| Title | [Autosomal recessive cerebellar ataxias.] | | Author(s) | Tranchant C, Anheim M | | Institution | Clinique neurologique, Hôpitaux universitaires, F-67091 Strasbourg Cedex, France. | | Source | Presse Med 2009 May 11. | | Abstract | 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. | | Language | FRE | | Pub Type(s) | JOURNAL ARTICLE
| | PubMed ID | 19442480 |
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