Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosis

A case of ataxia with isolated vitamin E deficiency, in conjunction with su pportive genetic studies, is reported. This is a neurodegenerative conditio n that involves a mutation in the tocopherol (alpha) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect s uch patients against further neurological damage.