1, ALS2, SETX, FUS, VAPB, ANG, TARDBP and others), but many of the forms have still not been associated with a particular gene. Sensomotoric hereditary neuropathies (Charcot-Marie-Tooth) are a large heterogeneous group of various hereditary neuropathies, which have also been associated with a wide spectrum of genetic mutations, such as PMP22, LITAF, EGR2, P0 protein, KIF1B, MFN2, RAB7 and others. It is also apparent that more genes are being implicated, mutations discovered, and phenotypes recognised and broadened. Therefore, a lot of continuing, additional research effort will be required in the coming years to illuminate pathogenic mechanisms that underlie motor neuron diseases and neuropathies and that could lead to new and improved treatments. PMID:26040103

  14. Nerve growth factor alleviates a painful peripheral neuropathy in rats

    Microsoft Academic Search

    K. Ren; D. A. Thomas; R. Dubner

    1995-01-01

    Nerve growth factor (NGF) reverses some effects of axotomy and prevents toxic neuropathy in adult rodents. We tested the effect of NGF on behavioral hyperalgesia resulting from a chronic constriction injury (CCI) of the sciatic nerve in the rat [5]. CCI rats exhibit thermal hyperalgesia as demonstrated by a reduction of paw withdrawal latency to a noxious thermal stimulus applied

  15. A clinico-pathological study of chronic hereditary motor neuropathy

    Microsoft Academic Search

    S. Matsubara; H. Tanabe

    1983-01-01

    Forty cases of chronic hereditary motor neuropathy (CHMN) were divided into five categories according to the distribution of muscle atrophy; they were proximal, facioscapulohumeral, bulbospinal, distal and scapuloperoneal forms. Their clinical features and laboratory data were analysed, and muscle biopsies from 32 of them were studied by histological, histochemical and electron microscopical methods. An attempt at quantitative assessment of the

  16. Detection of hereditary motor sensory neuropathy type I in childhood

    Microsoft Academic Search

    T E Feasby; A F Hahn; C F Bolton; W F Brown; W J Koopman

    1992-01-01

    Clinical signs and slowed motor nerve conduction velocities were found in 17 of 36 children under 10 years of age who had one parent with hereditary motor sensory neuropathy type I (HMSN I). Four children had slowed conduction velocities at one year or less. Clinical signs were subtle and included pes planus, distal foot wasting, weakness of ankle eversion and

  17. Exploration of small fibers for testing diabetic neuropathies

    Microsoft Academic Search

    Fawzia Chéliout-Héraut; N. Zrek; H. Khemliche; O. Varnet; D. Seret-Begue; M. Martinez; R. Nizou; F. Bour

    2005-01-01

    Introduction. – Electrophysiological exploration of neuropathies is a standard method of investigating the dysfunction of myelinated larger fibers (A?, A?). However, this method cannot test dysfunctions in other fibers. To evaluate the smaller (A?) and unmyelinated fiber (C-fibers) lesions a quantitative method has been perfected: the study of the sensory thresholds (quantitative sensory testing: QST). It allows the investigation of

  18. Exploration des petites fibres dans le dépistage des neuropathies diabétiques

    Microsoft Academic Search

    Fawzia Chéliout-Héraut; N. Zrek; H. Khemliche; O. Varnet; D. Seret-Begue; M. Martinez; R. Nizou; F. Bour

    2005-01-01

    Introduction. – Electrophysiological exploration of neuropathies is a standard method of investigating the dysfunction of myelinated larger fibers (A?, A?). However, this method cannot test dysfunctions in other fibers. To evaluate the smaller (A?) and unmyelinated fiber (C-fibers) lesions a quantitative method has been perfected: the study of the sensory thresholds (Quantitative Sensory Testing: QST). It allows the investigation of

  19. IgG monoclonal paraproteinaemia and peripheral neuropathy.

    PubMed Central

    Bleasel, A F; Hawke, S H; Pollard, J D; McLeod, J G

    1993-01-01

    Five patients with peripheral neuropathy and benign IgG monoclonal paraproteinemia are reported, all of whom had a sensorimotor neuropathy with a remitting and relapsing course. The serum paraprotein level did not correlate with the patient's clinical status. Electrophsyiological studies showed marked slowing of conduction velocity and conduction block in four of the patients and mild slowing in the other. Sural nerve biopsies demonstrated a demyelinating neuropathy with inflammatory cell infiltrates in each of the five patients. Three of the patients had evidence of myelin/Schwann cell reactivity on immunofluorescence studies and in all nerves dense expression of major histocompatability complex class I and II molecules was evident within the endoneurium, on invading mononuclear cells, endothelial cells and Schwann cells. All the patients responded to treatment, plasmapheresis being particularly effective. Four patients have achieved prolonged remissions after all treatment had ceased. These five cases of peripheral neuropathy and IgG paraproteinaemia were identical in their clinical, electrophysiological and pathological features to patients with chronic inflammatory demyelinating polyneuropathy. Images PMID:8381472

  20. Relationship among esophageal dysfunction, diabetic gastroenteropathy, and peripheral neuropathy

    Microsoft Academic Search

    C. O. H. Russell; R. Gannan; J. Coatsworth; R. Neilsen; F. Allen; L. D. Hill; C. E. Pope

    1983-01-01

    Esophageal motor function was tested in 12 patients with a clinical diagnosis of diabetic gastroenteropathy by radionuclide transit (RT) studies. Other insulin-dependent diabetics with and without symptoms of peripheral neuropathy but with no symptoms of gastrointestinal disease were similarly studied. Eleven of the 12 patients with gastroenteropathy were found to have abnormal esophageal function, even though only five had esophageal

  1. Nodes of Ranvier and Paranodes in Chronic Acquired Neuropathies

    Microsoft Academic Search

    Carmen Cifuentes-Diaz; Odile Dubourg; Theano Irinopoulou; Marc Vigny; Sylvie Lachkar; Laurence Decker; Patrick Charnay; Natalia Denisenko; Thierry Maisonobe; Jean-Marc Léger; Karine Viala; Jean-Jacques Hauw; Jean-Antoine Girault; Mark A. Tarnopolsky

    2011-01-01

    Chronic acquired neuropathies of unknown origin are classified as chronic inflammatory demyelinating polyneuropathies (CIDP) and chronic idiopathic axonal polyneuropathies (CIAP). The diagnosis can be very difficult, although it has important therapeutic implications since CIDP can be improved by immunomodulating treatment. The aim of this study was to examine the possible abnormalities of nodal and paranodal regions in these two types

  2. Microneurographic evaluation of sympathetic activity in small fiber neuropathy

    Microsoft Academic Search

    Rocco Liguori; Maria Pia Giannoccaro; Vitantonio Di Stasi; Fabio Pizza; Pietro Cortelli; Agostino Baruzzi; Pasquale Montagna; Vincenzo Donadio

    2011-01-01

    ObjectiveSmall fiber neuropathy (SFN) may involve somatic and autonomic fibers. Assessment of somatic epidermal nerve fiber density (ENFs) is considered the gold standard test in the diagnosis of SFN. By contrast, autonomic involvement in SFN is more difficult to ascertain. Here we investigate peripheral sympathetic outflow by microneurography in patients with selective small nerve fiber involvement of different origin with

  3. Protective effect of Jiaweibugan decoction against diabetic peripheral neuropathy?

    PubMed Central

    Wang, Yu; Chen, Zeqi; Ye, Renqun; He, Yulei; Li, Yuhong; Qiu, Xinjian

    2013-01-01

    Oxygen free radical damage is regarded as a direct or indirect common pathway associated with diabetic neuropathy and is the main cause of complications in peripheral neuropathies. We speculate that Jiaweibugan decoction has a significant effect in treating diabetic peripheral neuropathy through an anti-oxidative stress pathway. In this study, a diabetic rat model was established by intraperitoneal injection of streptozotocin. Rats were treated with Jiaweibugan decoction via intragastric administration. The levels of malondialdehyde and glutathione, which are indirect indexes of oxidative stress, in serum were determined using a colorimetric method. The expression levels of nuclear factor kappa B p65 mRNA and p38 mitogen-activated protein kinase, which are oxidative stress associated factors, in the dorsal root ganglion of spinal S4–6 segments were evaluated by reverse-transcriptase polymerase chain reaction and immunohistochemistry. Results showed that, Jiaweibugan decoction significantly ameliorated motor nerve conduction velocity in diabetic rats, effectively decreased malondialdehyde levels in serum and the expression of nuclear factor kappa B p65 mRNA and p38 mitogen-activated protein kinase mRNA in the dorsal root ganglion, and increased glutathione levels in serum. Therefore, our experimental findings indicate that Jiaweibugan decoction plays an anti-oxidative stress role in the diabetic peripheral neuropathy process, which has a protective effect on peripheral nerve injury. PMID:25206405

  4. Méničre’s Disease Is a Viral Neuropathy

    Microsoft Academic Search

    Richard R. Gacek

    2009-01-01

    Morphological and clinical evidence supports a viral neuropathy in Méničre’s disease (MD). Quantitative examination of 11 sectioned temporal bones (TBs) from 8 patients with a history of MD revealed a significant loss of vestibular ganglion cells in both the endolymph hydropic (EH) and non-EH ears. Transmission electron microscopy of vestibular ganglion cells excised from a patient with MD revealed viral

  5. The variable clinical manifestations of ulnar neuropathies at the elbow

    Microsoft Academic Search

    J D Stewart

    1987-01-01

    In twenty-five cases of ulnar neuropathy at the elbow, the involvement of the fibres from three sensory and to four motor branches were examined clinically and, where possible, electrophysiologically. Of the sensory fibres, those from the terminal digital nerves were most commonly involved. The fibres to the hand muscles were much more frequently involved than those to the forearm muscles.

  6. Neuropathy in a cohort of restless leg syndrome patients.

    PubMed

    Bastia, Jogendra K; Bhoi, Sanjeev K; Kalita, Jayantee; Misra, Usha K

    2015-08-01

    This study aims to evaluate the types of neuropathy in a cohort of restless leg syndrome (RLS) patients and compare them with primary RLS. RLS symptoms can occur in peripheral neuropathy and may cause diagnostic confusion, and there is a paucity of studies comparing neuropathic RLS and primary RLS. Patients with RLS diagnosed according to the international restless legs syndrome study group criteria were categorized as primary RLS or secondary. Those with evidence of peripheral neuropathy were categorized as neuropathic RLS. The demographic, clinical, laboratory profile and therapeutic response to dopamine agonists at 6months and 1year of neuropathic RLS patients were compared between primary and secondary RLS patients. There were 82 patients with RLS of whom 22 had peripheral neuropathy and 28 had primary RLS. The etiology of neuropathic RLS was diabetes mellitus in 13, renal failure in six, hypothyroidism in five, demyelinating in two, nutritional deficiency in three, leprosy in one, and miscellaneous etiologies in four patients. The neuropathic RLS patients were older (46.0±14.1 versus 35.8±15.4years), had shorter duration of illness (1.4±1.4 versus 6.2±6.2years) and were more frequently symptomatic. RLS symptoms were asymmetric in primary RLS patients compared to neuropathic RLS (25% versus 0%). The therapeutic response was similar in both groups. PMID:26094177

  7. Clinical research for neuropathies. | accrualnet.cancer.gov

    Cancer.gov

    The author discusses several ways in which participation in clinical research on neuropathies can be improved. Both patients and providers need to become better informed about the availability of trials. Patient advocacy groups and professional organizations should play a major role in informing their constituents about the value of clinical research and assist patients and providers in becoming involved.

  8. Neural development and neurodegeneration: two faces of Neuropathy Target Esterase

    Microsoft Academic Search

    Paul Glynn

    2000-01-01

    Neuropathy target esterase (NTE) is an integral membrane protein in vertebrate neurons. Recent evidence suggests that NTE plays an important role in neural development, possibly via involvement in a signalling pathway between neurons and glial cells. NTE is a member of a novel protein family, represented in organisms from bacteria to man. NTE comprises an N-terminal regulatory domain (with some

  9. The role of aberrant mitochondrial bioenergetics in diabetic neuropathy.

    PubMed

    Chowdhury, Subir K Roy; Smith, Darrell R; Fernyhough, Paul

    2013-03-01

    Diabetic neuropathy is a neurological complication of diabetes that causes significant morbidity and, because of the obesity-driven rise in incidence of type 2 diabetes, is becoming a major international health problem. Mitochondrial phenotype is abnormal in sensory neurons in diabetes and may contribute to the etiology of diabetic neuropathy where a distal dying-back neurodegenerative process is a key component contributing to fiber loss. This review summarizes the major features of mitochondrial dysfunction in neurons and Schwann cells in human diabetic patients and in experimental animal models (primarily exhibiting type 1 diabetes). This article attempts to relate these findings to the development of critical neuropathological hallmarks of the disease. Recent work reveals that hyperglycemia in diabetes triggers nutrient excess in neurons that, in turn, mediates a phenotypic change in mitochondrial biology through alteration of the AMP-activated protein kinase (AMPK)/peroxisome proliferator-activated receptor ? coactivator-1? (PGC-1?) signaling axis. This vital energy sensing metabolic pathway modulates mitochondrial function, biogenesis and regeneration. The bioenergetic phenotype of mitochondria in diabetic neurons is aberrant due to deleterious alterations in expression and activity of respiratory chain components as a direct consequence of abnormal AMPK/PGC-1? signaling. Utilization of innovative respirometry equipment to analyze mitochondrial function of cultured adult sensory neurons from diabetic rodents shows that the outcome for cellular bioenergetics is a reduced adaptability to fluctuations in ATP demand. The diabetes-induced maladaptive process is hypothesized to result in exhaustion of the ATP supply in the distal nerve compartment and induction of nerve fiber dissolution. The role of mitochondrial dysfunction in the etiology of diabetic neuropathy is compared with other types of neuropathy with a distal dying-back pathology such as Friedreich ataxia, Charcot-Marie-Tooth disease type 2 and human immunodeficiency virus-associated distal-symmetric neuropathy. PMID:22446165

  10. [Review of the recent literature on hereditary neuropathies].

    PubMed

    Birouk, N

    2014-12-01

    The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and its abnormalities in some forms of Charcot-Marie-Tooth (CMT) disease were particularly reviewed by Bucci et al. Many genes related to CMT disease code for proteins that are involved directly or not in intracellular traffic. KIF1B controls vesicle motility on microtubules. MTMR2, MTMR13 and FIG4 regulate the metabolism of phosphoinositide at the level of endosomes. The HSPs are involved in the proteasomal degradation. GDAP1 and MFN2 regulate the mitochondrial fission and fusion respectively and the mitochondial transport within the axon. Pareyson et al. reported a review on peripheral neuropathies in mitochondrial disorders. They used the term of "mitochondrial CMT" for the forms of CMT with abnormal mitochondrial dynamic or structure. Among the new entities, we can draw the attention to a proximal form of hereditary motor and sensory neuropathy with autosomal dominant inheritance, which is characterized by motor deficit with cramps and fasciculations predominating in proximal muscles. Distal sensory deficit can be present. The gene TFG on chromosome 3 has been recently identified to be responsible for this form. Another rare form of axonal autosomal recessive neuropathy due to HNT1 gene mutation is characterized by the presence of hands myotonia that appears later than neuropathy but constitute an interesting clinical hallmark to orientate the diagnosis of this form. In terms of differential diagnosis, CMT4J due to FIG4 mutation can present with a rapidly progressive and asymmetric weakness that resembles CIDP. Bouhy et al. made an interesting review on the therapeutic trials, animal models and the future therapeutic strategies to be developed in CMT disease. PMID:25459128

  11. Onion bulb neuropathy in the trembler mouse: A model of hypertrophic interstitial neuropathy (Dejerine-Sottas) in man

    Microsoft Academic Search

    Margaret M. Ayers; R. McD Anderson

    1973-01-01

    The trembler mouse is a spontaneous mutant showing dominant inheritance. Clinical symptoms become manifest from 10 to 14 days of age as an action tremor affecting the head, neck and limbs, convulsions which decrease with increasing age, and weakness and rigidity of the limbs. Histological examination revealed a normal central nervous system, and a peripheral onion bulb neuropathy similar to

  12. 9 CFR 93.409 - Articles accompanying ruminants.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...2012-01-01 false Articles accompanying ruminants. 93.409 Section 93.409 Animals...OF CONVEYANCE AND SHIPPING CONTAINERS Ruminants § 93.409 Articles accompanying ruminants. No litter or manure, fodder or...

  13. 9 CFR 93.409 - Articles accompanying ruminants.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...2014-01-01 false Articles accompanying ruminants. 93.409 Section 93.409 Animals...OF CONVEYANCE AND SHIPPING CONTAINERS Ruminants § 93.409 Articles accompanying ruminants. No litter or manure, fodder or...

  14. 9 CFR 93.409 - Articles accompanying ruminants.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...2011-01-01 false Articles accompanying ruminants. 93.409 Section 93.409 Animals...OF CONVEYANCE AND SHIPPING CONTAINERS Ruminants § 93.409 Articles accompanying ruminants. No litter or manure, fodder or...

  15. 9 CFR 93.409 - Articles accompanying ruminants.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ...2013-01-01 false Articles accompanying ruminants. 93.409 Section 93.409 Animals...OF CONVEYANCE AND SHIPPING CONTAINERS Ruminants § 93.409 Articles accompanying ruminants. No litter or manure, fodder or...

  16. 9 CFR 93.409 - Articles accompanying ruminants.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ...2010-01-01 false Articles accompanying ruminants. 93.409 Section 93.409 Animals...OF CONVEYANCE AND SHIPPING CONTAINERS Ruminants § 93.409 Articles accompanying ruminants. No litter or manure, fodder or...

  17. 9 CFR 93.508 - Articles accompanying swine.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...2011-01-01 false Articles accompanying swine. 93.508 Section 93.508 Animals and...MEANS OF CONVEYANCE AND SHIPPING CONTAINERS Swine § 93.508 Articles accompanying swine. No litter or manure, fodder or other...

