Ataxia Case Study

Progressive ataxia due to alpha tocopherol deficiency in Pakistan
Introduction
Ataxia is a common neurological symptom which is encountered in neurology practice. It has a multiple etiologies, among which vitamin E deficiency is a treatable and relatively reversible cause. Early diagnosis and replacement of vitamin E can alleviate the symptoms, halt the disease progression and can even reverse ataxia associated with it. It closely mimics Frederich's ataxia. Patients should be screened for vitamin E deficiency if workup for fredrich’s ataxia is negative. There have been reports of vitamin E deficiency from Western literature but a pubmed search did not show a case report from Pakistan.
Case Report
We report a 15 year old boy who came to the

There are five main types that can be distinguished according to the type of etiology: congenital (developmental disorder), ataxias due to metabolic disorders, mitochondrial ataxias, ataxias with a DNA repair defect, and degenerative ataxia with unknown etiology (1). Among the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCA) are a complex group of disabling inherited neurodegenerative disorders that mostly present under the age of 20 years. ARCAs are a result of different gene mutations; Friedreichs ataxia ( frataxin gene defect), Ataxia Telangiectasia ( ATM gene defect), ataxia with vitamin E deficiency (Alpha tocopherol transfer protein defect), ataxia with oculomotor apraxia ( senataxin and aprataxin gene defect)

Lancet Neurol 2007;6:245-257.

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