Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report

Qing Wu; Yangyang Jiang; Jianjun Lu; Yong Zhang

doi:10.1016/j.parkreldis.2022.10.004

Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report

Parkinsonism Relat Disord. 2022 Nov:104:91-93. doi: 10.1016/j.parkreldis.2022.10.004. Epub 2022 Oct 13.

Authors

Qing Wu¹, Yangyang Jiang², Jianjun Lu³, Yong Zhang⁴

Affiliations

¹ Department of Neurosurgery, Guangdong Second Provincial General Hospital, Guangzhou, China. Electronic address: wqwy2020@163.com.
² Department of Neurosurgery, Guangdong Second Provincial General Hospital, Guangzhou, China. Electronic address: jyy009009@126.com.
³ Department of Neurosurgery, Guangdong Second Provincial General Hospital, Guangzhou, China. Electronic address: drlujianjun1978@163.com.
⁴ Department of Neurosurgery, Guangdong Second Provincial General Hospital, Guangzhou, China. Electronic address: zhangyongsey@163.com.

PMID: 36274329
DOI: 10.1016/j.parkreldis.2022.10.004

Abstract

Myoclonus-dystonia caused by mutations in the SGCE gene is clinically characterized by early onset, myoclonus, and dystonia. Here we describe a family in which several members exhibit varying degrees of myoclonus and dystonia, caused by a novel heterozygous mutation in the SGCE gene.

Keywords: Archimedes spirals; DNAJC6; Myoclonus-dystonia; SGCE.

Publication types

Case Reports
Letter

MeSH terms

Dystonia* / genetics
Dystonic Disorders* / genetics
Humans
Mutation / genetics
Myoclonus* / genetics
Sarcoglycans / genetics

Substances

Sarcoglycans
SGCE protein, human

Supplementary concepts

Myoclonic dystonia