  18. 9 CFR 93.508 - Articles accompanying swine.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ...2013-01-01 false Articles accompanying swine. 93.508 Section 93.508 Animals and...MEANS OF CONVEYANCE AND SHIPPING CONTAINERS Swine § 93.508 Articles accompanying swine. No litter or manure, fodder or other...

  19. 9 CFR 93.508 - Articles accompanying swine.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...2014-01-01 false Articles accompanying swine. 93.508 Section 93.508 Animals and...MEANS OF CONVEYANCE AND SHIPPING CONTAINERS Swine § 93.508 Articles accompanying swine. No litter or manure, fodder or other...

  20. 9 CFR 93.508 - Articles accompanying swine.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ...2010-01-01 false Articles accompanying swine. 93.508 Section 93.508 Animals and...MEANS OF CONVEYANCE AND SHIPPING CONTAINERS Swine § 93.508 Articles accompanying swine. No litter or manure, fodder or other...

  1. 9 CFR 93.508 - Articles accompanying swine.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...2012-01-01 false Articles accompanying swine. 93.508 Section 93.508 Animals and...MEANS OF CONVEYANCE AND SHIPPING CONTAINERS Swine § 93.508 Articles accompanying swine. No litter or manure, fodder or other...

  2. [Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].

    PubMed

    Ishiura, Hiroyuki; Tsuji, Shoji

    2013-01-01

    Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal dominant neurodegenerative disease characterized by proximal predominant weakness and muscle atrophy accompanied by distal sensory disturbance. Linkage analysis using 4 families identified a region on chromosome 3 showing a LOD score exceeding 4. Further refinement of candidate region was performed by haplotype analysis using high-density SNP data, resulting in a minimum candidate region spanning 3.3 Mb. Exome analysis of an HMSN-P patient revealed a mutation (c.854C>T, p.Pro285Leu) in TRK-fused gene (TFG). The identical mutation was found in the four families, which cosegregated with the disease. The mutation was neither found in Japanese control subjects nor public databases. Detailed haplotype analysis suggested two independent origins of the mutation. These findings indicate that the mutation in TFG causes HMSN-P. PMID:24291930

  3. Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy – A new distal hereditary motor neuropathy phenotype

    Microsoft Academic Search

    J. Haberlová; K. G. Claeys; P. De Jonghe; P. Seeman

    2009-01-01

    Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. It is occasionally associated with additional signs such as facial weakness, vocal cord paralysis, weakness of the diaphragm, and pyramidal signs. Although predominantly the inheritance is autosomal dominant, all types of inheritance have been described. Here we report a Czech family with cranial

  4. Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings

    Microsoft Academic Search

    Luba Kalaydjieva; Amelia Nikolova; Ivo Turnev; Julia Petrova; Anna Hristova; Boryana Ishpekova; Iva Petkova; Alexander Shmarov; Stella Stancheva; L. Middleton; Luciano Merlini; A. Trogu; J. R. Muddle; R. H. M. King; P. K. Thomas

    1998-01-01

    Summary A previously unrecognized neuropathy was identified in Bulgarian gypsies, and was designated hereditary motor and sensory neuropathy-Lom (HMSNL) after the town where the initial cases were found. It was subsequently identified in other gypsy communities. The disorder, which is of autosomal recessive inheritance, was mapped to chromosome 8q24. It begins consistently in the first decade of life with gait

  5. Perineural granulomas in cutaneous sarcoidosis may be associated with sarcoidosis small-fiber neuropathy.

    PubMed

    Munday, William R; McNiff, Jennifer; Watsky, Kalman; DiCapua, Daniel; Galan, Anjela

    2015-07-01

    Perineural granulomas in cutaneous sarcoidosis have been rarely reported and their clinical significance has yet to be evaluated. Recently, a 27-year-old male presented with multiple pink papules on the flank and lower back, accompanied by a painful, burning sensation. Biopsies revealed well-defined granulomas, consistent with sarcoidosis, in the dermis and involving small cutaneous nerves. We hypothesized that perineural granulomas may be an under-recognized feature of cutaneous sarcoidosis and may be responsible for sensory disturbances. We reviewed cases from 29 consecutive patients with cutaneous sarcoidosis. Perineural granulomas were identified in 18/29 (62%) patients and in 22/40 (55%) biopsies. Perineural granulomas were identified in 7/9 biopsies from the proximal upper extremity, 1/3 from the distal upper extremity, 7/12 from the head and the neck, including 4/4 from the nose, 5/9 from the back, 1/2 from the flank and 1/1 from the proximal lower extremity and 0/4 from the distal lower extremity. The anatomical distribution is similar to sarcoidosis small-fiber neuropathy (SSFN), in which sarcoidosis patients without evident skin lesions experience sensory disturbances of unknown etiology involving the face, the proximal extremities and the trunk. Our results indicate perineural granulomas in cutaneous sarcoidosis are more common than previously appreciated, primarily involve the head, the proximal upper extremities and the back, and may be responsible for neurological manifestations. PMID:25757612

  6. Immunohistochemical analysis of laryngeal muscles in normal horses and horses with subclinical recurrent laryngeal neuropathy.

    PubMed

    Rhee, Hannah S; Steel, Catherine M; Derksen, Frederik J; Robinson, N Edward; Hoh, Joseph F Y

    2009-08-01

    We used immunohistochemistry to examine myosin heavy-chain (MyHC)-based fiber-type profiles of the right and left cricoarytenoideus dorsalis (CAD) and arytenoideus transversus (TrA) muscles of six horses without laryngoscopic evidence of recurrent laryngeal neuropathy (RLN). Results showed that CAD and TrA muscles have the same slow, 2a, and 2x fibers as equine limb muscles, but not the faster contracting fibers expressing extraocular and 2B MyHCs found in laryngeal muscles of small mammals. Muscles from three horses showed fiber-type grouping bilaterally in the TrA muscles, but only in the left CAD. Fiber-type grouping suggests that denervation and reinnervation of fibers had occurred, and that these horses had subclinical RLN. There was a virtual elimination of 2x fibers in these muscles, accompanied by a significant increase in the percentage of 2a and slow fibers, and hypertrophy of these fiber types. The results suggest that multiple pathophysiological mechanisms are at work in early RLN, including selective denervation and reinnervation of 2x muscle fibers, corruption of neural impulse traffic that regulates 2x and slow muscle fiber types, and compensatory hypertrophy of remaining fibers. We conclude that horses afflicted with mild RLN are able to remain subclinical by compensatory hypertrophy of surviving muscle fibers. PMID:19398607

  7. Perceived Benefits of Group Exercise Among Individuals With Peripheral Neuropathy.

    PubMed

    Powell-Cope, Gail; Quigley, Patricia A; Besterman-Dahan, Karen; Lind, Jason D

    2014-03-12

    Exercise and training programs improve strength, functional balance, and prevent falls in a variety of populations. This article presents the qualitative findings related to the perceived benefits of participants in a randomized controlled trial that compared the effectiveness of group exercise on gait and balance in persons with peripheral neuropathy (PN). Participants with moderately severe PN were randomized into groups that received 10-week classes of Functional Balance Training (FBT) or Tai Chi or education alone. Perceptions of the intervention were overwhelmingly positive regardless of the study group. Perceived benefits reported by participants in the FBT and Tai Chi groups included awareness of how to deal with the effects of neuropathy by implementing balance strategies and a heightened sense of walking to prevent falls. This study offers a guide to design future exercise studies that promote simple balance exercises that can be performed in group settings. PMID:24622155

  8. Peripheral neuropathy in a turkey vulture with lead toxicosis.

    PubMed

    Platt, S R; Helmick, K E; Graham, J; Bennett, R A; Phillips, L; Chrisman, C L; Ginn, P E

    1999-04-15

    Clinical, electromyographic, and pathologic findings characteristic of lead toxicosis were detected in a turkey vulture (Cathartes aura). The bird had generalized lower motor neuron dysfunction that progressed over 5 days. Electromyography revealed diffuse denervation potentials and a presumed decrement in the sciatic-tibial nerve conduction velocity. Histologic examination of peripheral nerves obtained at necropsy revealed changes that could be compatible with lead-induced neuropathy. Lead toxicosis was confirmed by determination of blood lead concentrations. Lead toxicosis causing neurologic disorders in birds has been described. However, this report emphasizes the effects of lead on the peripheral nervous system and demonstrates the use of electromyography for diagnosis of peripheral neuropathy in birds. PMID:10212687

  9. Antiretroviral Therapy-Associated Acute Motor and Sensory Axonal Neuropathy

    PubMed Central

    Capers, Kimberly N.; Turnacioglu, Sinan; Leshner, Robert T.; Crawford, John R.

    2011-01-01

    Guillain-Barré syndrome (GBS) has been reported in HIV-infected patients in association with the immune reconstitution syndrome whose symptoms can be mimicked by highly active antiretroviral therapy (HAART)-mediated mitochondrial toxicity. We report a case of a 17-year-old, HIV-infected patient on HAART with a normal CD4 count and undetectable viral load, presenting with acute lower extremity weakness associated with lactatemia. Electromyography/nerve conduction studies revealed absent sensory potentials and decreased compound muscle action potentials, consistent with a diagnosis of acute motor and sensory axonal neuropathy. Lactatemia resolved following cessation of HAART; however, neurological deficits minimally improved over several months in spite of immune modulatory therapy. This case highlights the potential association between HAART, mitochondrial toxicity and acute axonal neuropathies in HIV-infected patients, distinct from the immune reconstitution syndrome. PMID:21327178

  10. [Uremic neuropathy is more frequent in male patients].

    PubMed

    Jedras, M; Zakrzewska-Pniewska, B; Gellert, R; Debowska, M; Wojtaszek, E; Wardyn, K

    2001-05-01

    The aim of this study was to analyse the relationship between clinical and electrophysiological features of somatic and autonomic neuropathy and gender of 51 patients on chronic hemodialysis. Apart from basic neurological examination, conduction velocities in peripheral nerves were determined, and the function of the autonomic nervous system was assessed with the help of two tests: R-R interval variation (RRIV) and sympathetic skin response (SSR). The incidence and intensity of clinical and electrophysiological signs of sensomotor neuropathy were statistically significantly more prevalent among male patients, whereas the symptoms suggesting autonomic involvement were more frequent in women. Results of parasympathetic electrophysiological tests were similar in both groups, but abnormal SSR results prevailed in male patients. PMID:11865591

  11. Three-dimensional imaging of lower limb neuropathies.

    PubMed

    Ahlawat, Shivani; Carrino, John A

    2015-04-01

    Peripheral nerve pathology can be detected on high-resolution MRI on the basis of primary or secondary findings. Primary findings of nerve pathology include alterations in signal, course, and caliber; secondary findings include skeletal muscle denervation. Although two-dimensional (2D) MRI sequences comprised of a combination of fluid-sensitive and non-fat-suppressed anatomical sequences can detect changes in nerve size, signal, course, and architecture, three-dimensional (3D) imaging can play an important role in the detection and characterization of nerve pathology including caliber changes at typical compression sites, anomalous course, and nerve discontinuity. This article discusses the benefits of 3D MRI with respect to lower limb neuropathies. The article also reviews the normal anatomy of the nerves in the lower extremity from the hip joint to the foot, and it illustrates common causes and the imaging appearance of lower limb peripheral neuropathy. PMID:25764241

  12. “Peripheral Neuropathy Crippling Bronchial Asthma”: Two Rare Case Reports of Churg-Strauss Syndrome

    PubMed Central

    Pandita, Kamal Kishore; Bhat, Khalid Javid; Razdan, Sushil; Kudyar, R. P.

    2014-01-01

    Churg-Strauss syndrome (CSS) is a rare cause of vasculitic neuropathy. Although rare and potentially fatal, Churg-Strauss syndrome (CSS) is easily diagnosable and treatable. The presence of bronchial asthma with peripheral neuropathy in a patient alerts a physician to this diagnosis. This is vividly illustrated by the presented two cases who had neuropathy associated with bronchial asthma, eosinophilia, sinusitis, and positive perinuclear antineutrophil cytoplasmic antibodies (p-ANCA) test, which improved with administration of steroids. PMID:25580342

  13. Effectiveness of frequency-modulated electromagnetic neural stimulation in the treatment of painful diabetic neuropathy

    Microsoft Academic Search

    E. Bosi; M. Conti; C. Vermigli; G. Cazzetta; E. Peretti; M. C. Cordoni; G. Galimberti; L. Scionti

    2005-01-01

    Aims\\/hypothesis  The largely unsatisfactory results reported for the pharmacological treatment of diabetic neuropathy has spurred the search for alternative therapies. The aim of this study was to evaluate the efficacy of frequency-modulated electromagnetic neural stimulation (FREMS) as a novel treatment for painful diabetic neuropathy.Methods  Patients (n=31) with painful neuropathy associated with decreased nerve conduction velocity (25 V) were enrolled in a randomised, double-blind,

  14. Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study

    Microsoft Academic Search

    Maria Pia Giannoccaro; Vincenzo Donadio; Carolina Gomis Pčrez; Walter Borsini; Vitantonio Di Stasi; Rocco Liguori

    2011-01-01

    Bortezomib is a new chemotherapeutic agent approved for the treatment of relapsed\\/refractory and newly diagnosed multiple\\u000a myeloma. One of the major side effects of bortezomib is a peripheral length-dependent sensory axonal neuropathy and, less\\u000a frequently, a small fiber neuropathy. Autonomic symptoms like postural dizziness, syncope, diarrhoea, ileus, impotence and\\u000a urinary disturbances have been reported, nevertheless, autonomic neuropathy has never been

  15. Bioelectrochemical Analysis of Neuropathy Target Esterase Activity in Blood

    Microsoft Academic Search

    Larisa V. Sigolaeva; Alexander Makower; Arkadi V. Eremenko; Galina F. Makhaeva; Vladimir V. Malygin; Ilya N. Kurochkin; Frieder W. Scheller

    2001-01-01

    Bioelectrochemical analysis of neuropathy target esterase (NTE) and its inhibitors is based on the combination of the NTE-catalyzed hydrolysis of phenyl valerate and phenol detection by a tyrosinase carbon-paste electrode. The use of the tyrosinase electrode improves 10-fold the sensitivity of NTE detection in comparison with a spectrophotometric method. The tyrosinase electrode was found to be suitable for measurements in

  16. Tolerating diabetes: an alternative therapeutic approach for diabetic neuropathy.

    PubMed

    Calcutt, Nigel A

    2010-01-01

    It is becoming apparent that a number of pathogenic mechanisms contribute to diabetic neuropathy, so that therapeutic interventions that target one particular mechanism may have limited success. A recently published preclinical study has adopted an alternative approach by using a novel small molecule to induce heat-shock protein 70. This confers upon neurons, and perhaps other cells of the nervous system, the ability to better tolerate the diverse stresses associated with diabetes rather than intervening in their production. PMID:20842208

  17. EFFECT OF AEROBIC EXERCISE INTERVENTION ON PAINFUL DIABETIC NEUROPATHY

    E-print Network

    Yoo, Min

    2013-05-31

    polyneuropathy, B12 deficiency, hypothyroidism, and uremia [15]. Other than proper glycemic control for management of diabetes itself, current standard care for treatment of PDN focuses on pharmacological treatments aiming to relieve painful symptoms. Commonly... with Painful Diabetic Neuropathy Physical exercise and a healthy diet have been shown to improve management of diabetes and its complications [17, 18]. A single bout of exercise has been shown to improve glycemic control – as measured by time spent...

