Autosomal recessive cerebellar ataxias [Ataxies cérébelleuses autosomiques recessives]

摘要

Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched fisrt.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, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes.Numerous autosomal recessive cerebellar ataxia remain without etiology.