Maréchal Lucie, Raux Grégory, Dumanchin Cécile, Lefebvre Guillaume, Deslandre Emmanuelle, Girard Carole, Campion Dominique, Parain Dominique, Frebourg Thierry, Hannequin Didier
Département de Neurologie, CHU de Rouen and INSERM EMI 9906, IFRMP, Faculté de Médecine et de Pharmacie, France.
Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):114-7. doi: 10.1002/ajmg.b.10062.
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions, associated with psychiatric manifestations. MDS is usually considered as a benign disease. In most of the families, MDS is linked to chromosome 7q21 and mutations within epsilon-sarcoglycan (SGCE) gene have been recently described. We report a MDS family with a severe and heterogeneous phenotype, including myoclonus with important functional impact and several psychiatric features, characterized by obsessive-compulsive disorder, depression, and anxiety. This phenotype was shown to be associated with a novel truncating mutation located within exon 4 of SGCE.
肌阵挛性肌张力障碍综合征（MDS）是一种常染色体显性疾病，其特征为肌阵挛和肌张力障碍性肌肉收缩，并伴有精神症状。MDS通常被认为是一种良性疾病。在大多数家族中，MDS与7号染色体q21区域相关，并且最近已发现ε-肌聚糖（SGCE）基因内存在突变。我们报告了一个具有严重且异质性表型的MDS家族，包括具有重要功能影响的肌阵挛以及几种精神特征，以强迫症、抑郁症和焦虑症为特征。该表型被证明与位于SGCE基因第4外显子内的一种新的截短突变相关。
