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

E.M.J. Foncke; R.J. Beukers; C.C. Tijssen; J.H. Koelman; M.A. Tijssen

doi:https://doi.org/10.1016/j.parkreldis.2009.10.008

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

E.M.J. Foncke, R.J. Beukers, C.C. Tijssen, J.H. Koelman, M.A. Tijssen

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

24 Citations (Scopus)

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 and 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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https://doi.org/10.1016/j.parkreldis.2009.10.008

Cite this

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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 = "E.M.J. Foncke and R.J. Beukers and C.C. Tijssen and J.H. Koelman and M.A. Tijssen",

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

AU - Foncke, E.M.J.

AU - Beukers, R.J.

AU - Tijssen, C.C.

AU - Koelman, J.H.

AU - Tijssen, M.A.

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 - https://doi.org/10.1016/j.parkreldis.2009.10.008

DO - https://doi.org/10.1016/j.parkreldis.2009.10.008

M3 - Article

C2 - 19913450

SN - 1353-8020

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JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

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