A South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation

Parkinsonism Relat Disord. 2019 Nov:68:63-64. doi: 10.1016/j.parkreldis.2019.10.001. Epub 2019 Oct 7.

Authors

Riaan van Coller¹, Soraya Bardien², Annika Neethling², Jonathan Carr³, Clara Schutte⁴

Affiliations

¹ Department of Neurology, University of Pretoria, Pretoria, South Africa. Electronic address: rvcoller@gmail.com.
² Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
³ Division of Neurology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
⁴ Department of Neurology, University of Pretoria, Pretoria, South Africa.

PMID: 31621622
DOI: 10.1016/j.parkreldis.2019.10.001

No abstract available

Keywords: DYT-SGCE; Deep brain stimulation; Myoclonus-dystonia; SGCE-Gene mutation.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Deep Brain Stimulation*
Dystonic Disorders / genetics*
Dystonic Disorders / therapy*
Female
Humans
Pedigree
Sarcoglycans / genetics*
South Africa
Treatment Outcome

Substances

SGCE protein, human
Sarcoglycans

Supplementary concepts

Myoclonic dystonia