A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability
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A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability Manuel Delgado-Alvarado 1,2,3 & Antoni Matilla-Dueñas 4 & Antonio Altadill-Bermejo 5 & Sonia Setién 1 & Mercedes Misiego-Peral 1 & José Ramón Sánchez-de la Torre 1 & Marc Corral-Juan 4 & Javier Riancho 1,6,7 Received: 2 July 2020 / Accepted: 12 September 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract 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. Keywords Myoclonus-dystonia . SGCE . Mutation . Phenotype
Abbreviations SGCE Epsilon-sarcoglycan SGCE-MD Myoclonus-dystonia associated with SGCE
604149) has recently replaced the locus symbol DYT11 [3]. SGCE mutations are inherited in an autosomal-dominant pattern with reduced penetrance of maternally transmitted mutations [4]. We report a novel SGCE variant causing myoclonusdystonia in a Spanish family.
Introduction Myoclonus-dystonia is a rare syndrome first described in the early 1980s [1]. It was reported to be caused by pathogenic heterozygous variants in the epsilon-sarcoglycan (SGCE) gene in 2001 [2], which remains the main causative gene for this condition. Hence, the designation DYT-SGCE (ONIM
Patients and methods Case 1 A 58-year-old man (Fig. 1; III.5) presented to the emergency room of our institution because of persistent diarrhea. In addition, the patient referred a history of abnormal
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10072-020-04718-6) contains supplementary material, which is available to authorized users. * Manuel Delgado-Alvarado [email protected]
4
Functional and Translational Neurogenetics Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias-IGTP, Can Ruti Campus, Badalona, Barcelona, Spain
1
Service of Neurology, Hospital Sierrallana-IDIVAL, Torrelavega, Spain
5
Family Medicine Service, Hospital Sierrallana-IDIVAL, Torrelavega, Spain
2
Biomedical Research Networking Center for Mental Health (CIBERSAM), Madrid, Spain
6
Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto Carlos III, Madrid, Spain
3
Psychiatry Research Area, IDIVAL, University Hospital Marqués de Valdecilla, Santander,
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