Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

E. M.J. Foncke; M. C.F. Gerrits; F. Van Ruissen; F. Baas; K. Hedrich; C. C. Tijssen; C. Klein; M. A.J. Tijssen

doi:10.1212/01.wnl.0000242880.49051.1f

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

E. M.J. Foncke, M. C.F. Gerrits, F. Van Ruissen, F. Baas, K. Hedrich, C. C. Tijssen, C. Klein, M. A.J. Tijssen^*

^*Corresponding author for this work

Institute of Neurogenetics

37 Citations (Scopus)

Abstract

We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.

Original language	English
Journal	Neurology
Volume	67
Issue number	9
Pages (from-to)	1677-1680
Number of pages	4
ISSN	0028-3878
DOIs	https://doi.org/10.1212/01.wnl.0000242880.49051.1f
Publication status	Published - 01.11.2006

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@article{e65d6ac5a9d846708da4d41c8f3b9bf1,

title = "Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia",

abstract = "We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.",

author = "Foncke, \{E. M.J.\} and Gerrits, \{M. C.F.\} and \{Van Ruissen\}, F. and F. Baas and K. Hedrich and Tijssen, \{C. C.\} and C. Klein and Tijssen, \{M. A.J.\}",

year = "2006",

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doi = "10.1212/01.wnl.0000242880.49051.1f",

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TY - JOUR

T1 - Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

AU - Foncke, E. M.J.

AU - Gerrits, M. C.F.

AU - Van Ruissen, F.

AU - Baas, F.

AU - Hedrich, K.

AU - Tijssen, C. C.

AU - Klein, C.

AU - Tijssen, M. A.J.

PY - 2006/11/1

Y1 - 2006/11/1

N2 - We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.

AB - We report a large myoclonus-dystonia (M-D) pedigree with a two-base pair deletion in Exon 5 of the epsilon-sarcoglycan gene. Three individuals had onset after age 40 years. Distal myoclonus of the arms was present in all 20 symptomatic mutation carriers. These findings expand the known phenotype of M-D and require revision of the current diagnostic criteria. Five of 14 asymptomatic mutation carriers who inherited the mutation from their mother showed minimal axial dystonia, arguing against a maternal imprinting mechanism.

UR - https://www.scopus.com/pages/publications/33750993070

U2 - 10.1212/01.wnl.0000242880.49051.1f

DO - 10.1212/01.wnl.0000242880.49051.1f

M3 - Journal articles

C2 - 17101905

AN - SCOPUS:33750993070

SN - 0028-3878

VL - 67

SP - 1677

EP - 1680

JO - Neurology

JF - Neurology

IS - 9

ER -

Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia

Abstract

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