Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

被引：27

作者：

Foncke, E. M. J.

Gerrits, M. C. F.

van Ruissen, F.

Baas, F.

Hedrich, K.

Tijssen, C. C.

Klein, C.

Tijssen, M. A. J.

机构：

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

[2] Univ Amsterdam, Acad Med Ctr, Dept Clin Neurophysiol, NL-1100 DD Amsterdam, Netherlands

[3] Univ Amsterdam, Acad Med Ctr, Dept Neurogenet, NL-1100 DD Amsterdam, Netherlands

[4] St Elizabeth Hosp, Dept Neurol, Tilburg, Netherlands

[5] Univ Lubeck, Dept Neurol, Lubeck, Germany

[6] Univ Lubeck, Dept Human Genet, Lubeck, Germany

来源：

NEUROLOGY | 2006年 / 67卷 / 09期

关键词：

D O I：

10.1212/01.wnl.0000242880.49051.1f

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.

引用

页码：1677 / 1680

页数：4

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