Ataxia caused by mutations in the alpha-tocopherol transfer protein gene

A 48 year old woman with ataxia with vitamin E deficiency is described. Gen e analysis identified two point mutations in exon 1 of the alpha-tocopherol transfer protein (alpha-TTP) gene, one missense mutation and an upstream i nitiation codon mutation in the LS'-untranslated region (Kozak sequence). T he latter mutation is the first one identified in the translation regulator y region. This mutation decreased the level of alpha-TTP protein expression . The clinical features included uncommon urinary disturbance and deafness and relatively rare retinitis pigmentosa. Supplementary therapy increased h er serum vitamin E concentration to the normal range with mild improvement of the deep senses.