  18. Plasma Amino-acids in the Nigerian Nutritional Ataxic Neuropathy

    Microsoft Academic Search

    B. O. Osuntokun; J. E. Durowoju; H. McFarlane; J. Wilson

    1968-01-01

    Investigation of nine patients with tropical ataxic neuropathy showed an absence or diminution of sulphur-containing amino-acids—cysteine and methionine—and a variable concentration of most other essential amino-acids. The pattern was unlike that found in kwashiorkor. The levels of serum cholesterol and total protein were normal, and the serum vitamin B12 levels were normal or high. Plasma thiocyanate concentration was high.All the

  19. Newer agents for the treatment of painful diabetic peripheral neuropathy

    Microsoft Academic Search

    Roy Freeman

    2005-01-01

    Neuropathic pain is responsible for a significant amount of the morbidity associated with generalized and focal peripheral\\u000a neuropathies in diabetes. It is a consequence of alterations in neuronal function, chemistry, and structure that occur secondary\\u000a to nerve injury. A variety of agents from diverse pharmacologic classes, the so-called adjuvant analgesics, have been used\\u000a to treat neuropathic pain. These include antidepressants,

  20. Peripheral neuropathy: surgical approaches simplified for the imagers.

    PubMed

    Kao, Dennis S; Cheng, Jonathan

    2015-04-01

    Peripheral nerves traverse through different soft tissue compartments in the upper and lower extremities via specific anatomical tunnels, where they are susceptible to entrapment. Common sites in the upper extremity include carpal tunnel, cubital tunnel and radial tunnel. Common sites in the lower extremity include piriformis, fibular neck, and tarsal tunnel. Compressive peripheral neuropathy can develop in these sites, and are amenable for surgical decompression. PMID:25764236

  1. Risk Factors for Auditory Neuropathy\\/Auditory Synaptopathy

    Microsoft Academic Search

    Dirk Beutner; Astrid Foerst; Ruth Lang-Roth; Hasso von Wedel; Martin Walger

    2007-01-01

    Aims: It was the aim of this study to describe risk factors in auditory neuropathy\\/auditory synaptopathy (AN\\/AS). Methods: Between 1997 and 2005, we diagnosed 37 children with AN\\/AS. They underwent a critical chart review for risk factors and etiological coincidences in this idiosyncratic disorder. Results: Eighteen neonates had a history of prematurity and low birth weight. Hyperbilirubinaemia was present in

  2. Rituximab stabilizes multifocal motor neuropathy increasingly less responsive to IVIg.

    PubMed

    Rüegg, Stephan J; Fuhr, Peter; Steck, Andreas J

    2004-12-14

    The authors report a patient with anti-GM(1) antibody-negative multifocal motor neuropathy (MMN) who was increasingly less responsive to IV immunoglobulins (IVIgs). Five yearly courses of the monoclonal anti-CD20 antibody rituximab were well tolerated and extended the interval of IVIg administration from 7 to 12 days (corresponding to 42% reduction of IVIg) during this period. Rituximab may be a benefit for patients with MMN. PMID:15596777

  3. Inflammatory neuropathies: an update on evaluation and treatment

    Microsoft Academic Search

    Lisa D. Hobson-Webb; Peter D. Donofrio

    2005-01-01

    Inflammatory neuropathies are a diverse group of illnesses sharing the pathologic characteristic of inflammation sur-rounding\\u000a nerve fibers. They may be autoimmune, granulo-matous, infectious, paraneoplastic, or paraproteinemic in origin. All can result\\u000a in significant morbidity and rarely, death. It is critical to correctly diagnose these illnesses, as many respond well to\\u000a treatment. In this paper, the diag-nosis and latest developments in

  4. Weak Ankles. A Study of Common Peroneal Entrapment Neuropathy

    Microsoft Academic Search

    J. D. Sidey

    1969-01-01

    Twenty-three patients were seen with entrapment neuropathy in a two-and-a-half-year period. Symptoms consisted of pain, paresis, and paraesthesia in the distribution of the common peroneal nerve. Some degree of paresis was often present, which in five patients was severe enough to cause drop foot. In 20 patients decompression of the entrapped nerve at the neck of the fibula was quickly

  5. Recovery features in ulnar neuropathy at the elbow

    PubMed Central

    Y?ld?r?m, Pelin; Yildirim, Apdullah; Misirlioglu, Tugce Ozekli; Evcili, Gokhan; Karahan, Ali Yavuz; Gunduz, Osman Hakan

    2015-01-01

    [Purpose] This study evaluated the effect of age, sex, and entrapment localization on recovery time in patients treated conservatively for ulnar neuropathy at the elbow. [Subjects] Thirty-five patients (16 women and 15 men) who were diagnosed with ulnar neuropathy at the elbow using short segment conduction studies were evaluated retrospectively. [Methods] Definition of recovey was made based on patient satisfaction. The absence of symptoms was considered as the marker of recovery. Patients who recovered within 0–4 weeks were in Group 1, and patients who recovered within 4 weeks to 6 months were in Group 2. The differences between Group 1 and Group 2 in terms of age, sex and entrapment localization were investigated. [Results] Entrapment was most frequent in the retroepicondylar groove (54.3%). No significant difference was found in terms of age and entrapment localizations between Groups 1 and 2. There was a statistically significant difference between the groups for the male sex. [Conclusion] In ulnar neuropathy at the elbow, age and entrapment localization do not affect recovery time. However, male sex appears to be associated with longer recovery time.

  6. The armadillo as a model for peripheral neuropathy in leprosy.

    PubMed

    Truman, Richard W; Ebenezer, Gigi J; Pena, Maria T; Sharma, Rahul; Balamayooran, Gayathriy; Gillingwater, Thomas H; Scollard, David M; McArthur, Justin C; Rambukkana, Anura

    2014-01-01

    Leprosy (also known as Hansen's Disease) is a chronic infectious disease caused by Mycobacterium leprae that primarily targets the peripheral nervous system; skin, muscle, and other tissues are also affected. Other than humans, nine-banded armadillos (Dasypus novemcinctus) are the only natural hosts of M. leprae, and they are the only laboratory animals that develop extensive neurological involvement with this bacterium. Infection in the armadillo closely recapitulates many of the structural, physiological, and functional aspects of leprosy seen in humans. Armadillos can be useful models of leprosy for basic scientific investigations into the pathogenesis of leprosy neuropathy and its associated myopathies, as well as for translational research studies in piloting new diagnostic methods or therapeutic interventions. Practical and ethical constraints often limit investigation into human neuropathies, but armadillos are an abundant source of leprotic neurologic fibers. Studies with these animals may provide new insights into the mechanisms involved in leprosy that also might benefit the understanding of other demyelinating neuropathies. Although there is only a limited supply of armadillo-specific reagents, the armadillo whole genomic sequence has been completed, and gene expression studies can be employed. Clinical procedures, such as electrophysiological nerve conduction testing, provide a functional assessment of armadillo nerves. A variety of standard histopathological and immunopathological procedures including Epidermal Nerve Fiber Density (ENFD) analysis, Schwann Cell Density, and analysis for other conserved cellular markers can be used effectively with armadillos and will be briefly reviewed in this text. PMID:24615444

  7. The Armadillo as a Model for Peripheral Neuropathy in Leprosy

    PubMed Central

    Truman, Richard W.; Ebenezer, Gigi J.; Pena, Maria T.; Sharma, Rahul; Balamayooran, Gayathriy; Gillingwater, Thomas H.; Scollard, David M.; McArthur, Justin C.; Rambukkana, Anura

    2014-01-01

    Leprosy (also known as Hansen's Disease) is a chronic infectious disease caused by Mycobacterium leprae that primarily targets the peripheral nervous system; skin, muscle, and other tissues are also affected. Other than humans, nine-banded armadillos (Dasypus novemcinctus) are the only natural hosts of M. leprae, and they are the only laboratory animals that develop extensive neurological involvement with this bacterium. Infection in the armadillo closely recapitulates many of the structural, physiological, and functional aspects of leprosy seen in humans. Armadillos can be useful models of leprosy for basic scientific investigations into the pathogenesis of leprosy neuropathy and its associated myopathies, as well as for translational research studies in piloting new diagnostic methods or therapeutic interventions. Practical and ethical constraints often limit investigation into human neuropathies, but armadillos are an abundant source of leprotic neurologic fibers. Studies with these animals may provide new insights into the mechanisms involved in leprosy that also might benefit the understanding of other demyelinating neuropathies. Although there is only a limited supply of armadillo-specific reagents, the armadillo whole genomic sequence has been completed, and gene expression studies can be employed. Clinical procedures, such as electrophysiological nerve conduction testing, provide a functional assessment of armadillo nerves. A variety of standard histopathological and immunopathological procedures including Epidermal Nerve Fiber Density (ENFD) analysis, Schwann Cell Density, and analysis for other conserved cellular markers can be used effectively with armadillos and will be briefly reviewed in this text. PMID:24615444

  8. Systematic reviews of treatment for inflammatory demyelinating neuropathy*

    PubMed Central

    Hughes, RAC

    2002-01-01

    This review describes the progress made in preparing Cochrane systematic reviews of randomized controlled trials for Guillain–Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), multifocal motor neuropathy (MMN) and the demyelinating neuropathies associated with paraproteins. The discovery of antibodies against myelin andaxolemmal glycolipids and proteins has not yet replaced the clinicopathological classificationon which treatment trials have been based. Systematic reviews have endorsed the equivalence of plasma exchange (PE) and intravenous immunoglobulin (IVIg) and the lack of efficacy of steroids in GBS. Systematic reviews have also endorsed the value of steroids, PE and IVIg in CIDP butrandomized controlled trials have only shown benefit from IVIg in MMN. There is a paucity of evidence concerning the efficacy of treatments in paraproteinaemic demyelinating neuropathy apartment from small trials showing short-term benefit from PE or IVIg. There is a lack of good quality controlled trials of immunosuppressive agents in any of these conditions. As the numberof treatment trials increases, Cochrane systematic reviews will be an increasingly valuable resource for summarizing the evidence from randomised controlled trials on which to base clinical practice. They already demonstrate major deficiencies in the existing evidence base. PMID:12090400

  9. Initial and long-term management of autoimmune neuropathies.

    PubMed

    Koski, Carol Lee

    2005-01-01

    The inflammatory neuropathies (chronic inflammatory demyelinating polyradiculoneuropathy [CIDP], Guillain-Barré syndrome [GBS] and multifocal motor neuropathy [MMN]) affect only one to two individuals per 100 000 of the population, but result in major disability and impairment. Intravenous immunoglobulin (IVIg) can be used as an initial treatment for CIDP, GBS and MMN. While plasma exchange and corticosteroids can also be used initially, they are not as uniformly effective for each of these disorders as IVIg. Substituting corticosteroids, plasma exchange or immunosuppressants may be appropriate for patients not responding to initial IVIg therapy, and combination therapy may be needed in some patients. There are no data from controlled clinical trials of long-term management strategies for CIDP and MMN; however, empirical evidence suggests that a positive long-term response to IVIg can be achieved by increasing the initial dose or its frequency of administration. Corticosteroids and immunosuppressants may be appropriate in some patients with CIDP. Adverse events with IVIg are usually mild and not treatment limiting; however, patients do need to be monitored for uncommon, but serious, adverse events such as renal insufficiency, stroke and thromboembolic events. Nevertheless, the safety profile of IVIg is exceptional relative to the potential complications of other long-term treatments for CIDP and MMN, especially corticosteroids and immunosuppressants. Predictors of response have been reported for each of the neuropathies, and until controlled clinical trials provide evidence on which to base treatment strategies, effective management will require individualising therapy according to patient response. PMID:16332144

  10. Pyridoxine-induced sensory ataxic neuronopathy and neuropathy: revisited.

    PubMed

    Kulkantrakorn, Kongkiat

    2014-11-01

    High dose pyridoxine is neurotoxic. Previous case reports were sparse and little is known about the clinical and electrodiagnostic findings. Three patients with pyridoxine-induced sensory ataxic neuropathy were studied and a review of the involved literature was performed. Three patients, aged 80, 83 and 83 years old, presented with sensory ataxia for 3-8 months. Examination showed signs of polyneuropathy and sensory ataxia. Six hundred milligrams of pyridoxine was consumed each day for 3-10 years, in the form of vitamin B1-6-12 combination tablet. Investigations for other causes of neuropathy were unremarkable. Blood levels of vitamin B6 were markedly elevated at 104.6, 81.4 and 66.9 times of upper normal limits. Electrodiagnostic tests showed symmetric axonal sensory polyneuropathy in two patients. Two years after vitamin discontinuation, all patients showed no significant improvement in the neuropathy and gait. In conclusion, consumption of high dose pyridoxine can cause sensory neuronopathy and axonal sensorimotor polyneuropathy, leading to sensory ataxia which may not be reversible. PMID:25056196

  11. [Treatment algorithm for oxaliplatin-induced peripheral neuropathy].

    PubMed

    Nihei, Satoru; Sato, Junya; Kimura, Toshimoto; Otsuka, Koki; Kawaguchi, Sachiko; Kudo, Kenzo

    2014-11-01

    Oxaliplatin (L-OHP) is a key drug in the treatment of colorectal cancer; however, L-OHP-induced peripheral neuropathy becomes a dose-limiting factor for which withdrawal is the only effective option. In the present study, we attempted to treat L-OHP-induced peripheral neuropathy using the algorithm consisting of pregabalin, duloxetine, and oxycodone at Iwate Medical University Hospital. The first, second, and third stages of the algorithm consist of pregabalin, duloxetine, and oxycodone, respectively. We examined the usefulness and safety of the treatment algorithm for 27 patients with colorectal cancer by evaluating the side effects and degree of improvement of subjective symptoms. When discontinuation was necessary due to adverse events or invalid treatment during the 4-week study period, the patient was transitioned to the next stage. The response rates of the first, second, and third stages of the algorithm were 33% (9/27), 33% (6/18), and 17% (1/6), respectively, whereas the overall response rate was 59% (16/27). The side effect rates of the first, second, and third stages were 37% (10/27), 33% (6/18), and 83% (5/6), respectively. Somnolence was the most common side effect of these drugs. Thus, our treatment algorithm appears to be useful for L-OHP-induced peripheral neuropathy. However, pregabalin, duloxetine, and oxycodone should be administered with specific attention on the potential side effects. PMID:25434440

  12. Matrix metalloproteinases-9 and -2 in secondary vasculitic neuropathies.

    PubMed

    Renaud, Susanne; Erne, Beat; Fuhr, Peter; Said, Gérard; Lacroix, Catherine; Steck, Andreas J; Leppert, David

    2003-01-01

    Matrix metalloproteinases (MMPs) are a family of zinc-dependent endoproteinases that play an important role in inflammation and tissue degradation. MMP-9 and MMP-2 are gelatinases that have been implicated in the degradation of the blood-brain or blood-nerve barrier. We present an immunohistochemical study on 11 nerve biopsy samples of inflammatory and non-inflammatory polyneuropathies. Perineurium and endothelium were positive for MMP-2 in all tissue sections. In addition, there was a specific up-regulation of MMP-2 in stromal cells of chronic inflammatory demyelinating polyneuropathy (CIDP) and even more in vasculitic neuropathies. MMP-9-positive cells were detected in vessel walls, infiltrates, epineurium and endoneurium of vasculitic neuropathies. In CIDP, MMP-9-positive cells were prominent in vessel walls. Only a few MMP-9-positive cells were detected in noninflammatory controls in blood vessels and adhering to vessel walls. Double staining indicated that the infiltrating cells were T cells and macrophages. Our findings suggest that MMP-9 plays an important role in inflammatory peripheral neuropathy probably as means for inflammatory cell invasion. PMID:12471459

  13. Hereditary motor-sensory, motor, and sensory neuropathies in childhood.

    PubMed

    Landrieu, Pierre; Baets, Jonathan; De Jonghe, Peter

    2013-01-01

    Hereditary neuropathies (HN) are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission, age of occurrence, and, in selected cases, pathological findings. The combination of these parameters frequently orients towards specific genetic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first pediatric concern. Primary, motor-sensory are the most frequent HN and are dominated by demyelinating AD forms (CMT1). Others are demyelinating AR forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Pure motor HN represent<10% of HN but exhibit large clinical and genetic heterogeneity. Sensory/dysautonomic HN cover five classical subtypes, each one related to specific genes. However, genetic heterogeneity is largly greater than initially suspected. Syndromic HN distinguish: "purely neurological syndromes", which are multisystemic, usually AD disorders, such as spinocerebellar atrophies +, spastic paraplegias +, etc. Peripheral Neuropathy may be the presenting feature, including in childhood. Clearly degenerative, AR forms prompt to investigate a large set of pleiotropic genes. Other syndromes, expressed in the perinatal period and comprising malformative features, are mainly developmental disorders, sometimes related to specific transcription factors. Altogether, >40 genes with various biological functions have been found responsible for HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait: for the pediatric neurologist, phenotype/genotype correlations constitute a permanent bidirectional exercise. PMID:23622364

  14. An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients

    ClinicalTrials.gov

    2015-04-28

    Charcot Marie Tooth Disease (CMT); Hereditary Sensory and Motor Neuropathy; Nerve Compression Syndromes; Tooth Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Heredodegenerative Disorders, Nervous System

  15. Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study.

    PubMed

    Giannoccaro, Maria Pia; Donadio, Vincenzo; Gomis Pčrez, Carolina; Borsini, Walter; Di Stasi, Vitantonio; Liguori, Rocco

    2011-04-01

    Bortezomib is a new chemotherapeutic agent approved for the treatment of relapsed/refractory and newly diagnosed multiple myeloma. One of the major side effects of bortezomib is a peripheral length-dependent sensory axonal neuropathy and, less frequently, a small fiber neuropathy. Autonomic symptoms like postural dizziness, syncope, diarrhoea, ileus, impotence and urinary disturbances have been reported, nevertheless, autonomic neuropathy has never been characterized. We describe by means of immunofluorescence, the involvement of autonomic skin nerve fibers in three patients with small fiber neuropathy induced by bortezomib treatment. PMID:21290160

  16. Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India

    PubMed Central

    Lepcha, Anjali; Chandran, Reni K.; Alexander, Mathew; Agustine, Ann Mary; Thenmozhi, K.; Balraj, Achamma

    2015-01-01

    Aims: To find out the prevalence and types of neurological abnormalities associated in auditory neuropathy spectrum disorder in a large tertiary referral center. Settings and Design: A prospective clinical study was conducted on all patients diagnosed with auditory neuropathy spectrum disorder in the ear, nose, and throat (ENT) and neurology departments during a 17-month period. Patients with neurological abnormalities on history and examination were further assessed by a neurologist to determine the type of disorder present. Results: The frequency of auditory neuropathy spectrum disorder was 1.12%. Sixty percent were found to have neurological involvement. This included cerebral palsy in children, peripheral neuropathy (PN), spinocerebellar ataxia, hereditary motor-sensory neuropathy, spastic paresis, and ponto-bulbar palsy. Neurological lesions did not present simultaneously with hearing loss in most patients. Sixty-six percent of patients with auditory neuropathy spectrum disorder were born of consanguineous marriages. Conclusions: There is a high prevalence of neurological lesions in auditory neuropathy spectrum disorder which has to be kept in mind while evaluating such patients. Follow-up and counselling regarding the appearance of neuropathies is therefore important in such patients. A hereditary etiology is indicated in a majority of cases of auditory neuropathy spectrum disorder. PMID:26019414

  17. [A case of Paclitaxel-induced peripheral neuropathy successfully treated with duloxetine].

