A novelSGCEvariant is associated with myoclonus-dystonia with phenotypic variability

被引：3

作者：

Delgado-Alvarado, Manuel ^{[1
,2
,3
]}

Matilla-Duenas, Antoni ^{[4
]}

Altadill-Bermejo, Antonio ^{[5
]}

Setien, Sonia ^{[1
]}

Misiego-Peral, Mercedes ^{[1
]}

Sanchez-de la Torre, Jose Ramon ^{[1
]}

Corral-Juan, Marc ^{[4
]}

Riancho, Javier ^{[6
,7
]}

机构：

[1] Hosp Sierrallana IDIVAL, Serv Neurol, Torrelavega, Spain

[2] Biomed Res Networking Ctr Mental Hlth CIBERSAM, Madrid, Spain

[3] Univ Hosp Marques Valdecilla, Psychiat Res Area, IDIVAL, Santander, Spain

[4] Hlth Sci Res Inst Germans TriasI GTP, Dept Neurosci, Funct & Translat Neurogenet Unit, Can Ruti Campus, Barcelona, Spain

[5] Hosp Sierrallana IDIVAL, Family Med Serv, Torrelavega, Spain

[6] Inst Carlos III, Ctr Invest Red Enfermedades Neurodegenerat, CIBERNED, Madrid, Spain

[7] Univ Cantabria, Dept Med & Psychiat, Santander, Spain

来源：

NEUROLOGICAL SCIENCES | 2020年 / 41卷 / 12期

关键词：

Myoclonus-dystonia; SGCE; Mutation; Phenotype; MUTATIONS;

D O I：

10.1007/s10072-020-04718-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE)is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in theSGCEgene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 ofSGCE, c.904A>T (p.Lys302Ter) [Chr7:(GRCh38):g.94600779 T>A], which was absent in a non-affected member. A video recording of two of the affected members is provided. While the index case presents a severe cervical dystonia even affecting back posture, his sibling shows a much milder phenotype with mild myoclonic jerks. None of them had alcohol responsiveness or psychiatric comorbidity.

引用

页码：3779 / 3781

页数：3

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