Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

被引：74

作者：

Jen, JC

Yue, Q

Karrim, J

Nelson, SF

Baloh, RW

机构：

[1] Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90095 USA

[2] Univ Calif Los Angeles, Sch Med, Dept Pediat Hematol & Oncol, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, Sch Med, Dept Head & Neck Surg, Los Angeles, CA 90095 USA

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 1998年 / 65卷 / 04期

关键词：

SCA6; spinocerebellar ataxia; hereditary ataxia; calcium channel;

D O I：

10.1136/jnnp.65.4.565

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The SCAB mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported-namely, central positional nystagmus and episodic ataxia responsive to acetazolamide. The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.

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页码：565 / 568

页数：4

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