CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy

被引：116

作者：

Vahedi, K

Denier, C

Ducros, A

Bousson, V

Levy, C

Chabriat, H

Haguenau, M

Tournier-Lasserve, E

Bousser, MG

机构：

[1] Hop Lariboisiere, Lab Cytogenet, F-75475 Paris, France

[2] Hop Lariboisiere, Neurol Serv, F-75010 Paris, France

[3] Fac Med Lariboisiere, EPI 99 21, Paris, France

[4] Hop St Antoine, Serv Radiol, F-75571 Paris, France

来源：

NEUROLOGY | 2000年 / 55卷 / 07期

关键词：

D O I：

10.1212/WNL.55.7.1040

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Familial hemiplegic migraine is caused by CACNA1A missense mutations in 50% of families, including all families with cerebellar ataxia. A patient with healthy parents, who experienced prolonged attacks of migraine with hemiplegia, coma, and seizures, is reported. The patient also had mental retardation, permanent cerebellar ataxia with cerebellar atrophy, and right-sided brain atrophy. This patient carried a de novo Tyr 1385 Cys mutation in the CACNA1A gene and illustrates a novel phenotype associated with CACNA1A mutations.

引用

页码：1040 / 1042

页数：3

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