11个携带ε-肌聚糖基因突变的肌阵挛性肌张力障碍家系的表型谱及性别效应

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.

作者信息

Raymond Deborah, Saunders-Pullman Rachel, de Carvalho Aguiar Patricia, Schule Birgitt, Kock Norman, Friedman Jennifer, Harris Juliette, Ford Blair, Frucht Steven, Heiman Gary A, Jennings Danna, Doheny Dana, Brin Mitchell F, de Leon Brin Deborah, Multhaupt-Buell Trisha, Lang Anthony E, Kurlan Roger, Klein Christine, Ozelius Laurie, Bressman Susan

机构信息

The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York 10003, USA.

出版信息

Mov Disord. 2008 Mar 15;23(4):588-92. doi: 10.1002/mds.21785.

DOI:10.1002/mds.21785

PMID:18175340

Abstract

Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype.

摘要

由SGCE基因突变引起的肌阵挛性肌张力障碍（M-D）的特征是早期发作的肌阵挛性抽搐，常伴有肌张力障碍。外显率受父母性别影响，但尚未确定其他性别效应。在11个已鉴定出突变的家族中的42名受影响个体中，我们发现，无论突变类型如何，性别与发病年龄高度相关；女孩的中位发病年龄为5岁，男孩为8岁（P < 0.0097）。我们未发现突变类型与表型之间存在关联。