Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

被引：8

作者：

Gerrits, M. C. F. ^{[1
,2
]}

Foncke, E. M. J. ^{[1
]}

Koelman, J. H. T. M. ^{[1
]}

Tijssen, M. A. J. ^{[1
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DD Amsterdam, Netherlands

[2] Bronovo Hosp, Dept Neurol, NL-2509 JH The Hague, Netherlands

来源：

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY | 2009年 / 13卷 / 02期

关键词：

Myoclonus; Dystonia; Writer's cramp; Children; LATE-ONSET; GENE; EXPRESSION; MUTATIONS; EPILEPSY; SGCE;

D O I：

10.1016/j.ejpn.2008.03.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

引用

页码：178 / 180

页数：3

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