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Presse Med. 2009 Dec;38(12):1852-9. doi: 10.1016/j.lpm.2009.01.025. Epub 2009 May 12.

[Autosomal recessive cerebellar ataxias].

[Article in French]

Author information

1
Clinique neurologique, Hôpitaux universitaires, F-67091 Strasbourg Cedex, France. christine.tranchant@chru-strasbourg.fr

Abstract

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, alpha-fetoprotein levels, acanthocytes, than phytanic acid, cholestanol, lysosomal enzymes. Numerous autosomal recessive cerebellar ataxia remain without etiology.

PMID:
19442480
DOI:
10.1016/j.lpm.2009.01.025
[Indexed for MEDLINE]
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