Autosomal recessive cerebellar ataxias

被引：1
|
作者：
Tranchant, Christine [1 ]
Anheim, Mathieu [1 ]
机构：
[1] Hop Univ, Neurol Clin, F-67091 Strasbourg, France
来源：
PRESSE MEDICALE | 2009年 / 38卷 / 12期
关键词：
VITAMIN-E-DEFICIENCY; FRIEDREICHS-ATAXIA; CEREBROTENDINOUS XANTHOMATOSIS; SPINOCEREBELLAR ATAXIA; CHARLEVOIX-SAGUENAY; TRANSFER-PROTEIN; SPASTIC ATAXIA; MUTATIONS; GENE; DISEASE;
D O I：
10.1016/j.lpm.2009.01.025
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Friedreich ataxia is the most frequent recessive cerebral ataxia d should always be researched fisrt. Ataxia with isolated vitamin E deficiency and obetalipoproteinemia 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.
引用
收藏
页码：1852 / 1859
页数：8
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