    PubMed

    Nagashima, Satoshi; Kiba, Takayoshi; Ogawa, Yoshikazu; Mura, Takuya; Kajiume, Sayoko; Okada, Yuuko; Morii, Nao; Takahashi, Hirotoshi; Ichiba, Yasunori; Yamashiro, Hiroyasu

    2015-05-01

    Here, we report about a 60-year-old woman with metastatic breast cancer who was successfully treated for paclitaxelinduced peripheral neuropathy with duloxetine. She was administered trastuzumab plus paclitaxel(PTX)combination therapy that was ultimately discontinued because of grade 3 peripheral neuropathy detected on day 15, according to the CTCAE (v4.0). She was administered duloxetine on day 90 after the end of the previous therapy because of the peripheral neuropathy. Thereafter, the peripheral neuropathy decreased to grade 1, which enabled PTX administration on her request. Further trials are required to confirm the efficacy of duloxetine. PMID:25981658

  18. Overview of neuropathy associated with taxanes for the treatment of metastatic breast cancer.

    PubMed

    Rivera, Edgardo; Cianfrocca, Mary

    2015-04-01

    Taxanes are an established option in the standard treatment paradigm for patients with metastatic breast cancer (MBC). Neuropathy is a common, dose-limiting side effect of taxane therapy that is often managed by dose reductions and delays. The severity, time to onset, and improvement in neuropathy are important considerations for patient management and vary among currently approved taxanes. The rate of grade ?3 neuropathy with taxanes has been shown to be dose and schedule dependent; however, time to improvement to grade ?1 is typically shorter for nab-paclitaxel than for other taxanes in patients with MBC. Many tools for assessing patient-reported neuropathy exist. Because MBC is incurable and patient quality of life must be critically considered when making treatment decisions, there is a need for more prospective trials to assess patient-reported neuropathy. Validated predictors of taxane-related neuropathy may play an important role in treatment decisions in the future. This review will focus on the toxicity profile (i.e., neuropathy) of each of the taxanes used in the treatment of MBC, will provide updates on tools used for the assessment of neuropathy, and will highlight newly discovered predictors of taxane-related neuropathy. PMID:25596818

  19. IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy.

    PubMed

    Lombardi, Raffaella; Erne, Beat; Lauria, Giuseppe; Pareyson, Davide; Borgna, Monica; Morbin, Michela; Arnold, Andreas; Czaplinski, Adam; Fuhr, Peter; Schaeren-Wiemers, Nicole; Steck, Andreas J

    2005-02-01

    Anti-myelin-associated glycoprotein (anti-MAG) neuropathy is a chronic demyelinating neuropathy with predominant involvement of large sensory fibers and deposits of IgM and complement on sural nerve myelinated fibers. We assessed the presence of IgM deposits on skin myelinated nerve fibers and the involvement of unmyelinated axons in anti-MAG neuropathy. Skin biopsies were performed in 14 patients with anti-MAG neuropathy, in 8 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and in 2 patients with IgM paraproteinemic neuropathy. Biopsies were taken at the proximal thigh in 20 patients, at the distal leg in 21 patients, at the proximal arm in 13 patients, and at the hand or fingertip in 10 patients. We found IgM deposits on dermal myelinated fibers in all anti-MAG neuropathy patients, with a greater prevalence at the distal site of the extremities. Deposits were located throughout the length of the fibers and at the paranodal loops. CIDP and IgM paraproteinemic neuropathies did not show any deposit of IgM. Anti-MAG neuropathy and CIPD patients showed a decrease in epidermal nerve fiber density reflecting an associated axonal loss. In anti-MAG neuropathy, both large- and small-diameter nerve fibers are affected, and specific deposits of IgM are found on skin myelinated nerve fibers. PMID:15668968

  20. Evaluation of neuropathy during intensive vincristine chemotherapy for non-Hodgkin's lymphoma and Acute Lymphoblastic Leukemia

    PubMed Central

    Dorchin, M; Masoumi Dehshiri, R; Soleiman, S; Manashi, M

    2013-01-01

    Back ground: Vincristine (VCR), is a chemotherapy drug, useful in the treatment of leukemia, lymphoma and solid tumor and it is a potent neurotoxin and sensory neuropathy drug which a common behavioral toxicity of this drug. Neuropathy is common squeal of intensive chemotherapy protocols that contain vincristine and corticosteroids. Materials and Methods: This study was a retrospective and descriptive study of neuropathy during in chemotherapy program with vincristine for patients with non-Hodgkin's lymphoma (NHL) and Acute Lymphoblastic Leukemia (ALL). Data was analyzed by spss Version16 software. Results: From total of 51 cases, 23 patients had vincristine neuropathy (45%). Patients with visceral neuropathy have shown ileus, constipation in 13 patients (25%), occasionally severe diarrhea 11 (21%), mild diarrhea 7 (13.7%) and transient diarrhea in 16 patients (31%). Motor neuropathy were found in one patient with Bell, s palsy (1.9%) and one patient with Hoarseness. 12 patients (23.5%) had some type of complication together with sensory peripheral neuropathy. Conclusion: Almost half of patients with vincristin chemotherapy had neuropathy and the mean age of patients with neuropathy was 12.3 years. PMID:24575286

  1. [Diabetic neuropathies: clinical sub-types, early detection and asking help from the specialist].

    PubMed

    Kuntzer, Thierry; Ruiz, Juan

    2014-04-30

    In diabetes mellitus, it is expected to see a common, mainly sensitive, distal symmetrical polyneuropathy (DPN) involving a large proportion of diabetic patients according to known risk factors. Several other diabetic peripheral neuropathies are recognized, such as dysautonomia and multifocal neuropathies including lumbosacral radiculoplexus and oculomotor palsies. In this review, general aspects of diabetic neuropathies are examined, and it is discussed why and how the general practionner has to perform a yearly examination. At the present time, some consensuses emerge to ask help from the specialist when faced to other forms of peripheral neuropathies than distal symmetrical DPN. PMID:24834615

  2. Putative peripheral neuropathy in suckling piglets.

    PubMed

    Sályi, G; Glávits, R; Molnár, T

    2000-08-01

    Over a period of almost 2 years, a progressive motor disturbance was found to occur in 20-50% of the litters of both primiparous and multiparous sows in a large pig herd of 1000 sows. The motor disturbance sometimes affected the entire litter; however, in most cases only a few piglets per litter were affected. The clinical signs appeared at 3-5 days of age and consisted of difficult movement followed by anteflexion or retroflexion of the tarsal joints or 'rabbit-like posture'. Subsequently, primarily after weaning, inflammatory and necrotic lesions developed on the paralysed limbs as a result of secondary infections of injuries. The tibial nerve and the common fibular nerve of recently affected (5- to 6-day-old) piglets showed degeneration, demyelination and necrosis of some of the nerve fibres, accompanied by restorative changes in more chronic cases. The central nervous system, bones, skeletal muscles, tendons and joints showed no lesions that could have accounted for the symptoms of motor disturbance. Aetiological investigations excluded the possibility of lead, copper and cadmium toxicity. Vitamin B2 administered orally at 1 day old proved to be ineffective. The disease did not develop in piglets of sows kept at another farm under the same management and fed a diet prepared according to an identical formula from the same ingredients as those used on the affected farm, but with no milk whey added. This raised the suspicion of triaryl phosphate (TAP) poisoning, but this was found not to be the cause of the disease. New boars had not been brought to the farm in the year preceding the onset of disease, and the disease could not be linked to a specific boar or boar line. The aetiology of the disease has remained unclear. PMID:11014060

  3. The identification of gene expression profiles associated with progression of human diabetic neuropathy

    PubMed Central

    Hur, Junguk; Sullivan, Kelli A.; Pande, Manjusha; Hong, Yu; Sima, Anders A. F.; Jagadish, Hosagrahar V.; Kretzler, Matthias

    2011-01-01

    Diabetic neuropathy is a common complication of diabetes. While multiple pathways are implicated in the pathophysiology of diabetic neuropathy, there are no specific treatments and no means to predict diabetic neuropathy onset or progression. Here, we identify gene expression signatures related to diabetic neuropathy and develop computational classification models of diabetic neuropathy progression. Microarray experiments were performed on 50 samples of human sural nerves collected during a 52-week clinical trial. A series of bioinformatics analyses identified differentially expressed genes and their networks and biological pathways potentially responsible for the progression of diabetic neuropathy. We identified 532 differentially expressed genes between patient samples with progressing or non-progressing diabetic neuropathy, and found these were functionally enriched in pathways involving inflammatory responses and lipid metabolism. A literature-derived co-citation network of the differentially expressed genes revealed gene subnetworks centred on apolipoprotein E, jun, leptin, serpin peptidase inhibitor E type 1 and peroxisome proliferator-activated receptor gamma. The differentially expressed genes were used to classify a test set of patients with regard to diabetic neuropathy progression. Ridge regression models containing 14 differentially expressed genes correctly classified the progression status of 92% of patients (P?neuropathy progression in human sural nerve biopsies and describe their potential utility in classifying diabetic neuropathy. Our results identifying the unique gene signature of patients with progressive diabetic neuropathy will facilitate the development of new mechanism-based diagnostics and therapies. PMID:21926103

  4. Primary Wegener's granulomatosis of the orbital apex with initial optic nerve infiltration.

    PubMed

    Shunmugam, Manoharan; Morley, Ana M S; Graham, Elizabeth; D'Cruz, David; O'Sullivan, Eoin; Malhotra, Raman

    2011-01-01

    Wegener's granulomatosis can involve the orbit and sometimes the optic nerve. This usually occurs as a result of contiguous spread from affected sinuses or extraocular muscles, or from a vasculitic posterior optic neuropathy. However, we present an unusual case of isolated orbital apex infiltrative disease in a patient with known Wegener's granulomatosis. This initially caused painless optic neuropathy and progressed to painful ophthalmoplegia and blindness. Optic nerve biopsy, performed to exclude methotrexate-induced lymphoma, confirmed optic nerve infiltration. The condition was refractory to high-dose pulsed methylprednisolone but the patient gained symptomatic relief from rituximab. Wegener's granulomatosis should be considered in cases of isolated posterior optic neuropathy, and close attention should be placed on imaging the orbital apex. PMID:21281075

  5. Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory

    E-print Network

    Gilad, Yoav

    characterized by chronic motor and sensory neuropathy resulting in progressive distal muscle weakness.smeyers@ua.ac.be The Hereditary Neuropathy Foundation 1751 2nd Ave Suite 103 New York NY 10128 Phone: 877-463-1287; 2126/11 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies

  6. Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory

    E-print Network

    Gilad, Yoav

    characterized by chronic motor and sensory neuropathy resulting in progressive distal muscle weakness.smeyers@ua.ac.be The Hereditary Neuropathy Foundation 1751 2nd Ave Suite 103 New York NY 10128 Phone: 877-463-1287; 212-Marie-Tooth Hereditary Neuropathy. In: GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright

  7. Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies characterized by chronic motor and sensory

    E-print Network

    Ober, Carole

    characterized by chronic motor and sensory neuropathy resulting in progressive distal muscle weakness.smeyers@ua.ac.be The Hereditary Neuropathy Foundation 1751 2nd Ave Suite 103 New York NY 10128 Phone: 877-463-1287; 2121/13 Clinical Features: Charcot Marie Tooth Disease is a group of inherited neuropathies

  8. Perspectives in Diabetes Clinical Trials of Diabetic Neuropathy: Past, Present, and Future

    Microsoft Academic Search

    Michael A. Pfeifer; Mary P. Schumer

    This article reviews current knowledge of the etiology of diabetic neuropathy and the outcomes and limitations of previous trials and discusses future directions for the investigation of its prevention and treatment. Proposed mechanisms for the development of diabetic neuropathy have been widely studied. It has been shown that there is improvement of nerve function associated with some short-term clinical trials

  9. Protective Effect of Enicostemma littorale Blume on Rat Model of Diabetic Neuropathy

    Microsoft Academic Search

    Niraj Mukundray Bhatt; Suparna Barua; Sarita Gupta

    2009-01-01

    Problem statement: Poor glycemic control and oxidative stress is impl icated as a common pathway in the development of diabetic neuropathy. Approach: In the present study, we investigated the protective effects of Enicostemma littorale Blume (EL) (2.5 g kg -1 ), a hypoglycemic and antioxidant herbal medicine in alloxan-induced diab etic neuropathy in male Charles foster rats. Results: Tail flick

  10. Retinoic acid reduces solvent-induced neuropathy and promotes neural regeneration in mice.

    PubMed

    Palencia, Guadalupe; Hernández-Pedro, Norma; Saavedra-Perez, David; Peńa-Curiel, Omar; Ortiz-Plata, Alma; Ordońez, Graciela; Flores-Estrada, Diana; Sotelo, Julio; Arrieta, Oscar

    2014-08-01

    In humans, exposure to organic solvents (OS) is frequent in work activities or as a recreational inhalant, inducing severe neuropathy (secondary to demyelization of peripheral nerves). We have previously shown that all-trans retinoic acid (ATRA) increases local content of neural growth factor (NGF), improving peripheral neuropathy of diverse origins. In this study, we evaluated the effect of ATRA on OS-induced peripheral neuropathy in experimental mice. Two simultaneous experiments were performed. The first one aimed to evaluate ATRA for the prevention of damage induced by OS, the second to test ATRA as an OS-induced neuropathy treatment. Nociceptive threshold latency and NGF concentration in serum and in peripheral nerves were determined. Morphological changes and evidence of sciatic nerve regeneration were evaluated. Mice exposed to OS developed neuropathy and axonal degeneration. ATRA diminished the effects of OS inhalation on sensorial changes and nerve morphology. Treatment with ATRA reversed sensorial and nerve morphological changes of OS-induced neuropathy, and this was associated with increased contents of NGF. Similar to previous experiences on diabetic and toxic neuropathy, ATRA reduced and partially reversed the peripheral neuropathy caused by OS exposure. These favorable effects apparently are due to local production of NGF induced by neural regeneration in response to the administration of retinoic acid. PMID:24647975

  11. CXCR4 chemokine receptor signaling mediates pain hypersensitivity in association with antiretroviral toxic neuropathy

    Microsoft Academic Search

    Sonia K. Bhangoo; Dongjun Ren; Richard J. Miller; David M. Chan; Matthew S. Ripsch; Clarissa Weiss; Christian McGinnis; Fletcher A. White

    2007-01-01

    Nucleoside reverse transcriptase inhibitors (NRTIs) are known to produce painful neuropathies and to enhance states of pain hypersensitivity produced by HIV-1 infection. It has also been observed that in some neuropathic pain models, chemokines and their receptors are upregulated, perhaps contributing to the pain state. In order to understand if chemokines are involved in NRTI-mediated sensory neuropathies, we treated rats

  12. High-dose thalidomide increases the risk of peripheral neuropathy in the treatment of ankylosing spondylitis

    PubMed Central

    Xue, Hong-xia; Fu, Wen-yi; Cui, Hua-dong; Yang, Li-li; Zhang, Ning; Zhao, Li-juan

    2015-01-01

    Thalidomide is an effective drug for the treatment of ankylosing spondylitis but might induce peripheral neuropathy. This major adverse reaction has attracted much concern. The current study aimed to observe the incidence of thalidomide-induced peripheral neuropathy among ankylosing spondylitis patients for 1 year after treatment. In this study, 207 ankylosing spondylitis cases received thalidomide treatment, while 116 ankylosing spondylitis cases received other treatments. Results showed that the incidence of thalidomide-induced peripheral neuropathy in the thalidomide group was higher than that in the non-thalidomide group. There was no significant difference in the incidence of neuropathy between the < 6 months medication and ? 6 months medication groups. There were no differences in the mean age, gender, or daily dose between the two groups. The incidence of peripheral neuropathy among patients receiving 25, 50, 75, or 100 mg thalidomide per day was 4.6%, 8.5%, 17.1%, 21.7%, respectively. The incidence was significantly different between the groups receiving 25 mg and 100 mg thalidomide. In conclusion, thalidomide can induce peripheral neuropathy within 1 year after treatment of ankylosing spondylitis; however, age and gender have no obvious impact on the incidence of peripheral neuropathy. The incidence of peripheral neuropathy is associated with increasing daily doses of thalidomide.

  13. Sprouting of A? fibers into lamina II of the rat dorsal horn in peripheral neuropathy

    Microsoft Academic Search

    Helena A. Lekan; Susan M. Carlton; Richard E. Coggeshall

    1996-01-01

    Cholera toxin ?-subunit conjugated to horseradish peroxidase was used to label the large myelinated (A?) fiber input to the dorsal horn in a model of peripheral neuropathy induced by tight ligation of the L5 and L6 spinal nerves. Following induction of neuropathy, A? fibers were present in lamina II of the ipsilateral dorsal horn, a region normally devoid of A?

  14. Two New Drugs for the Treatment of Painful Diabetic Peripheral Neuropathy

    Microsoft Academic Search

    Kendra Grande

    2006-01-01

    It is estimated that painful diabetic peripheral neuropathy affects at least 24% of the US diabetic population or around 3 million people. 1 Two drugs have now been approved for the treatment of neuropathic pain associated with diabetic peripheral neuropathy. These are the fi rst drugs with this indication in the U.S. The drugs are duloxetine (Cymbal- ta®) and pregabalin

  15. Small fiber neuropathy in the chronic phase of Chagas disease: a case report.

    PubMed

    Nolano, Maria; Provitera, V; Manganelli, F; Pagano, A; Perretti, A; Santoro, L

    2013-06-01

    We describe the occurrence of small fiber neuropathy in a patient affected by Chagas disease in the indeterminate phase. After the exclusion of all the possible etiologies of small fiber neuropathy, the disorder was considered related to Trypanosoma cruzi infection. Although a peripheral involvement has been described in Chagas disease, this is the first report of a selective involvement of small fibers. PMID:23475268

  16. Noise-Enhanced Vibrotactile Sensitivity in Older Adults, Patients With Stroke, and Patients With Diabetic Neuropathy

    E-print Network

    Collins, James J.

    neuropathy (age range, 53­77y). Interventions: Each subject's detection thresholds (ie, min- imum level of stimulus to be detected) for a vibrotactile stim- ulus without and with mechanical noise (ie, random that vibrotactile detection thresholds in older adults, patients with stroke, and patients with diabetic neuropathy

  17. Peripheral neuropathy in young-old and old-old patients.

    PubMed

    Verghese, J; Bieri, P L; Gellido, C; Schaumburg, H H; Herskovitz, S

    2001-11-01

    Diabetes is said to account for most cases of neuropathy in the elderly. We reviewed records of 223 young-old (65-79 years) and 77 old-old (>or=80 years) patients referred for evaluation of neuropathic symptoms over a 9-year period. We prospectively validated our findings in 102 consecutive elderly (77 young-old) patients receiving intensive evaluation for neuropathy. Diabetes was the most common cause of neuropathy (41%), but was less common in the old-old (25% versus 46%, P < 0.001). Idiopathic neuropathies were more common in the old-old (39% versus 9%, P < 0.001). Alcoholic and nutritional neuropathies were uncommon in the old-old. Electrophysiological studies showed that most patients had an axonal type of neuropathy. Sural and peroneal response amplitudes were poorly correlated with age. We obtained similar results in our prospective study. The distribution of causes of neuropathies in young-old and old-old patients, in a hospital-based sample, is age-related. Future studies need to include the old-old to better understand the nature of neuropathy in the elderly. PMID:11745949

  18. Cutaneous silent period changes in Type 2 diabetes mellitus patients with small fiber neuropathy

    Microsoft Academic Search

    M. R. Onal; U. H. Ulas; O. Oz; V. S. Bek; M. Yucel; A. Tasl?p?nar; Z. Odabas?

    2010-01-01

    ObjectiveSmall myelinated (A-?) and unmyelinated (C) somatic sensory fibers are initially affected and may be the earliest exhibited sign of neuropathy in glucose dysmetabolism. Cutaneous silent period (CSP) is an inhibitory spinal reflex and its afferents consist of A-? nerve fibers. The aim of this study was to evaluate CSP changes in Type 2 diabetic patients with small fiber neuropathy.

