نتایج جستجو برای: ataxia

تعداد نتایج: 17853  

Journal: :Neurosurgery 2004

Journal: :Proceedings of the Royal Society of Medicine 1908

Journal: :Journal of Neuropathology & Experimental Neurology 2015

Journal: :iranian journal of child neurology 0
parvaneh karimzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2. pediatric neurology department, mofid children’s hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran simin khayyatzadeh 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran masoud houshmand 3. department of medical genetic, national institute for genetic engineering and biotechnology(nigeb), tehran, iran mohammad ghforani 1. pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran 2. pediatric neurology department, mofid children’s hospital, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran

ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...

Journal: :genetics in the 3rd millennium 0
هاله حبیبی haleh habibi hamadan welfare organization, medical genetic concealing center, hamedan, iran مسعود هوشمند masoud houshmand

index case is 17 years old girl with ataxia of gait since 3 years ago. she has been walking normally in past. sensory is normal in her legs. ocular movements are normal. she has mild scoliosis. her electrocardiogram shows t-wave inversions. her parents are cousins& asymptomatic. she has 5 brothers & 3 sisters. one of her brothers & one of her sisters are wheelchair dependent. their history is s...

Journal: :Black sea journal of health science 2023

Ataxia Telangiectasia is a rare autosomal recessive disease characterized by progressive neurological dysfunction, immunodeficiency, telangiectasia, chromosomal problems, and sensitivity to radiation, infection, susceptibility cancer. A 5-year-old girl with applied our rehabilitation center due balance coordination problems. Step length, double step width cadence were calculated in the patient ...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1981
G V Watters S H Zlotkin B S Kaplan P Humphreys K N Drummond

In a sibship of four, Friedreich's ataxia and minimal lesion nephrotic syndrome occurred in two siblings, a third sibling had Friedreich's ataxia, but no evidence of nephrotic syndrome; the fourth sibling had neither condition. The chance of Freidreich's ataxia and minimal lesion nephrotic syndrome occurring in two siblings is small, and suggested a common immunological abnormality. High dose p...

2014
D Gilliam DP O'Brien JR Coates GS Johnson GC Johnson T Mhlanga-Mutangadura L Hansen JF Taylor RD Schnabel

BACKGROUND Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. HYPOTHESIS/OBJECTIVES The objective was to identify the mutation causing the spinocere...

Journal: :Neurology 2006
M Hadjivassiliou M Mäki D S Sanders C A Williamson R A Grünewald N M Woodroofe I R Korponay-Szabó

OBJECTIVE To investigate the presence of autoantibody deposition against type 2 tissue transglutaminase (TG2; a reliable marker of the whole spectrum of gluten sensitivity) in the jejunal tissue and brain of patients with gluten ataxia and in control subjects. METHODS The authors evaluated jejunal biopsy samples from nine patients with gluten ataxia and seven patients with other causes of ata...

2013
Stuart Currie Nigel Hoggard Matthew J. R. Clark David S. Sanders Iain D. Wilkinson Paul D. Griffiths Marios Hadjivassiliou

BACKGROUND The mechanisms of cerebellar degeneration attributed to prolonged and excessive alcohol intake remain unclear. Additional or even alternative causes of cerebellar degeneration are often overlooked in suspected cases of alcohol-related ataxia. The objectives of this study were two fold: (1) to investigate the prevalence of gluten-related serological markers in patients with alcohol-re...

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