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

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

doi:10.1016/j.parkreldis.2009.10.008

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

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

Research output: Contribution to journal › Article › Academic › peer-review

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. (C) 2009 Elsevier Ltd. All rights reserved

Original language	English
Pages (from-to)	288-289
Journal	Parkinsonism & related disorders
Volume	16
Issue number	4
DOIs	https://doi.org/10.1016/j.parkreldis.2009.10.008
Publication status	Published - 2010

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10.1016/j.parkreldis.2009.10.008

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

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. (C) 2009 Elsevier Ltd. All rights reserved",

author = "Foncke, \{Elisabeth M. J.\} and Beukers, \{Richard J.\} and Tijssen, \{Cees C.\} and Koelman, \{Johannes H. T. M.\} and Tijssen, \{Marina A. J.\}",

year = "2010",

doi = "10.1016/j.parkreldis.2009.10.008",

language = "English",

volume = "16",

pages = "288--289",

journal = "Parkinsonism \& related disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

number = "4",

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T1 - Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia

AU - Foncke, Elisabeth M. J.

AU - Beukers, Richard J.

AU - Tijssen, Cees C.

AU - Koelman, Johannes H. T. M.

AU - Tijssen, Marina A. J.

PY - 2010

Y1 - 2010

N2 - 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. (C) 2009 Elsevier Ltd. All rights reserved

AB - 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. (C) 2009 Elsevier Ltd. All rights reserved

U2 - 10.1016/j.parkreldis.2009.10.008

DO - 10.1016/j.parkreldis.2009.10.008

M3 - Article

C2 - 19913450

SN - 1353-8020

VL - 16

SP - 288

EP - 289

JO - Parkinsonism & related disorders

JF - Parkinsonism & related disorders

IS - 4

ER -

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

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