An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus

被引：46

作者：

Steckley, JL

Ebers, GC

Cader, MZ

McLachlan, RS

机构：

[1] Radcliffe Infirm, Dept Clin Neurol, Oxford OX2 6HG, England

[2] Shaikh Khalifa Med Ctr, Dept Med, Abu Dhabi, U Arab Emirates

[3] Wellcome Trust Ctr Human Genet, Oxford, England

来源：

NEUROLOGY | 2001年 / 57卷 / 08期

关键词：

D O I：

10.1212/WNL.57.8.1499

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report an autosomal dominant episodic ataxia that is clinically distinct from the other episodic ataxias. Vestibular ataxia, vertigo, tinnitus, and interictal myokymia are prominent; attacks are diminished by acetazolamide. Linkage analyses of markers flanking the EA1 and EA2 loci demonstrate genetic exclusion from the other autosomal dominant episodic ataxias. The authors suggest EA3 for periodic vestibulocerebellar ataxia and EA4 for the disorder described here.

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页码：1499 / 1502

页数：4

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