Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

M. C. F. Gerrits; E. M. J. Foncke; R. de Haan; K. Hedrich; Y. L. C. van de Leemput; F. Baas; L. J. Ozelius; J. D. Speelman; C. Klein; M. A. J. Tijssen

doi:https://doi.org/10.1212/01.wnl.0000201192.66467.a3

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

M. C. F. Gerrits, E. M. J. Foncke, R. de Haan, K. Hedrich, Y. L. C. van de Leemput, F. Baas, L. J. Ozelius, J. D. Speelman, C. Klein, M. A. J. Tijssen

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

39 Citations (Scopus)

Abstract

The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers

Original language	English
Pages (from-to)	759-761
Journal	Neurology
Volume	66
Issue number	5
DOIs	https://doi.org/10.1212/01.wnl.0000201192.66467.a3
Publication status	Published - 2006

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https://doi.org/10.1212/01.wnl.0000201192.66467.a3

Cite this

@article{b8031519c893424b9f672d137ea33f33,

title = "Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia",

abstract = "The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers",

author = "Gerrits, {M. C. F.} and Foncke, {E. M. J.} and {de Haan}, R. and K. Hedrich and {van de Leemput}, {Y. L. C.} and F. Baas and Ozelius, {L. J.} and Speelman, {J. D.} and C. Klein and Tijssen, {M. A. J.}",

year = "2006",

doi = "https://doi.org/10.1212/01.wnl.0000201192.66467.a3",

language = "English",

volume = "66",

pages = "759--761",

journal = "Neurology",

issn = "0028-3878",

publisher = "American Academy of Neurology",

number = "5",

}

TY - JOUR

T1 - Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

AU - Gerrits, M. C. F.

AU - Foncke, E. M. J.

AU - de Haan, R.

AU - Hedrich, K.

AU - van de Leemput, Y. L. C.

AU - Baas, F.

AU - Ozelius, L. J.

AU - Speelman, J. D.

AU - Klein, C.

AU - Tijssen, M. A. J.

PY - 2006

Y1 - 2006

N2 - The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers

AB - The epsilon-sarcoglycan (SGCE) gene is an important cause of myoclonus-dystonia (M-D), although the majority of cases with an M-D phenotype test negative. Seven of 31 patients with the M-D phenotype carried a mutation in the SGCE gene. Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers

U2 - https://doi.org/10.1212/01.wnl.0000201192.66467.a3

DO - https://doi.org/10.1212/01.wnl.0000201192.66467.a3

M3 - Article

C2 - 16534121

SN - 0028-3878

VL - 66

SP - 759

EP - 761

JO - Neurology

JF - Neurology

IS - 5

ER -