Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia

Foncke, Elisabeth M.J.; Beukers, Richard J.; Tijssen, Cees C.; Koelman, Johannes H.T.M.; Tijssen, Marina A.J.

doi:10.1016/j.parkreldis.2009.10.008

« Previous Next »Parkinsonism & Related Disorders
Volume 16, Issue 4 , Pages 288-289, May 2010

Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia☆☆☆

Elisabeth M.J. Foncke
- Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
Richard J. Beukers
- Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
Cees C. Tijssen
- Department of Neurology, St. Elisabeth Hospital, Tilburg, The Netherlands
Johannes H.T.M. Koelman
- Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
Marina A.J. Tijssen
- Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, The Netherlands
- Correspondence to: Marina A.J. Tijssen, Department of Neurology H2-222, Academic Medical Centre, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands. Tel.: +31 (0) 20 5663842.

Received 3 June 2009; received in revised form 21 October 2009; accepted 23 October 2009.

Abstract

We describe three genetically confirmed myoclonus dystonia (M-D) patients and one spinocerebellar ataxia type 14 (SCA14) patient, presenting with a combination of trunk tremor, multifocal myoclonus and axial dystonia as predominant clinical features. We suggest that in patients with this M-D phenotype, without a mutation in the DYT11 gene, SCA14 should be considered.

Keywords: Myoclonus, Dystonia, SCA14, Trunk, Tremor