Article
[Autosomal recessive cerebellar ataxias].
Presse medicale (Paris, France : 1983) - 1 Dec 2009
Tranchant Christine, Anheim Mathieu
Abstract excerpt
Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched first. Ataxia with isolated vitamin E deficiency and abetalipoproteinemia have a specific treatment. Associated neurological signs such polyneuroapthy, ophtalmologic or oculomotor signs, pyramidal signs, and cerebellar MRI can lead to the etiological diagnosis. Biological tests should be: vitamin E, cholesterol,...
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