Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Psychiatric disorders, myoclonus dystonia and SGCE: an international study

Peall, Kathryn J. ORCID:, Dijk, Joke M., Saunders-Pullman, Rachel, Dreissen, Yasmine E. M., van Loon, Ilke, Cath, Danielle, Kurian, Manju A., Owen, Michael John ORCID:, Foncke, Elisabeth M. J., Morris, Huw R., Gasser, Thomas, Bressman, Susan, Asmus, Friedrich and Tijssen, Marina A. J. 2016. Psychiatric disorders, myoclonus dystonia and SGCE: an international study. Annals of Clinical and Translational Neurology 3 (1) , pp. 4-11. 10.1002/acn3.263

[thumbnail of acn3.263.pdf] PDF - Published Version
Available under License Creative Commons Attribution.

Download (142kB)


OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon-sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of psychiatric disorders amongst SGCE mutation-positive populations. We analyzed the psychiatric data from four international centers, forming the largest cohort to date, to further determine the extent and type of psychiatric disorders in M-D. METHODS: Psychiatric data from SGCE mutation-positive M-D cohorts, collected by movement disorder specialists in the Netherlands, United Kingdom, United States, and Germany, were analyzed. These data were collected using standardized, systematic questionnaires allowing classification of symptoms according to Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV) criteria. Based on motor findings and SGCE mutation analysis, participants were classified into one of three groups: manifesting carriers, nonmanifesting carriers and noncarriers. RESULTS: Data from 307 participants were evaluated (140 males, 167 females, mean age at examination: 42.5 years). Two-thirds of motor affected mutation carriers (n = 132) had ≥1 psychiatric diagnosis, specific, and social phobias being most common followed by alcohol dependence and obsessive-compulsive disorder (OCD). Compared to familial controls, affected mutation carriers had significantly elevated overall rates of psychiatric disorders (P < 0.001). The most significant differences were observed with alcohol dependence (P < 0.001), OCD (P < 0.001), social and specific phobias (P < 0.001). INTERPRETATION: M-D due to SGCE mutations is associated with specific psychiatric disorders, most commonly OCD, anxiety-related disorders, and alcohol dependence. These suggest either a potential pleiotropic function for SGCE within the central nervous system or a secondary effect of the motor disorder.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Neuroscience and Mental Health Research Institute (NMHRI)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Additional Information: This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Publisher: Wiley
ISSN: 2328-9503
Date of First Compliant Deposit: 12 February 2021
Date of Acceptance: 25 September 2015
Last Modified: 17 May 2023 02:14

Citation Data

Cited 39 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item


Downloads per month over past year

View more statistics