  19. Small fiber neuropathy following vaccination for rabies, varicella or Lyme disease

    Microsoft Academic Search

    Nizar Souayah; Senda Ajroud-Driss; Howard W. Sander; Thomas H. Brannagan; Arthur P. Hays; Russell L. Chin

    2009-01-01

    Neuropathy following vaccination has been reported; however, biopsy-confirmed small fiber neuropathy has not been described. We report five patients who developed paresthesias within one day to two months following vaccination for rabies, varicella zoster, or Lyme disease. On examination, there was mild sensory loss in distal extremities, preserved strength, normal or minimally abnormal electrodiagnostic findings, and decreased epidermal nerve fiber

  20. Molecular cloning and expression analysis of cDNA ends of chicken neuropathy target esterase

    Microsoft Academic Search

    Ping-An Chang; Quan Sun; Xiao-Min Ni; Feng-Qiong Qv; Yi-Jun Wu; Fang-Zhou Song

    2008-01-01

    Neuropathy target esterase (NTE) was proposed as the initial target during the process of organophosphate-induced delayed neuropathy (OPIDN) in human and some sensitive animals. Adult hens are usually the animal model for experimental studies of OPIDN. However, little is known about the sequence and characteristics of chicken NTE. We report here the cloning of the 5? and 3? cDNA ends

  1. QSAR for the Organophosphate-Induced Inhibition and ‚Aging‚ of the Enzyme Neuropathy Target Esterase (NTE)

    Microsoft Academic Search

    A. K. Singh

    2001-01-01

    QSAR was devised for the neuropathy potency of various organophosphate (OP) compounds. The neuropathy-target-esterase (NTE) inhibition data were either obtained from the literature for a number of OP compounds or were determined experimentally for methamidophos, acephate, coumaphos and EPN. Aging Index that determined whether or not an OP would age NTE, correlated with molecular depth (MD) and the index density

  2. Organo Chlorine Pesticides in Human Placenta and Accompanying Fluid

    Microsoft Academic Search

    M. C. Saxena; T. D. Seth; P. L. Mahajan

    1980-01-01

    Fifty specimens of placenta and accompanying fluid were collected at random from women of general population and analyzed for organo chlorine pesticides by gas liquid chromatograph using electron capture detector. BHC, Lindane, DDT, DDE, DDD and aldrin were detected in the placental tissue and accompanying fluid. Lindane, DDE and aldrin were more frequently detected. All the women were in their

  3. Chemical Reaction Dynamics accompanying Electron-Transfer Osamu SUGINO

    E-print Network

    Katsumoto, Shingo

    Chemical Reaction Dynamics accompanying Electron-Transfer Osamu SUGINO Institute for Solid State Physics, the University of Tokyo 5-1-5 Kashiwanoha, Chiba 277-8581 1. Introduction Many chemical reactions and the dynamics goes nonadiabatically. The former appears typically in chemical reactions that accompany electron

  4. ORCHESTRAL ACCOMPANIMENT FOR A REPRODUCING PIANO Christopher Raphael, Yupeng Gu

    E-print Network

    Raphael, Christopher

    concerto repertoire. 1. INTRODUCTION Active research on Musical accompaniment systems contin- ued for over], Such systems seek to provide a flexible accompaniment to a live soloist that follow expressive timing and other every musical instrument can pro- duce audio. Schwarz [5] has a nice annotated bibliography detailing

  5. Giant axonal neuropathy: diffusion-weighted imaging features of the brain.

    PubMed

    Alkan, Alpay; Sigirci, Ahmet; Kutlu, Ramazan; Doganay, Selim; Erdem, Gulnur; Yakinci, Cengiz

    2006-10-01

    Giant axonal neuropathy is a rare autosomal recessive childhood disorder characterized by a peripheral neuropathy and features of central nervous system involvement. Magnetic resonance imaging (MRI) of an 11-year-old boy with giant axonal neuropathy revealed high signal intensity in the white matter of the cerebrum and cerebellum on T(2)-weighted imaging. An apparent diffusion coefficient map revealed increased apparent diffusion coefficient values in the periventricular, deep, and cerebellar white matter, basal ganglia, and thalamus. Increased apparent diffusion coefficient values in distinct locations suggest increased mobility of water molecules in the brain of a patient with giant axonal neuropathy. This finding could indicate a myelin disorder such as demyelination. Diffusion-weighted imaging should be performed to reveal apparent diffusion coefficient changes and determine brain involvement in patients with giant axonal neuropathy. PMID:17005115

  6. Serology of celiac disease in gluten-sensitive ataxia or neuropathy: role of deamidated gliadin antibody.

    PubMed

    Rashtak, Shahrooz; Rashtak, Shadi; Snyder, Melissa R; Pittock, Sean J; Wu, Tsung-Teh; Gandhi, Manish J; Murray, Joseph A

    2011-01-01

    The role and relevance of deamidated gliadin antibodies specific for celiac disease in gluten-sensitive ataxia/neuropathy is unknown. We investigated the association of celiac-specific serology with gluten-sensitive ataxia/neuropathy, in patients with and without gliadin-induced enteropathy. 51 patients with unexplained ataxia/neuropathy suspected to have gluten sensitivity were included in the study and their serum celiac-specific markers were measured. Deamidated gliadin-IgA (83% vs. 22%), deamidated gliadin-IgG (50% vs. 3%), tissue transglutaminase-IgA (78% vs. 11%), and anti-endomysial-IgA (70% vs. 0%), were significantly more positive in ataxia/neuropathy patients with celiac disease versus those without enteropathy (P<0.001). Our findings suggest that the serological profile of gluten-sensitive ataxia/neuropathy without intestinal involvement lacks the recognition of deamidated gliadin and tissue transglutaminase epitopes. PMID:21056914

  7. Optics

    NSDL National Science Digital Library

    Wolfgang Christian

    This page allows users to simulate standard optic elements (lens, mirror, dielectrics, sources, apertures) and observe how light rays propagate through these elements. Element properties, such as position and focal length, can be adjusted using and a click and drag metaphor.

  8. Therapy-related peripheral neuropathy in multiple myeloma patients.

    PubMed

    Morawska, Marta; Grzasko, Norbert; Kostyra, Magdalena; Wojciechowicz, Jolanta; Hus, Marek

    2014-11-14

    This review discusses the most common issues concerning multiple myeloma (MM)-related peripheral neuropathy (PN). This is an important MM complication, observed in up to 54% of newly diagnosed patients, caused by the disease itself or its treatment. Although its aetiology is largely unknown, a number of mechanisms are suspected. It is important to know the neurological status of a patient, as many new antimyeloma medicines can trigger or exacerbate any pre-existing neuropathy. Examples include thalidomide-induced and bortezomib-induced PN (TiPN and BiTN, respectively), which are key MM treatment options. TiPN is usually sensory and sensorimotor, whereas BiPN is typically sensory. The mechanisms of chemotherapy-induced neurotoxicity in MM are well known; thalidomide seems to induce PN through its antiangiogenic properties, whereas bortezomib neurotoxicity is connected with disrupted calcium homeostasis. TiPN incidence ranges from 25% to 75%, and its prevalence and severity appears to be dose-dependent. BiPN incidence is almost 40% and is dose-related as well. Poor (25%) reversibility of TiPN prompted the recommendations for dose and exposure reduction, whereas BiPN cases are mostly reversible (64%). Peripheral sensory neuropathy is very rare in patients receiving bendamustine monotherapy. Because of this favourable toxicity profile, bendamustine may be considered a promising option for combination therapies in pre-existing PN in myeloma patients. Considering the lack of curative therapy for treatment-emergent PN, prevention is a key management strategy in MM patients. All patients should be evaluated for PN before the administration of a neurotoxic drug, and those under treatment should be closely monitored by a neurologist. Copyright © 2014 John Wiley & Sons, Ltd. PMID:25399783

  9. Cochlear neuropathy and the coding of supra-threshold sound

    PubMed Central

    Bharadwaj, Hari M.; Verhulst, Sarah; Shaheen, Luke; Liberman, M. Charles; Shinn-Cunningham, Barbara G.

    2014-01-01

    Many listeners with hearing thresholds within the clinically normal range nonetheless complain of difficulty hearing in everyday settings and understanding speech in noise. Converging evidence from human and animal studies points to one potential source of such difficulties: differences in the fidelity with which supra-threshold sound is encoded in the early portions of the auditory pathway. Measures of auditory subcortical steady-state responses (SSSRs) in humans and animals support the idea that the temporal precision of the early auditory representation can be poor even when hearing thresholds are normal. In humans with normal hearing thresholds (NHTs), paradigms that require listeners to make use of the detailed spectro-temporal structure of supra-threshold sound, such as selective attention and discrimination of frequency modulation (FM), reveal individual differences that correlate with subcortical temporal coding precision. Animal studies show that noise exposure and aging can cause a loss of a large percentage of auditory nerve fibers (ANFs) without any significant change in measured audiograms. Here, we argue that cochlear neuropathy may reduce encoding precision of supra-threshold sound, and that this manifests both behaviorally and in SSSRs in humans. Furthermore, recent studies suggest that noise-induced neuropathy may be selective for higher-threshold, lower-spontaneous-rate nerve fibers. Based on our hypothesis, we suggest some approaches that may yield particularly sensitive, objective measures of supra-threshold coding deficits that arise due to neuropathy. Finally, we comment on the potential clinical significance of these ideas and identify areas for future investigation. PMID:24600357

  10. Cochlear neuropathy and the coding of supra-threshold sound.

    PubMed

    Bharadwaj, Hari M; Verhulst, Sarah; Shaheen, Luke; Liberman, M Charles; Shinn-Cunningham, Barbara G

    2014-01-01

    Many listeners with hearing thresholds within the clinically normal range nonetheless complain of difficulty hearing in everyday settings and understanding speech in noise. Converging evidence from human and animal studies points to one potential source of such difficulties: differences in the fidelity with which supra-threshold sound is encoded in the early portions of the auditory pathway. Measures of auditory subcortical steady-state responses (SSSRs) in humans and animals support the idea that the temporal precision of the early auditory representation can be poor even when hearing thresholds are normal. In humans with normal hearing thresholds (NHTs), paradigms that require listeners to make use of the detailed spectro-temporal structure of supra-threshold sound, such as selective attention and discrimination of frequency modulation (FM), reveal individual differences that correlate with subcortical temporal coding precision. Animal studies show that noise exposure and aging can cause a loss of a large percentage of auditory nerve fibers (ANFs) without any significant change in measured audiograms. Here, we argue that cochlear neuropathy may reduce encoding precision of supra-threshold sound, and that this manifests both behaviorally and in SSSRs in humans. Furthermore, recent studies suggest that noise-induced neuropathy may be selective for higher-threshold, lower-spontaneous-rate nerve fibers. Based on our hypothesis, we suggest some approaches that may yield particularly sensitive, objective measures of supra-threshold coding deficits that arise due to neuropathy. Finally, we comment on the potential clinical significance of these ideas and identify areas for future investigation. PMID:24600357

  11. [New trends in neuropathy practice: clinical approach to CIDP].

    PubMed

    Baba, M

    2001-12-01

    Our recent study showed that the overall prevalence of CIDP was estimated as 2.2 per 100,000 population in Aomori Prefecture, in Northan Honshu of Japan. In our series of more than 80 cases with CIDP, a chronic acquired inflammatory demyelinating polyneuropathy, nearly 30% showed clear laterality of weakness, and electrophysiologic laterality or multifocality was apparent in almost all cases. Nearly 90% of patients were able to walk without walking aids or other assistance. Sixty% showed distal dominant muscular weakness. In 12 patients with age of onset under 15, pes cavus deformity was seen in 5. Two thirds complained numbness in the extremities during progressive phase. Four cases initially showed severe sensory ataxia associated with motor conduction block. It should be, thus, reminded that clinical spectrum of CIDP is enormously wide: chronic acquired demyelinating multiple mononeuropathy showing asymmetric involvement (Lewis-Summer syndrome) should be put on one side of the clinical presentation of CIDP. Multifocal motor neuropathy (MMN) is, on the other hand, an unique syndrome mimicking amyotrophic lateral sclerosis (ALS). There may be, however, true association syndrome of CIDP and ALS presenting both peripheral nerve demyelination and pyramidal sign with progressive bulbar involvement. Recently, several atypical varieties of CIDP showing only one-limb involvement, upper limb weakness rather than lower limb power loss, or proximal weakness, etc ... have been reported in the literature. To realize such clinical variations of chronic acquired demyelinating neuropathy is important for early diagnosis and commencement of treatment of CIDP. Clinical guideline for suspicion of CIDP could be useful for general physicians and neurologists unfamiliar to peripheral neuropathies. PMID:12235840

  12. Pain in chemotherapy-induced neuropathy--more than neuropathic?

    PubMed

    Geber, Christian; Breimhorst, Markus; Burbach, Berenike; Egenolf, Christina; Baier, Bernhard; Fechir, Marcel; Koerber, Juergen; Treede, Rolf-Detlef; Vogt, Thomas; Birklein, Frank

    2013-12-01

    Chemotherapy-induced neuropathy (CIN) is an adverse effect of chemotherapy. Pain in CIN might comprise neuropathic and nonneuropathic (ie, musculoskeletal) pain components, which might be characterized by pain patterns, electrophysiology, and somatosensory profiling. Included were 146 patients (100 female, 46 male; aged 56 ± 0.8 years) with CIN arising from different chemotherapy regimens. Patients were characterized clinically through nerve conduction studies (NCS) and quantitative sensory testing (QST). Questionnaires for pain (McGill) and anxiety/depression (Hospital Anxiety and Depression Scale) were supplied. Patients were followed-up after 17 days. Large- (61%) and mixed- (35%) fibre neuropathies were more frequent than small-fibre neuropathy (1.4%). The 5 major chemotherapeutic regimens impacted differently on large- but not on small-fibre function and did not predict painfulness. Chronic pain associated with CIN was reported in 41.7%. Painless and painful CIN did not differ in QST profiles or electrophysiological findings, but different somatosensory patterns were found in CIN subgroups (pain at rest [RestP], n = 25; movement-associated pain [MovP], n = 15; both pain characteristics [MovP+RestP], n = 21; or no pain [NonP], n = 85): small-fibre function (cold-detection threshold, CDT: z score: -1.46 ± 0.21, P < 0.01) was most impaired in RestP; mechanical hyperalgesia was exclusively found in MovP (z score: +0.81 ± 0.30, P < 0.05). "Anxiety" discriminated between painful and painless CIN; "CDT" and "anxiety" discriminated between patients with ongoing (RestP) and movement-associated pain (MovP) or pain components (MovP+RestP). The detrimental effect of chemotherapy on large fibres failed to differentiate painful from painless CIN. Patients stratified for musculoskeletal or neuropathic pain, however, differed in psychological and somatosensory parameters. This stratification might allow for the application of a more specific therapy. PMID:23999056

  13. Explosive Nucleosynthesis in GRB Jets Accompanied by Hypernovae

    E-print Network

    Shigehiro Nagataki; Akira Mizuta; Katsuhiko Sato

    2006-05-11

    Two-dimensional hydrodynamic simulations are performed to investigate explosive nucleosynthesis in a collapsar using the model of MacFadyen and Woosley (1999). It is shown that 56Ni is not produced in the jet of the collapsar sufficiently to explain the observed amount of a hypernova when the duration of the explosion is \\sim 10 sec, which is considered to be the typical timescale of explosion in the collapsar model. Even though a considerable amount of 56Ni is synthesized if all explosion energy is deposited initially, the opening angles of the jets become too wide to realize highly relativistic outflows and gamma-ray bursts in such a case. From these results, it is concluded that the origin of 56Ni in hypernovae associated with GRBs is not the explosive nucleosynthesis in the jet. We consider that the idea that the origin is the explosive nucleosynthesis in the accretion disk is more promising. We also show that the explosion becomes bi-polar naturally due to the effect of the deformed progenitor. This fact suggests that the 56Ni synthesized in the accretion disk and conveyed as outflows are blown along to the rotation axis, which will explain the line features of SN 1998bw and double peaked line features of SN 2003jd. Some fraction of the gamma-ray lines from 56Ni decays in the jet will appear without losing their energies because the jet becomes optically thin before a considerable amount of 56Ni decays as long as the jet is a relativistic flow. We show that abundance of nuclei whose mass number \\sim 40 in the ejecta depends sensitively on the energy deposition rate. So it may be determined by observations of chemical composition in metal poor stars which model is the proper one as a model of a gamma-ray burst accompanied by a hypernova.

