Neuropediatric Unit, Department of Women's and Children's Health, Karolinska Institutet, Astrid Lindgren Children's Hospital, Stockholm, Sweden.
Acta Paediatr. 2012 Feb;101(2):e90-2. doi: 10.1111/j.1651-2227.2011.02502.x. Epub 2011 Nov 17.
Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified.
We report of a three-generation family with myoclonus dystonia displaying a varied phenotype and maternal imprinting. Additionally, this family displays some unusual clinical presentations including alcohol-induced dystonia in an adult man, which will be discussed.
A novel mutation c.386T>C [p.I129T] was found within exon 3 of the SGCE gene in all three affected family members. In addition, two additional mutations [c.305G>A and IVS3+15G>A], judged to be polymorphisms in the SGCE gene, were found in two affected and one healthy family member.
This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.
肌阵挛性肌张力障碍是一种常染色体显性遗传的肌张力障碍综合征，其特征是家族内症状存在变异性。肌阵挛通常是最具致残性的症状，许多患者报告饮酒后肌阵挛减少。在多个家族中，已发现 SGCE 基因突变。
我们报告了一个三代肌阵挛性肌张力障碍家系，其表现出多种表型和母系印迹。此外，该家系还表现出一些不常见的临床表现，包括成年男性的酒精诱导性肌张力障碍，我们将对此进行讨论。
在所有 3 名受影响的家族成员中，均在 SGCE 基因的exon 3 中发现了一个新的突变 c.386T>C [p.I129T]。此外，在 2 名受影响和 1 名健康的家族成员中，还发现了另外两个被认为是 SGCE 基因突变的多态性[c.305G>A 和 IVS3+15G>A]。
本报告提出了 SGCE 基因的一个新突变导致肌阵挛性肌张力障碍，并将肌阵挛性肌张力障碍的表型扩展到还包括酒精诱导性肌张力障碍。
