Hereditary myoclonus-dystonia associated with epilepsy

被引：22
|
作者：
Foncke, EMJ
Klein, C
Koelman, JHTM
Kramer, PL
Schilling, K
Müller, B
Garrels, J
Aguiar, PD
Liu, L
de Froe, A
Speelman, JD
Ozelius, LJ
Tijssen, MAJ
机构：
[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DD Amsterdam, Netherlands
[2] Epilepsy Ctr de Klokkenberg, Breda, Netherlands
[3] Med Univ Lubeck, Dept Neurol, Lubeck, Germany
[4] Med Univ Lubeck, Dept Human Genet, Lubeck, Germany
[5] Oregon Hlth & Sci Univ, Dept Neurol, Portland, OR 97201 USA
[6] Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10467 USA
来源：
NEUROLOGY | 2003年 / 60卷 / 12期
关键词：
D O I：
10.1212/01.WNL.0000066020.99191.76
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities were associated with the symptoms of myoclonus and dystonia. The genetic and clinical heterogeneity of M-D is extended. EEG changes and epilepsy should not be considered exclusion criteria for the clinical diagnosis of M-D.
引用
收藏
页码：1988 / 1990
页数：3
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