A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability

被引：0
作者：
Manuel Delgado-Alvarado
Antoni Matilla-Dueñas
Antonio Altadill-Bermejo
Sonia Setién
Mercedes Misiego-Peral
José Ramón Sánchez-de la Torre
Marc Corral-Juan
Javier Riancho
机构：
[1] Hospital Sierrallana-IDIVAL,Service of Neurology
[2] Biomedical Research Networking Center for Mental Health (CIBERSAM),Psychiatry Research Area, IDIVAL
[3] University Hospital Marqués de Valdecilla,Functional and Translational Neurogenetics Unit, Department of Neurosciences
[4] Health Sciences Research Institute Germans Trias-IGTP,Family Medicine Service
[5] Hospital Sierrallana-IDIVAL,Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED
[6] Instituto Carlos III,Department of Medicine and Psychiatry
[7] University of Cantabria,undefined
来源：
Neurological Sciences | 2020年 / 41卷
关键词：
Myoclonus-dystonia; SGCE; Mutation; Phenotype;
D O I：
暂无
中图分类号：
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 the SGCE gene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 of SGCE, 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.
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页码：3779 / 3781
页数：2
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