  14. The ECG Vertigo in Diabetes and Cardiac Autonomic Neuropathy

    PubMed Central

    Voulgari, Christina; Tentolouris, Nicholas; Stefanadis, Christodoulos

    2011-01-01

    The importance of diabetes in the epidemiology of cardiovascular diseases cannot be overemphasized. About one third of acute myocardial infarction patients have diabetes, and its prevalence is steadily increasing. The decrease in cardiac mortality in people with diabetes is lagging behind that of the general population. Cardiovascular disease is a broad term which includes any condition causing pathological changes in blood vessels, cardiac muscle or valves, and cardiac rhythm. The ECG offers a quick, noninvasive clinical and research screen for the early detection of cardiovascular disease in diabetes. In this paper, the clinical and research value of the ECG is readdressed in diabetes and in the presence of cardiac autonomic neuropathy. PMID:21747831

  15. Weak ankles. A study of common peroneal entrapment neuropathy.

    PubMed

    Sidey, J D

    1969-09-13

    Twenty-three patients were seen with entrapment neuropathy in a two-and-a-half-year period. Symptoms consisted of pain, paresis, and paraesthesia in the distribution of the common peroneal nerve. Some degree of paresis was often present, which in five patients was severe enough to cause drop foot. In 20 patients decompression of the entrapped nerve at the neck of the fibula was quickly and completely successful. It is suggested that the ankle weakness which frequently follows sprains and other forced inversion injuries may often be at least partially due to entrapment of the common peroneal nerve. PMID:4309453

  16. Weak Ankles. A Study of Common Peroneal Entrapment Neuropathy

    PubMed Central

    Sidey, J. D.

    1969-01-01

    Twenty-three patients were seen with entrapment neuropathy in a two-and-a-half-year period. Symptoms consisted of pain, paresis, and paraesthesia in the distribution of the common peroneal nerve. Some degree of paresis was often present, which in five patients was severe enough to cause drop foot. In 20 patients decompression of the entrapped nerve at the neck of the fibula was quickly and completely successful. It is suggested that the ankle weakness which frequently follows sprains and other forced inversion injuries may often be at least partially due to entrapment of the common peroneal nerve. PMID:4309453

  17. Restless Leg Syndrome in Different Types of Demyelinating Neuropathies: A Single-Center Pilot Study

    PubMed Central

    Luigetti, Marco; Del Grande, Alessandra; Testani, Elisa; Bisogni, Giulia; Losurdo, Anna; Giannantoni, Nadia Mariagrazia; Mazza, Salvatore; Sabatelli, Mario; Della Marca, Giacomo

    2013-01-01

    Objective: to determine the prevalence of restless legs syndrome (RLS) in a cohort of patients with demyelinating neuropathies. Methods: Patients were retrospectively recruited from our cohort of different forms of demyelinating neuropathies, including chronic inflammatory demyelinating neuropathy (CIDP), Charcot-Marie-Tooth 1A (CMT1A), and hereditary neuropathy with liability to pressure palsies (HNPP) referred to our Department of Neurology in a 10-year period. The validated 4-item RLS questionnaire was used for diagnosis of RLS. All patients with RLS who fulfilled criteria underwent a suggested immobilization test to confirm the diagnosis. A group of outpatients referred to the sleep disorders unit and data from published literature were used as controls. Results: Prevalence of RLS in demyelinating neuropathy group was higher than prevalence observed in control population (p = 0.0142) or in the literature data (p = 0.0007). In particular, in comparison with both control population and literature data, prevalence of RLS was higher in CIDP group (p = 0.0266 and p = 0.0063, respectively) and in CMT1A group (p = 0.0312 and p = 0.0105, respectively), but not in HNPP (p = 1.000 and p = 0.9320, respectively). Conclusions: our study confirms a high prevalence of RLS in inflammatory neuropathies as CIDP and, among inherited neuropathies, in CMT1A but not in HNPP. Considering that this is only a small cohort from a single-center retrospective experience, the link between RLS and neuropathy remains uncertain, and larger multicenter studies are probably needed to clarify the real meaning of the association between RLS and neuropathy. Citation: Luigetti M; Del Grande A; Testani E; Bisogni G; Losurdo A; Giannantoni NM; Mazza S; Sabatelli M; Della Marca G. Restless leg syndrome in different types of demyelinating neuropathies: a single-center pilot study. J Clin Sleep Med 2013;9(9):945-949. PMID:23997707

  18. Optical Mineralogy

    NSDL National Science Digital Library

    Greg Finn

    This is the web page for an Optical Mineralogy course offered at Brock University. The link to lecture outlines includes information on the properties of light, including electromagnetic radiation, wave front, phase and interference, reflection and refraction and the polarization of light. Other sections include: Refractometry, which includes information on lens effect, internal reflection, and becke line movement; Isotropic materials: includes information on optics, indicatrix, and isotropic vs. anisotropic; Anisotropic minerals: includes information on interference phenomena, retardation, interference at the upper polar, and monochromatic light and polychromatic light; Optical properties: includes information on extinction, accessory plates, vibration direction in minerals, sign of elongation, and relief and pleochroism; Unixial minerals: includes information on uniaxial optics, uniaxial optic sign, uniaxial indicatrix, and pleochroism in uniaxial minerals; Biaxial minerals: includes information on biaxial optics, biaxial indicatrix, and optic sign. A link is also included to laboratory outlines, which accompany the subjects in the lecture outline. Also available is a link to a mineral gallery.

  19. Therapeutic Angiogenesis Inhibits or Rescues Chemotherapy-induced Peripheral Neuropathy: Taxol and Thalidomide-induced Injury of Vasa Nervorum is Ameliorated by VEGF

    Microsoft Academic Search

    Rudolf Kirchmair; Anne B Tietz; Eleftheria Panagiotou; Dirk H Walter; Marcy Silver; Young-Sup Yoon; Peter Schratzberger; Alberto Weber; Kengo Kusano; David H Weinberg; Allan H Ropper; Jeffrey M Isner; Douglas W Losordo

    2007-01-01

    Toxic neuropathy represents an important clinical problem in the use of the chemotherapeutic substances Taxol and thalidomide. Sensory neuropathy has a high incidence, lacks an effective treatment and is the dose-limiting factor for these drugs. The pathogenic basis of these neuropathies is unknown. We investigated the hypothesis that the experimental toxic neuropathies from Taxol and thalidomide results from destruction of

  20. Kinetic interactions of a neuropathy potentiator (phenylmethylsulfonyl fluoride) with the neuropathy target esterase and other membrane bound esterases.

    PubMed

    Mangas, Iris; Vilanova, Eugenio; Estévez, Jorge

    2014-02-01

    Phenylmethylsulfonyl fluoride (PMSF) is a protease and esterase inhibitor that causes protection, or potentiation/"promotion," of organophosphorus delayed neuropathy (OPIDN), depending on whether it is dosed before or after an inducer of delayed neuropathy, such as mipafox. The molecular target of the potentiation/promotion of OPIDN has not yet been identified. The kinetic data of phenyl valerate esterase inhibition by PMSF were obtained with membrane chicken brain fractions, the animal model and tissue in which neuropathy target esterase (NTE) was first described. Data were analyzed using a kinetic model with a multienzymatic system in which inhibition, simultaneous chemical hydrolysis of the inhibitor and "ongoing inhibition" (inhibition during the substrate reaction) were considered. Three main esterase components were discriminated: two sensitive enzymatic entities representing 44 and 41 %, with I 50 (20 min) of 35 and 198 ?M at 37 °C, respectively, and a resistant fraction of 15 % of activity. The estimated constant of the chemical hydrolysis of PMSF was also calculated (kh = 0.28 min(-1)). Four esterase components were globally identified considering also previously data with paraoxon and mipafox: EP? (4-8 %), highly sensitive to paraoxon and mipafox, spontaneously reactivates after inhibition with paraoxon, and resistant to PMSF; EP? (38-41 %), sensitive to paraoxon and PMSF, but practically resistant to mipafox, this esterase component has the kinetic characteristics expected for the PMSF potentiator target, even though paraoxon cannot be a potentiator in vivo due to high AChE inhibition; EP? (NTE) (39-48 %), paraoxon-resistant and sensitive to the micromolar concentration of mipafox and PMSF; and EP? (10 %), resistant to all the inhibitors assayed. This kinetic characterization study is needed for further isolation and molecular characterization studies, and these PMSF phenyl valerate esterase components will have to be considered in further studies of OPIDN promotion. A simple test for monitoring the four esterase components is proposed. PMID:24071788

  1. Carcinoma associated paraneoplastic peripheral neuropathies in patients with and without anti-onconeural antibodies

    PubMed Central

    Antoine, J.; Mosnier, J.; Absi, L.; Convers, P.; Honnorat, J.; Michel, D.

    1999-01-01

    OBJECTIVE—When to suspect a paraneoplastic disorder is a puzzling problem that has not recently been studied in a large series of patients referred for peripheral neuropathy.?METHODS—From 422 consecutive patients with peripheral neuropathy, 26 were analysed who concomitantly had carcinoma but no tumorous infiltration, drug toxicity, or cachexia. Their clinical, pathological, and electrophysiological data were analysed according to the presence of anti-onconeural antibodies, the latency between presentation and cancer diagnosis, and the incidence of carcinoma in the corresponding types of neuropathy of the population of 422patients.?RESULTS—Seven patients (group I) had anti-onconeural antibodies (six anti-Hu, one anti-CV2) and 19 did not (groups IIA and B). In group I, subacute sensory neuropathy (SSN) was the most frequent but other neuropathies including demyelinating neuropathies were present. Patients in group II A had a short latency (mean 7.88months), and a rapidly and usually severe neuropathy which corresponded in 11/14 to an established inflammatory disorder including neuropathy with encephalomyelitis, mononeuritis multiplex, and acute or chronic inflammatory demyelinating polyneuropathy (CIDP). Patients in group IIB had a long latency (mean 8.4 years) and a very chronic disorder corresponding in four of five to an axonal non-inflammatory polyneuropathy. In this population, the incidence of carcinoma occurring with a short latency was 47% in sensory neuronopathy, 1.7% in Guillain-Barré syndrome, 10% in mononeuritis multiplex and CIDP, and 4.5% in axonal polyneuropathy.?CONCLUSIONS—Paraneoplastic neuropathies associated with carcinoma are heterogeneous disorders. Neuropathies occurring with a long latency with tumours probably resulted from a coincidental association. Neuropathies which occurred within a few years of the tumour evolved rapidly and corresponded mostly to inflammatory disorders. As dysimmune neuropathies are probably paraneoplastic in a limited number of cases, patients with these disorders should probably not be investigated systematically for carcinoma in the absence of anti-onconeural antibodies, except when the neuropathy is associated with encephalomyelitis and probably with vasculitis. Questions remain concerning CIDP.?? PMID:10369814

  2. [Examination of questionnaires regarding diabetic peripheral neuropathy in epalrestat-treated patients and their usefulness in the treatment of the patients during the treatment course].

    PubMed

    Ito, Atsuo; Ishii-Nozawa, Reiko; Ibuki, Chikao; Atarashi, Hirotsugu; Kataoka, Hirokuni; Takeuchi, Koichi

    2009-10-01

    Epalrestat (Kinedak) is an aldose reductase inhibitor (ARI) for diabetic peripheral neuropathy. In 41 diabetics, we conducted a questionnaire survey to evaluate symptoms of peripheral neuropathy and select appropriate drug therapy. We investigated 27 patients who participated in the first and second questionnaire surveys. We reviewed questionnaire items, and examined the correlation between the therapeutic effects and responses to the questionnaire. Concerning the usefulness of the questionnaire items, some questions were correlated with the effects. Treatment was effective for somatic neuropathy, but not for autonomic neuropathy. The questionnaire regarding diabetic peripheral neuropathy was useful for somatic neuropathy screening, but it was difficult to detect autonomic neuropathy. PMID:19797880

  3. Cardiac autonomic neuropathy in patients with diabetes mellitus

    PubMed Central

    Dimitropoulos, Gerasimos; Tahrani, Abd A; Stevens, Martin J

    2014-01-01

    Cardiac autonomic neuropathy (CAN) is an often overlooked and common complication of diabetes mellitus. CAN is associated with increased cardiovascular morbidity and mortality. The pathogenesis of CAN is complex and involves a cascade of pathways activated by hyperglycaemia resulting in neuronal ischaemia and cellular death. In addition, autoimmune and genetic factors are involved in the development of CAN. CAN might be subclinical for several years until the patient develops resting tachycardia, exercise intolerance, postural hypotension, cardiac dysfunction and diabetic cardiomyopathy. During its sub-clinical phase, heart rate variability that is influenced by the balance between parasympathetic and sympathetic tones can help in detecting CAN before the disease is symptomatic. Newer imaging techniques (such as scintigraphy) have allowed earlier detection of CAN in the pre-clinical phase and allowed better assessment of the sympathetic nervous system. One of the main difficulties in CAN research is the lack of a universally accepted definition of CAN; however, the Toronto Consensus Panel on Diabetic Neuropathy has recently issued guidance for the diagnosis and staging of CAN, and also proposed screening for CAN in patients with diabetes mellitus. A major challenge, however, is the lack of specific treatment to slow the progression or prevent the development of CAN. Lifestyle changes, improved metabolic control might prevent or slow the progression of CAN. Reversal will require combination of these treatments with new targeted therapeutic approaches. The aim of this article is to review the latest evidence regarding the epidemiology, pathogenesis, manifestations, diagnosis and treatment for CAN. PMID:24567799

  4. Animal Models of Diabetic Neuropathy: Progress Since 1960s

    PubMed Central

    Islam, Md. Shahidul

    2013-01-01

    Diabetic or peripheral diabetic neuropathy (PDN) is one of the major complications among some other diabetic complications such as diabetic nephropathy, diabetic retinopathy, and diabetic cardiomyopathy. The use of animal models in the research of diabetes and diabetic complications is very common when rats and mice are most commonly used for many reasons. A numbers of animal models of diabetic and PDN have been developed in the last several decades such as streptozotocin-induced diabetic rat models, conventional or genetically modified or high-fat diet-fed C57BL/Ks (db/db) mice models, streptozotocin-induced C57BL6/J and ddY mice models, Chinese hamster neuropathic model, rhesus monkey PDN model, spontaneously diabetic WBN/Kob rat model, L-fucose-induced neropathic rat model, partial sciatic nerve ligated rat model, nonobese diabetic (NOD) mice model, spontaneously induced Ins2 Akita mice model, leptin-deficient (ob/ob) mice model, Otsuka Long-Evans Tokushima Fatty (OLETF) rat model, surgically-induced neuropathic model, and genetically modified Spontaneously Diabetic Torii (SDT) rat model, none of which are without limitations. An animal model of diabetic or PDN should mimic the all major pathogeneses of human diabetic neuropathy. Hence, this review comparatively evaluates the animal models of diabetic and PDN which are developed since 1960s with their advantages and disadvantages to help diabetic research groups in order to more accurately choose an appropriate model to meet their specific research objectives. PMID:23984428

  5. Insulin neuritis and diabetic cachectic neuropathy: a review.

    PubMed

    Knopp, Michael; Srikantha, Maithili; Rajabally, Yusuf A

    2013-05-01

    Diabetic patients can be affected by a wide range of peripheral nerve disorders, the rarer of which are often poorly recognised and understood. "Insulin neuritis" or "treatment induced neuropathy" is a reversible disorder characterised by acute severe distal limb pain, peripheral nerve fibre damage and autonomic dysfunction, preceded by a period of rapid glycaemic control. The condition has been reported in both type 1 and type 2 diabetics treated with insulin or oral hypoglycaemic agents who typically have a history of poor glycaemic control. Pathogenesis of the condition and its associated pain is poorly understood, with proposed mechanisms including endoneurial ischaemia, hypoglycaemic microvascular neuronal damage and regenerating nerve firing. Pain can affect other areas including the trunk and abdomen, or be more generalised. "Diabetic neuropathic cachexia" is a rare disorder associated with poor diabetic control that presents with large amounts of unintentional weight loss associated with an acute symmetrical painful peripheral neuropathy without weakness. Pain is characteristically burning in nature with predominant lower limb involvement and allodynia. The disorder can also affect type 1 and type 2 diabetics and occur irrespective of the duration of their diabetes. Depression and in males, impotence, appear to be common, although other autonomic features can be present. Typically it has a monophasic course but has been reported to be recurrent. As with insulin neuritis, this condition is reversible over weeks to months after adequate diabetic control. For both disorders, the pain can be treatment resistant despite the use of multiple analgesics. PMID:23506377

  6. Defective presynaptic choline transport underlies hereditary motor neuropathy.

    PubMed

    Barwick, Katy E S; Wright, Jane; Al-Turki, Saeed; McEntagart, Meriel M; Nair, Ajith; Chioza, Barry; Al-Memar, Ali; Modarres, Hamid; Reilly, Mary M; Dick, Katherine J; Ruggiero, Alicia M; Blakely, Randy D; Hurles, Matt E; Crosby, Andrew H

    2012-12-01

    The neuromuscular junction (NMJ) is a specialized synapse with a complex molecular architecture that provides for reliable transmission between the nerve terminal and muscle fiber. Using linkage analysis and whole-exome sequencing of DNA samples from subjects with distal hereditary motor neuropathy type VII, we identified a mutation in SLC5A7, which encodes the presynaptic choline transporter (CHT), a critical determinant of synaptic acetylcholine synthesis and release at the NMJ. This dominantly segregating SLC5A7 mutation truncates the encoded product just beyond the final transmembrane domain, eliminating cytosolic-C-terminus sequences known to regulate surface transporter trafficking. Choline-transport assays in both transfected cells and monocytes from affected individuals revealed significant reductions in hemicholinium-3-sensitive choline uptake, a finding consistent with a dominant-negative mode of action. The discovery of CHT dysfunction underlying motor neuropathy identifies a biological basis for this group of conditions and widens the spectrum of disorders that derive from impaired NMJ transmission. Our findings compel consideration of mutations in SLC5A7 or its functional partners in relation to unexplained motor neuronopathies. PMID:23141292

  7. [The cardiovascular reflex tests in autonomic cardiac neuropathy diagnosis].

