Tranchant C, Anheim M
[Autosomal recessive cerebellar ataxias.] [JOURNAL ARTICLE]
Presse Med 2009 May 11.
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.
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