A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q

被引：42

作者：

Vidailhet, M

Tassin, J

Durif, F

Nivelon-Chevallier, A

Agid, Y

Brice, A

Dürr, A

机构：

[1] Hop La Pitie Salpetriere, INSERM U289, F-75651 Paris 13, France

[2] Hop La Pitie Salpetriere, Federat Neurol, F-75651 Paris 13, France

[3] Hop St Antoine, Serv Neurol, F-75571 Paris, France

[4] Hop Gabriel Montpied, Federat Neurol, Clermont Ferrand, France

[5] Hop Enfants Bocage, Ctr Genet, Dijon, France

来源：

NEUROLOGY | 2001年 / 56卷 / 09期

关键词：

D O I：

10.1212/WNL.56.9.1213

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Myoclonus-dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoclonus (n = 1). Age at onset ranged from 0.5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families, suggesting that chromosome 7q21-q31 is a major locus for myoclonus-dystonia with several phenotypes.

引用

页码：1213 / 1216

页数：4

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