    PubMed

    Strobescu, Elena; Graur, Mariana

    2002-01-01

    Ewing's five standard cardiovascular reflex tests were used for the assessment of autonomic function. Changes in heart rate during deep inspiration and expiration, Valsalva manoeuvre or standing up evaluate parasympathetic innervation, whereas blood pressure fluctuations during standing up and handgrip evaluate sympathetic innervation. According to physiological principles we must remind that each test is useful predominantly but not exclusively to reveal the impairment of parasympathetic or sympathetic innervation. A total of 271 patients (247 with diabetes mellitus) were estimated for the diagnosis of autonomic neuropathy. Computed time domain analysis of the heart rate variability reveals 21% of the patients with autonomic neuropathy, but this method doesn't rich the performance of spectral analysis witch is x3 times greater. The deep inspiration and expiration remains the preferable test according to its sensibility, specificity and predictive value. I found that handgrip test has, beside the known limitations (arterial hypertension, heart failure, valvular disease, emphysema, advanced diabetic retinopathy, drugs like digitalis, beta-receptor blockers, antihypertensives, sedatives, etc.) one more linked by the hand muscular force. Orthostatic hypertension has too many false results so the interpretation must be done with much precaution. PMID:14974222

  8. A new paradigm to understand and treat diabetic neuropathy.

    PubMed

    Hidmark, A; Fleming, T; Vittas, S; Mendler, M; Deshpande, D; Groener, J B; Müller, B P; Reeh, P W; Sauer, S K; Pham, M; Muckenthaler, M U; Bendszus, M; Nawroth, P P

    2014-04-01

    The clinical symptoms of diabetic neuropathy (DN) manifest in a time dependent manner as a positive symptoms (i. e. pain, hypersensitivity, tingling, cramps, cold feet etc.) during its early stages and by a loss of function (i. e. loss of sensory perception, delayed wound healing etc.) predominating in the later stages. Elevated blood glucose alone cannot explain the development and progression of DN and the lowering of blood glucose is insufficient in preventing and/or reversing neuropathy in patients with type 2 diabetes. Recently it has been shown that the endogenous reactive metabolite methylglyoxal (MG) can contribute to the gain of function via post-translational modification in DN of neuronal ion channels involved in chemosensing and action potential generation in nociceptive nerve endings. Dicarbonyls, such as MG, that are elevated in diabetic patients, modify DNA as well as extra- and intracellular proteins, leading to the formation of advanced glycation endproducts (AGEs). Increased formation of AGEs leads to increased cellular stress, dysfunction and ultimately cell death. The interaction of AGE-modified proteins through cell surface receptors, such as RAGE, can lead to increased cellular activation and sustained inflammatory responses, which are the molecular hallmarks of the later, degenerative, stages of DN. The direct and indirect effects of dicarbonyls on nerves or neuronal microvascular network provides a unifying mechanism for the development and progression of DN. Targeting the accumulation of MG and/or prevention of RAGE interactions may therefore provide new, more effective, therapeutic approaches for the treatment of DN. PMID:24623503

  9. Multifocal motor neuropathy: a review of pathogenesis, diagnosis, and treatment

    PubMed Central

    Lawson, Victoria H; Arnold, W David

    2014-01-01

    Multifocal motor neuropathy (MMN) is an uncommon, purely motor neuropathy associated with asymmetric deficits with predilection for upper limb involvement. Even in the early descriptions of MMN, the associations of anti-GM1 antibodies and robust response to immunomodulatory treatment were recognized. These features highlight the likelihood of an underlying autoimmune etiology of MMN. The clinical presentation of MMN can closely mimic several neurological conditions including those with more malignant prognoses such as motor neuron disease. Therefore early and rapid recognition of MMN is critical. Serological evidence of anti GM-1 antibodies and electrodiagnostic findings of conduction block are helpful diagnostic clues for MMN. Importantly, these diagnostic features are not universally present, and patients lacking these characteristic findings can demonstrate similar robust response to immunodulatory treatment. In the current review, recent research in the areas of diagnosis, pathogenesis, and treatment of MMN and needs for the future are discussed. The characteristic findings of MMN and treatment implications are reviewed and contrasted with other mimicking disorders. PMID:24741315

  10. Dosing time-dependent changes in the analgesic effect of pregabalin on diabetic neuropathy in mice.

    PubMed

    Akamine, Takahiro; Koyanagi, Satoru; Kusunose, Naoki; Hashimoto, Hana; Taniguchi, Marie; Matsunaga, Naoya; Ohdo, Shigehiro

    2015-07-01

    Patients with diabetes often develop peripheral nerve complications, including numbness and pain in the extremities. Diabetes-induced peripheral neuropathic pain is characterized by hypersensitivity to innocuous stimuli, known as tactile allodynia. Pregabalin (PGN) is currently used to treat diabetes-induced peripheral neuropathy and alleviates allodynia. In the present study, we demonstrated that the antiallodynic effect of PGN on diabetic mice was modulated by circadian changes in its intestinal absorption. A single intraperitoneal administration of 200 mg/kg streptozotocin (STZ) to mice induced type I diabetic pathologic changes that were accompanied by tactile allodynia. The intensity of tactile allodynia in STZ-induced diabetic mice was alleviated by the oral administration of PGN; however, the antiallodynic effect varied according to its dosing time. The analgesic effect of PGN was enhanced by its administration at the times of day when its intestinal absorption was accelerated. Organic cation transporter novel type 1 (Octn1) mediated the uptake of PGN into intestinal epithelial cells. The expression of Octn1 in the small intestine of STZ-induced diabetic mice oscillated in a circadian time-dependent manner. This oscillation in Octn1 appeared to cause the time of day-dependent changes in the intestinal absorption of PGN. Similar dosing time dependencies of the antiallodynic effect of PGN and oscillation in Octn1 expression were also detected in type II diabetic db/db mice. These results suggested that the dosing time-dependent differences in the analgesic effect of PGN were attributable to circadian oscillations in the intestinal expression of Octn1 and also that optimizing its dosing schedule may assist in achieving rational pharmacotherapy for diabetes-induced peripheral neuropathic pain. PMID:25962390

  11. Squatting, a posture test for studying cardiovascular autonomic neuropathy in diabetes.

    PubMed

    Philips, J C; Marchand, M; Scheen, A J

    2011-12-01

    Cardiovascular autonomic neuropathy (CAN) is a frequent complication of diabetes mellitus, which is associated with increased morbidity and mortality. It involves both the parasympathetic and sympathetic nervous systems, and may be diagnosed by classical dynamic tests with measurements of heart rate (HR) and/or arterial blood pressure (BP). An original squat test (1-min standing, 1-min squatting, 1-min standing) was used with continuous monitoring of HR and BP, using a Finapres(®) device. This active test imposes greater postural stress than the passive head-up tilt test, and provokes large changes in BP and HR that can be analyzed to derive indices of CAN. In healthy subjects, squatting is associated with BP increases and HR decreases (abolished by atropine: SqTv index), whereas the squat-stand transition is accompanied by a deep but transient drop in BP associated with sympathetic-driven tachycardia (abolished by propranolol: SqTs index). In diabetic patients with CAN, BP increases are accentuated during squatting whereas reflex bradycardia is reduced. When standing from squatting position, the fall in BP tends to be more pronounced and orthostatic hypotension more prolonged, while reflex tachycardia is markedly dampened. The baroreflex gain, similar to that calculated during pharmacological testing with vasodilator/vasopressor agents, can be derived by plotting pulse intervals (R-R) against systolic BP levels during the biphasic response following the squat-stand transition. The slope, which represents baroreflex sensitivity, is significantly reduced in patients with CAN. This discriminatory index allows study of the natural history of CAN in a large cohort of diabetic patients. PMID:22071282

  12. 9 CFR 93.208 - Articles accompanying poultry.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...2014-01-01 false Articles accompanying poultry. 93.208 Section 93.208 ...IMPORTATION OF ANIMALS (INCLUDING POULTRY) AND ANIMAL PRODUCTS IMPORTATION OF CERTAIN ANIMALS, BIRDS, FISH, AND POULTRY, AND CERTAIN ANIMAL, BIRD,...

  13. 9 CFR 93.208 - Articles accompanying poultry.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...2012-01-01 false Articles accompanying poultry. 93.208 Section 93.208 ...IMPORTATION OF ANIMALS (INCLUDING POULTRY) AND ANIMAL PRODUCTS IMPORTATION OF CERTAIN ANIMALS, BIRDS, FISH, AND POULTRY, AND CERTAIN ANIMAL, BIRD,...

  14. 9 CFR 93.208 - Articles accompanying poultry.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ...2013-01-01 false Articles accompanying poultry. 93.208 Section 93.208 ...IMPORTATION OF ANIMALS (INCLUDING POULTRY) AND ANIMAL PRODUCTS IMPORTATION OF CERTAIN ANIMALS, BIRDS, FISH, AND POULTRY, AND CERTAIN ANIMAL, BIRD,...

  15. 9 CFR 93.208 - Articles accompanying poultry.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ...2010-01-01 false Articles accompanying poultry. 93.208 Section 93.208 ...IMPORTATION OF ANIMALS (INCLUDING POULTRY) AND ANIMAL PRODUCTS IMPORTATION OF CERTAIN ANIMALS, BIRDS, FISH, AND POULTRY, AND CERTAIN ANIMAL, BIRD,...

  16. 9 CFR 93.208 - Articles accompanying poultry.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...2011-01-01 false Articles accompanying poultry. 93.208 Section 93.208 ...IMPORTATION OF ANIMALS (INCLUDING POULTRY) AND ANIMAL PRODUCTS IMPORTATION OF CERTAIN ANIMALS, BIRDS, FISH, AND POULTRY, AND CERTAIN ANIMAL, BIRD,...

  17. 19 CFR 12.6 - Affidavits required to accompany entry.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...MERCHANDISE Importation of Certain Cheeses § 12.6 Affidavits required to accompany entry. (a) Cheeses produced in the member states of...of the producer or exporter that the cheese has not received and will not...

  18. 19 CFR 12.6 - Affidavits required to accompany entry.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...MERCHANDISE Importation of Certain Cheeses § 12.6 Affidavits required to accompany entry. (a) Cheeses produced in the member states of...of the producer or exporter that the cheese has not received and will not...

  19. Sympathetic blocks provided sustained pain relief in a patient with refractory painful diabetic neuropathy.

    PubMed

    Cheng, Jianguo; Daftari, Anuj; Zhou, Lan

    2012-01-01

    The sympathetic nervous system has been implicated in pain associated with painful diabetic neuropathy. However, therapeutic intervention targeted at the sympathetic nervous system has not been established. We thus tested the hypothesis that sympathetic nerve blocks significantly reduce pain in a patient with painful diabetic neuropathy who has failed multiple pharmacological treatments. The diagnosis of small fiber sensory neuropathy was based on clinical presentations and confirmed by skin biopsies. A series of 9 lumbar sympathetic blocks over a 26-month period provided sustained pain relief in his legs. Additional thoracic paravertebral blocks further provided control of the pain in the trunk which can occasionally be seen in severe diabetic neuropathy cases, consequent to extensive involvement of the intercostal nerves. These blocks provided sustained and significant pain relief and improvement of quality of life over a period of more than two years. We thus provided the first clinical evidence supporting the notion that sympathetic nervous system plays a critical role in painful diabetic neuropathy and sympathetic blocks can be an effective management modality of painful diabetic neuropathy. We concluded that the sympathetic nervous system is a valuable therapeutic target of pharmacological and interventional modalities of treatments in painful diabetic neuropathy patients. PMID:22606406

  20. Characterisation of autoantibodies to peripheral myelin protein 22 in patients with hereditary and acquired neuropathies.

    PubMed

    Ritz, M F; Lechner-Scott, J; Scott, R J; Fuhr, P; Malik, N; Erne, B; Taylor, V; Suter, U; Schaeren-Wiemers, N; Steck, A J

    2000-05-01

    To investigate the possibility that an autoimmune mechanism may play a role in the hereditary neuropathy Charcot-Marie-Tooth type 1A (CMT1A), sera were analysed by Western blot for anti-peripheral myelin protein 22 (PMP22) autoantibodies. These sera were compared with sera from patients with CMT type 2 (CMT2), acquired peripheral neuropathies such as chronic inflammatory demyelinating neuropathy (CIDP), anti-MAG IgM neuropathy, Miller-Fisher syndrome (MFS), diabetic neuropathy and with control blood donors. Anti-PMP22 positive sera were detected in 70% of patients with CMT1 and unexpectedly in 60% of patients with CMT2. Interestingly, 44% of the patients with other peripheral neuropathies and 23% of the apparently healthy controls showed also anti-PMP22 antibody reactivity. Immunohistochemical analysis of the human anti-PMP22 antisera on healthy sural nerve sections and on PMP22-expressing COS cells revealed that these sera did not recognise endogenous PMP22. Our results indicate that anti-PMP22 autoantibodies are found in sera of patients with different types of peripheral neuropathies, but their role in the pathogenesis of these diseases remains to be determined. PMID:10713355

  1. Rapid Automated Diagnosis of Diabetic Peripheral Neuropathy With In Vivo Corneal Confocal Microscopy

    PubMed Central

    Petropoulos, Ioannis N.; Alam, Uazman; Fadavi, Hassan; Marshall, Andrew; Asghar, Omar; Dabbah, Mohammad A.; Chen, Xin; Graham, James; Ponirakis, Georgios; Boulton, Andrew J. M.; Tavakoli, Mitra; Malik, Rayaz A.

    2014-01-01

    Purpose. To assess the diagnostic validity of a fully automated image analysis algorithm of in vivo confocal microscopy images in quantifying corneal subbasal nerves to diagnose diabetic neuropathy. Methods. One hundred eighty-six patients with type 1 and type 2 diabetes mellitus (T1/T2DM) and 55 age-matched controls underwent assessment of neuropathy and bilateral in vivo corneal confocal microscopy (IVCCM). Corneal nerve fiber density (CNFD), branch density (CNBD), and length (CNFL) were quantified with expert, manual, and fully-automated analysis. The areas under the curve (AUC), odds ratios (OR), and optimal thresholds to rule out neuropathy were estimated for both analysis methods. Results. Neuropathy was detected in 53% of patients with diabetes. A significant reduction in manual and automated CNBD (P < 0.001) and CNFD (P < 0.0001), and CNFL (P < 0.0001) occurred with increasing neuropathic severity. Manual and automated analysis methods were highly correlated for CNFD (r = 0.9, P < 0.0001), CNFL (r = 0.89, P < 0.0001), and CNBD (r = 0.75, P < 0.0001). Manual CNFD and automated CNFL were associated with the highest AUC, sensitivity/specificity and OR to rule out neuropathy. Conclusions. Diabetic peripheral neuropathy is associated with significant corneal nerve loss detected with IVCCM. Fully automated corneal nerve quantification provides an objective and reproducible means to detect human diabetic neuropathy. PMID:24569580

  2. Characteristics of patients with sensory neuropathy diagnosed with abnormal small nerve fibres on skin biopsy.

    PubMed

    De Sousa, E A; Hays, A P; Chin, R L; Sander, H W; Brannagan, T H

    2006-08-01

    Clinical, laboratory and electrodiagnostic (EDX) characteristics of 62 patients with sensory neuropathy with abnormal skin biopsies were reviewed. Reduced epidermal nerve fibre density (ENFD) was seen in 71% and morphological changes with normal ENFD were seen in 29% of the patients. Patients with small fibre sensory neuropathy may have associated large fibre loss undetected by routine EDX. Identified associations included abnormal glucose metabolism, Lyme vaccination, monoclonal gammopathy, vitamin B12 deficiency, coeliac disease, and diseases of the connective tissue, inflammatory bowel and thyroid. Sensory neuropathy remained undetermined in 50% of the patients. PMID:16844956

  3. Current Proposed Mechanisms of Action of Intravenous Immunoglobulins in Inflammatory Neuropathies

    PubMed Central

    Jacob, Saiju; Rajabally, Yusuf A

    2009-01-01

    Intravenous immunoglobulins (IVIg) have been shown in a number of trials, to be an effective treatment for the three main types of inflammatory neuropathies: Guillain-Barré Syndrome (GBS), chronic inflammatory demyelinating polyneuropathy (CIDP), and multifocal motor neuropathy (MMN). IVIg is thought to exert its immunomodulatory effects by affecting several components of the immune system including B-cells, T-cells, macrophages, complement, cytokines and cellular adhesion molecules. This article reviews the published evidence and the principal postulated mechanisms of action of intravenous immunoglobulins with special emphasis on inflammatory neuropathies. PMID:20514213

  4. Hereditary Neuropathy with Liability to Pressure Palsy Presenting as an Acute Brachial Plexopathy: A Lover's Palsy

    PubMed Central

    Wedderburn, Sarah; Pateria, Puraskar; Panegyres, Peter K.

