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Research paper
Cognition and psychopathology in myoclonus-dystonia
  1. Mirjam J van Tricht1,
  2. Yasmine E M Dreissen1,
  3. Danielle Cath2,
  4. Joke M Dijk1,
  5. Maria Fiorella Contarino1,
  6. Sandra M van der Salm1,
  7. Elisabeth M J Foncke3,
  8. Justus L Groen1,
  9. Ben Schmand1,4,
  10. Marina A J Tijssen1,5
  1. 1Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
  2. 2Department of Clinical and Health Psychology, Altrecht Outpatient Anxiety Services, Utrecht University, Utrecht, The Netherlands
  3. 3Department of Neurology, VU University Medical Center, Amsterdam, The Netherlands
  4. 4Department of Psychology, University of Amsterdam, Amsterdam, The Netherlands
  5. 5Movement Disorders Department of Neurology, University Medical Centre Groningen (UMCG)
  1. Correspondence to Professor Dr Marina A J de Koning-Tijssen, Movement Disorders, Department of Neurology AB 51, University medical Centre Groningen (UMCG) PO Box 30.001, 9700 RB Groningen, The Netherlands;{at}


Objective (1) To study the neuropsychological and psychopathological profile in myoclonus-dystonia (M-D) patients with and without a mutation in the DYT11 gene. (2) To explore whether cognitive and psychiatric impairments are related to severity and duration of motor symptoms. Herewith, this study may help to clarify whether neuropsychological and psychiatric symptoms are associated with the DYT11 mutation or are secondary to the burden of motor impairments that originated in early childhood.

Methods Extensive batteries of neuropsychological tests and psychiatric questionnaires were administered to DYT11 gene mutation-carrying (MC) M-D patients (n=31), non-mutation-carrying (NMC) M-D patients (n=20) and a healthy control group (n=36).

Results MC M-D patients demonstrated mild impairments in executive functions. On the contrary, with the exception of one type of verbal fluency, no evident cognitive impairments were found in NMC M-D patients. Further, increased rates of anxiety disorders were found only in MC M-D patients, whereas increased rates of depressive symptoms were observed in both M-D groups. Correlation analyses yielded modest associations between severity of myoclonus and executive functions. No relationships were found between neuropsychological test performance and scores on the psychiatric assessments.

Conclusions The findings of this study suggest that anxiety disorders and executive dysfunctions may be part of the phenotype of M-D patients with a DYT11 mutation, whereas depressive symptoms and semantic fluency impairments may be secondary to suffering from a chronic movement disorder, regardless of DYT11 gene mutation.

  • Cognition
  • anxiety
  • depression
  • myoclonus
  • dystonia
  • botulinum toxin
  • movement disorders
  • tremor
  • stereotaxic surgery
  • Parkinson's disease
  • functional imaging
  • Tourette syndrome
  • genetics
  • symptom validity testing
  • cognitive neuropsychology
  • memory
  • dementia
  • neuropsychology
  • stiff man syndrome
  • neuropsychiatry
  • motor physiology

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  • MJvT, YEMD contributed equally to this work.

  • Funding This study was supported by a grant of The Netherlands Organization for Health Research and Development (NWO VIDI 016.056.333).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval The ethics approval was provided by the Medical Ethical Committee of the Academic Medical Centre, University of Amsterdam.

  • Provenance and peer review Not commissioned; externally peer reviewed.