Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances

被引：2

作者：

Kreisel, SH

Binder, J

Wöhrle, JC

Krauss, JK

Hofmann, S

Bauer, MF

Hennerici, MG

Bäzner, H

机构：

[1] Univ Klinikum Mannheim, Dept Neurol, D-68135 Mannheim, Germany

[2] Heidelberg Univ, D-6800 Mannheim, Germany

[3] Heidelberg Univ, Dept Neurosurg, Univ Klinikum Mannheim, D-68135 Mannheim, Germany

[4] Acad Hosp Munich Schwabing, Inst Clin Chem Mol Diagnost & Mitochondrial Genet, Munich, Germany

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 10期

关键词：

Mohr-Tranebjaerg syndrome; deafness-dystonia syndrome; GABAergic substances;

D O I：

10.1002/mds.20150

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the X-linked deafness-dystonia peptide 1 (DDP1) gene cause Mohr-Tranebjaerg syndrome (MTS), a rare form of deafness associated with dystonia. In the patient presented here. improvement of dystonic symptoms upon treatment with alcohol and GABAergic substances is demonstrated for the first time. (C) 2004 Movement Disorder Society.

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收藏

页码：1241 / 1243

页数：3

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