    2014-01-01

    It is generally regarded that patients with hereditary neuropathy to pressure palsies, due to a deletion in the PMP22 gene, show recurrent pressure palsy and generalised peripheral neuropathy (pes cavus and hammer toes sometimes develop). Brachial plexopathy is rarely identified as a first presentation of hereditary neuropathy to pressure palsies. We describe a young man who developed a painless flail upper limb with a clinical diagnosis of a brachial plexopathy after his partner slept on his arm – a PMP22 deletion was found. His father, who had a symmetrical polyneuropathy without recurrent mononeuropathies, shared the PMP22 deletion. PMID:25685136

  5. Explosive Nucleosynthesis in GRB Jets Accompanied by Hypernovae

    SciTech Connect

    Nagataki, Shigehiro; /Kyoto U., Yukawa Inst., Kyoto /KIPAC, Menlo Park; Mizuta, Akira; /Garching, Max Planck Inst.; Sato, Katsuhiko; /Tokyo U. /Tokyo U., RESCEU

    2006-09-21

    Two-dimensional hydrodynamic simulations are performed to investigate explosive nucleosynthesis in a collapsar using the model of MacFadyen and Woosley (1999). It is shown that {sup 56}Ni is not produced in the jet of the collapsar sufficiently to explain the observed amount of a hypernova when the duration of the explosion is {approx} 10 sec, which is considered to be the typical timescale of explosion in the collapsar model. Even though a considerable amount of {sup 56}Ni is synthesized if all explosion energy is deposited initially, the opening angles of the jets become too wide to realize highly relativistic outflows and gamma-ray bursts in such a case. From these results, it is concluded that the origin of {sup 56}Ni in hypernovae associated with GRBs is not the explosive nucleosynthesis in the jet. We consider that the idea that the origin is the explosive nucleosynthesis in the accretion disk is more promising. We also show that the explosion becomes bi-polar naturally due to the effect of the deformed progenitor. This fact suggests that the {sup 56}Ni synthesized in the accretion disk and conveyed as outflows are blown along to the rotation axis, which will explain the line features of SN 1998bw and double peaked line features of SN 2003jd. Some fraction of the gamma-ray lines from {sup 56}Ni decays in the jet will appear without losing their energies because the jet becomes optically thin before a considerable amount of {sup 56}Ni decays as long as the jet is a relativistic flow, which may be observed as relativistically Lorentz boosted line profiles in future. We show that abundance of nuclei whose mass number {approx} 40 in the ejecta depends sensitively on the energy deposition rate, which is a result of incomplete silicon burning and alpha-rich freezeout. So it may be determined by observations of chemical composition in metal poor stars which model is the proper one as a model of a gamma-ray burst accompanied by a hypernova.

  6. Bilateral optic nerve infarction in rhino-cerebral mucormycosis: A rare magnetic resonance imaging finding

    PubMed Central

    Ghuman, Mandeep Singh; Kaur, Shabdeep; Bhandal, Samarjit Kaur; Ahluwalia, Archana; Saggar, Kavita

    2015-01-01

    Mucormycosis is an emerging disease in diabetes and immunocompromised patients. Rhino-orbito-cerebral mucormycosis is one of the common forms of the disease. Mucormycosis leading to ischemic optic neuropathy is a rare complication. The role of magnetic resonance imaging (MRI) in the diagnosis of ischemic optic neuropathy is limited and uncommonly reported. We report an unusual case of mucormycosis in which MRI revealed bilateral optic nerve infarction, in addition to perineural extension of the fungus along the trigeminal nerve, another uncommon imaging finding.

  7. [Molecular pathogenesis of hereditary motor and sensory neuropathy].

    PubMed

    Kotruchow, Katarzyna; Kabzi?ska, Dagmara; Karpi?ska, Kamila; Kocha?ski, Andrzej

    2011-01-01

    Charcot-Marie-Tooth disease 2 is an inherited axonal motor and sensory neuropathy. It is very heterogenous, both clinically and genetically. Till present, 15 types of CMT2, 14 loci and 13 genes are known to be causative of CMT2. Studying mechanisms of molecular pathogenesis is very important for finding a therapy for patients but the diversity of proteins involved in pathogenesis makes this very difficult. Proteins involved in molecular pathogenesis are e.g. proteins of the mitochondrial outer membrane with opposite functions (mitofusin 2 and GDAP1) responsible for fusion and fission of the mitochondrial network. Mutations also occur in genes encoding tRNA-synthetases, neuronal cytoskeletal protein, cation channel protein and molecular chaperones. This review presents knowledge of CMT2 and possible pathogenetic mechanisms responsible for the disease. PMID:22235654

  8. High-resolution 3-T MR neurography of peroneal neuropathy.

    PubMed

    Chhabra, Avneesh; Faridian-Aragh, Neda; Chalian, Majid; Soldatos, Theodoros; Thawait, Shrey K; Williams, Eric H; Andreisek, Gustav

    2012-03-01

    The common peroneal nerve (CPN), a major terminal branch of the sciatic nerve, can be subject to a variety of pathologies, which may affect the nerve at any level from the lumbar plexus to its distal branches. Although the diagnosis of peripheral neuropathy is traditionally based on a patient's clinical findings and electrodiagnostic tests, magnetic resonance neurography (MRN) is gaining an increasing role in the definition of the type, site, and extent of peripheral nerve disorders. Current high-field MR scanners enable high-resolution and excellent soft-tissue contrast imaging of peripheral nerves. In the lower extremities, MR neurography has been employed in the demonstration of the anatomy and pathology of the CPN, as well as in the detection of associated secondary muscle denervation changes. This article reviews the normal appearance of the CPN as well as typical pathologies and abnormal findings at 3.0-T MR neurography of the lower extremity. PMID:21416383

  9. ?-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

    PubMed

    Niwa, Shinsuke; Takahashi, Hironori; Hirokawa, Nobutaka

    2013-05-15

    Microtubules are fundamental to neuronal morphogenesis and function. Mutations in tubulin, the major constituent of microtubules, result in neuronal diseases. Here, we have analysed ?-tubulin mutations that cause neuronal diseases and we have identified mutations that strongly inhibit axonal transport of vesicles and mitochondria. These mutations are in the H12 helix of ?-tubulin and change the negative charge on the surface of the microtubule. This surface is the interface between microtubules and kinesin superfamily motor proteins (KIF). The binding of axonal transport KIFs to microtubules is dominant negatively disrupted by these mutations, which alters the localization of KIFs in neurons and inhibits axon elongation in vivo. In humans, these mutations induce broad neurological symptoms, such as loss of axons in the central nervous system and peripheral neuropathy. Thus, our data identified the critical region of ?-tubulin required for axonal transport and suggest a molecular mechanism for human neuronal diseases caused by tubulin mutations. PMID:23503589

  10. Autoantibodies to neurofascin-186 and gliomedin in multifocal motor neuropathy.

    PubMed

    Notturno, Francesca; Di Febo, Tiziana; Yuki, Nobuhiro; Fernandez Rodriguez, Blanca M; Corti, Davide; Nobile-Orazio, Eduardo; Carpo, Marinella; De Lauretis, Angelo; Uncini, Antonino

    2014-11-15

    We tested autoantibodies to neurofascin-186 (NF186) and gliomedin in sera from patients with multifocal motor neuropathy (MMN, n=53) and chronic inflammatory demyelinating polyneuropathy (CIDP, n=95) by ELISA. IgG antibodies to NF186 or gliomedin were found in 62% of MMN and 1% of CIDP sera, and IgM antibodies to the same antigens in 12% of MMN and 1% of CIDP sera. These autoantibodies activated complement. Ten percent of the MMN sera without IgM anti-GM1 reactivity had anti-NF186 antibodies. Because NF186 and gliomedin play a crucial role for salutatory conduction, the autoantibodies may contribute to produce motor nerve conduction block and muscle weakness in MMN. PMID:25283719

  11. Multiple cranial neuropathies in cerebral venous sinus thrombosis

    PubMed Central

    Mubbashir Shariff, Erum; Alhameed, Majed

    2014-01-01

    Clinical presentation of cerebral venous sinus thrombosis (CVST) is varied and often mimics many neurological disorders, making it a diagnostic challenge, and cranial nerve palsy in CVST is rare and its pathophysiology remains unclear. We report a case of a 19-year-old male with a history of whiplash injury, admitted with extensive CVST, developed right facial nerve palsy with extension of thrombus into the ipsilateral transverse sinus, sigmoid sinus and internal jugular vein. Later, he developed left facial nerve palsy with partial left occulomotor weakness. We suggest that either reversible compromised oxygen or glucose consumption within the intrinsic vascular system of the nerve, resulting in cranial nerve abnormalities. CVST should be considered in cases of trivial trauma, even in the absence of hyper-coagulable states, and it can have atypical presentation like multiple cranial neuropathies. PMID:25988013

  12. ?-Tubulin mutations that cause severe neuropathies disrupt axonal transport

    PubMed Central

    Niwa, Shinsuke; Takahashi, Hironori; Hirokawa, Nobutaka

    2013-01-01

    Microtubules are fundamental to neuronal morphogenesis and function. Mutations in tubulin, the major constituent of microtubules, result in neuronal diseases. Here, we have analysed ?-tubulin mutations that cause neuronal diseases and we have identified mutations that strongly inhibit axonal transport of vesicles and mitochondria. These mutations are in the H12 helix of ?-tubulin and change the negative charge on the surface of the microtubule. This surface is the interface between microtubules and kinesin superfamily motor proteins (KIF). The binding of axonal transport KIFs to microtubules is dominant negatively disrupted by these mutations, which alters the localization of KIFs in neurons and inhibits axon elongation in vivo. In humans, these mutations induce broad neurological symptoms, such as loss of axons in the central nervous system and peripheral neuropathy. Thus, our data identified the critical region of ?-tubulin required for axonal transport and suggest a molecular mechanism for human neuronal diseases caused by tubulin mutations. PMID:23503589

  13. Neuropathies after surgery: Anatomical considerations of pathologic mechanisms.

    PubMed

    Johnson, Rebecca L; Warner, Mary E; Staff, Nathan P; Warner, Mark A

    2015-07-01

    Positioning-related injuries caused during surgery under anesthesia are most likely multifactorial. Pathologic mechanical forces alone (overstretching and/or ischemia from direct compression) may not fully explain postsurgical neuropathy with recent evidence implicating patient-specific factors or perioperative inflammatory responses spatially and even temporally divorced from the anatomical region of injury. The aim of this introductory article is to provide an overview of anatomic considerations of these mechanical forces on soft and nervous tissues along with factors that may compound compression or stretch injury. Three subsequent articles will address specific positioning-related anatomic considerations of the (1) upper extremities, (2) lower extremities, and (3) central nervous system and soft tissues. Clin. Anat. 28:678-682, 2015. © 2015 Wiley Periodicals, Inc. PMID:25974415

  14. Diabetic peripheral neuropathy: role of reactive oxygen and nitrogen species.

    PubMed

    Premkumar, Louis S; Pabbidi, Reddy M

    2013-11-01

    The prevalence of diabetes has reached epidemic proportions. There are two forms of diabetes: type 1 diabetes mellitus is due to auto-immune-mediated destruction of pancreatic ?-cells resulting in absolute insulin deficiency and type 2 diabetes mellitus is due to reduced insulin secretion and or insulin resistance. Both forms of diabetes are characterized by chronic hyperglycemia, leading to the development of diabetic peripheral neuropathy (DPN) and microvascular pathology. DPN is characterized by enhanced or reduced thermal, chemical, and mechanical pain sensitivities. In the long-term, DPN results in peripheral nerve damage and accounts for a substantial number of non-traumatic lower-limb amputations. This review will address the mechanisms, especially the role of reactive oxygen and nitrogen species in the development and progression of DPN. PMID:23722999

  15. Incident Neuropathy in HIV-Infected Patients on HAART

    PubMed Central

    McMurtray, Aaron; Davis, James; Valcour, Victor; Watters, Michael R.; Shiramizu, Bruce; Chow, Dominic C.; Kallianpur, Kalpana; Shikuma, Cecilia M.

    2010-01-01

    Abstract We determined the incidence of and risk factors for distal sensory polyneuropathy (DSP) in individuals on HAART. Sixty-one HIV-positive subjects on HAART for at least 6 months and neuropathy free were retrospectively selected. The study included subjects who had previously tolerated d-drugs without developing DSP. Neuropathy incidence over 4 years was calculated. Cox proportional hazards models were used to determine risk factors associated with incident DSP. Nineteen subjects developed DSP over a mean follow-up of 2.4 years. Subjects never treated with a d-drug developed DSP at a rate of 21 cases per 100 person-years (95% CI, 8.9–33.7). Subjects with a history of d-drug treatment but not on a d-drug at enrollment developed DSP at a rate of 17 cases per 100 person-years (95% CI, 2.1–31.8). Those on d-drug treatment developed DSP at a rate of 25 cases per 100 person-years (95% CI, 8.7–41.6). Multivariable analysis identified age [hazard ratio (HR)?=?1.09; p?

  16. Incident neuropathy in HIV-infected patients on HAART.

    PubMed

    Nakamoto, Beau K; McMurtray, Aaron; Davis, James; Valcour, Victor; Watters, Michael R; Shiramizu, Bruce; Chow, Dominic C; Kallianpur, Kalpana; Shikuma, Cecilia M

    2010-07-01

    We determined the incidence of and risk factors for distal sensory polyneuropathy (DSP) in individuals on HAART. Sixty-one HIV-positive subjects on HAART for at least 6 months and neuropathy free were retrospectively selected. The study included subjects who had previously tolerated d-drugs without developing DSP. Neuropathy incidence over 4 years was calculated. Cox proportional hazards models were used to determine risk factors associated with incident DSP. Nineteen subjects developed DSP over a mean follow-up of 2.4 years. Subjects never treated with a d-drug developed DSP at a rate of 21 cases per 100 person-years (95% CI, 8.9-33.7). Subjects with a history of d-drug treatment but not on a d-drug at enrollment developed DSP at a rate of 17 cases per 100 person-years (95% CI, 2.1-31.8). Those on d-drug treatment developed DSP at a rate of 25 cases per 100 person-years (95% CI, 8.7-41.6). Multivariable analysis identified age [hazard ratio (HR) = 1.09; p < 0.01] and low CD4(+) nadir [hazard ratio (HR) = 0.79; p = 0.03] as significant risk factors. Current or prior history of treatment with d-drug was not a significant risk factor for incident DSP in subjects who had previously tolerated d-drug treatment without developing a toxic DSP. Age and low CD4(+) are risk factors for incident DSP. However, current or prior history of d-drug treatment is not a significant risk factor for incident DSP in subjects who had previously tolerated d-drug treatment without developing a toxic DSP. PMID:20624077

  17. Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

    PubMed Central

    Rainier, Shirley; Bui, Melanie; Mark, Erin; Thomas, Donald; Tokarz, Debra; Ming, Lei; Delaney, Colin; Richardson, Rudy J.; Albers, James W.; Matsunami, Nori; Stevens, Jeff; Coon, Hilary; Leppert, Mark; Fink, John K.

    2008-01-01

    The possibility that organophosphorus (OP) compounds contribute to motor neuron disease (MND) is supported by association of paraoxonase 1 polymorphisms with amyotrophic lateral sclerosis (ALS) and the occurrence of MND in OP compound-induced delayed neuropathy (OPIDN), in which neuropathy target esterase (NTE) is inhibited by organophosphorylation. We evaluated a consanguineous kindred and a genetically unrelated nonconsanguineous kindred in which affected subjects exhibited progressive spastic paraplegia and distal muscle wasting. Affected subjects resembled those with OPIDN and those with Troyer Syndrome due to SPG20/spartin gene mutation (excluded by genetic linkage and SPG20/spartin sequence analysis). Genome-wide analysis suggested linkage to a 22 cM homozygous locus (D19S565 to D19S884, maximum multipoint LOD score 3.28) on chromosome 19p13 to which NTE had been mapped (GenBank AJ004832). NTE was a candidate because of its role in OPIDN and the similarity of our patients to those with OPIDN. Affected subjects in the consanguineous kindred were homozygous for disease-specific NTE mutation c.3034A?G that disrupted an interspecies conserved residue (M1012V) in NTE's catalytic domain. Affected subjects in the nonconsanguineous family were compound heterozygotes: one allele had c.2669G?A mutation, which disrupts an interspecies conserved residue in NTE's catalytic domain (R890H), and the other allele had an insertion (c.2946_2947insCAGC) causing frameshift and protein truncation (p.S982fs1019). Disease-specific, nonconserved NTE mutations in unrelated MND patients indicates NTE's importance in maintaining axonal integrity, raises the possibility that NTE pathway disturbances contribute to other MNDs including ALS, and supports the role of NTE abnormalities in axonopathy produced by neuropathic OP compounds. PMID:18313024

  18. Footsteps Toward Understanding Fall Risk and Quality of Life in People with Diabetic Peripheral Neuropathy

    E-print Network

    Jernigan, Stephen

    2011-04-25

    As of 2010, diabetes affected nearly 25.8 million people in the United States, an increase of 25% from 2005. Nearly half of these individuals experience diabetic peripheral neuropathy (DPN), a serious complication of ...

  19. Revisiting the evidence for neuropathy caused by pyridoxine deficiency and excess.

    PubMed

    Ghavanini, Amer A; Kimpinski, Kurt

    2014-09-01

    Pyridoxine deficiency and excess have been implicated as a cause for peripheral neuropathy. As a result, unrelated neuropathies are often treated with pyridoxine based on questionable evidence. However, neurological practitioners frequently discourage patients from taking pyridoxine in excess of 50 mg/d given concerns around the development of a toxic sensory neuronopathy. There is no systematic review to support either of the 2 practices. To address this gap in knowledge, we reviewed the available literature on neuropathy attributed to pyridoxine deficiency and excess. Based on the current limited data, it can be concluded that very low doses of daily pyridoxine are required to prevent peripheral neuropathy. There is inadequate evidence to support routine pyridoxine supplementation in patients with disorders of peripheral nervous system. Supplementation with pyridoxine at doses greater than 50 mg/d for extended duration may be harmful and should be discouraged. PMID:25137514

  20. Evaluation and management of peripheral neuropathy in diabetic patients with cancer.

    PubMed

    Visovsky, Constance; Meyer, Rachel R; Roller, Jeffre; Poppas, Megan

    2008-04-01

    Recently, chemotherapy-induced peripheral neuropathy has received a great deal of attention. However, the interaction of diabetic neuropathy with potentially neurotoxic chemotherapy is far less understood. The incidence of type II diabetes has risen exponentially in the past two decades. In concert with the rise in type II diabetes, the number of individuals with diabetes who need chemotherapy for cancer also is expected to increase. Diabetic neuropathy and the neurotoxic effects of chemotherapy have a significant potential to cause functional disability. Diabetics may be most at risk for the effects of neurotoxic agents on peripheral nerve functioning, in addition to the other effects induced by chemotherapeutic agents. The purpose of this article is to review the evaluation, management, and clinical implications of peripheral neuropathy in patients with cancer and diabetes. PMID:18390460