Institutional members access full text with Ovid®

Share this article on:

Is Psychopathology Part of the Phenotypic Spectrum of Myoclonus-dystonia?: A Study of a Large Dutch M-D Family

Foncke, Elisabeth M. J. MD*; Cath, Danielle MD, PhD; Zwinderman, Koos PhD; Smit, Jan PhD; Schmand, Ben PhD*; Tijssen, Marina MD, PhD*

Cognitive and Behavioral Neurology: June 2009 - Volume 22 - Issue 2 - p 127-133
doi: 10.1097/WNN.0b013e3181a7228f
Original Studies

Background Myoclonus-dystonia (M-D) is a movement disorder frequently caused by mutations in the epsilon-sarcoglycan gene (SGCE, DYT11). In several M-D families, psychiatric symptoms accompanying the motor symptoms have been reported, but a shared genetic etiology remains unclear.

Objective To assess neuropsychologic functioning and psychopathology in DYT11 mutation carriers (MC) and their family members using standardized neuropsychologic and psychiatric measures.

Methods Cognitive and behavioural characteristics of 27 DYT11 MC (14 symptomatic and 13 asymptomatic) and 42 control subjects from 1 large Dutch M-D family were studied. Neuropsychologic tests encompassed memory, language, mental speed, concentration, visuospatial function, and executive functions. Psychiatric assessment addressed qualitative (according to Diagnostic and Statistical Manual-IV criteria) as well as quantitative measures of depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD), using selfadministered and interview-based scales.

Results No differences were observed on tests of cognitive functioning between DYT11 MC and controls. The frequency of Diagnostic and Statistical Manual-IV diagnoses was higher in the symptomatic DYT11 MC than in controls. The symptomatic DYT11 MC showed more depressive and anxiety symptoms, including panic attacks but no increase of OCD compared with controls. No differences were found between asymptomatic DYT11 MC and controls on any of the psychopathologic tests.

Conclusions Neither cognitive dysfunction nor OCD seems to be associated with the DYT11 phenotype in this large Dutch pedigree. Depressive and anxiety symptoms are increased in symptomatic, but not in asymptomatic DYT11 MC. Future research has to be carried out to determine whether the psychiatric symptoms are part of or secondary to the DYT11 phenotype.

Departments of *Neurology

Clinical Epidemiology, Academic Medical Centre, University of Amsterdam

Stichting GGZ Buitenamstel-de Geestgronden & Department of Psychiatry, Emgo institute; VU Medical Centre, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands

Reprints: Elisabeth M. J. Foncke, MD, Department of Neurology H2-222, Academic Medical Centre, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands (e-mail:

Received for publication August 28, 2008; accepted February 15, 2009

This study was supported by Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO) VIDI (project 016.056.333) (E.F. and M.T.).

The authors take responsibility for the integrity of the data and the accuracy of the data analysis.

Disclosure: The authors report no conflicts of interest.

© 2009 Lippincott Williams & Wilkins, Inc.