MovDisordV3, Main, Exploration, bibRecord, 002548

Unusual familial presentation of epsilon‐sarcoglycan gene mutation with falls and writer's cramp

Identifieur interne : 002548 ( Main/Exploration ); précédent : 002547; suivant : 002549

Unusual familial presentation of epsilon‐sarcoglycan gene mutation with falls and writer's cramp

Auteurs : Vasiliki Koukouni [Royaume-Uni] ; Enza Maria Valente [Italie] ; Carla Cordivari [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-10-15.

RBID : ISTEX:ABE6021E9E54FB4FF7FAA1579E6AA0EA3CCCD981

Descripteurs français

Pascal (Inist)
- Crampe écrivain, Dystonie, Mutation, Myoclonie, Pathologie du système nerveux.

English descriptors

KwdEn :
- Adolescent, Adult, Arginine (genetics), DNA Mutational Analysis, Dystonia, Dystonic Disorders (genetics), Family Health, Female, Humans, Male, Mutation, Myoclonus, Myoclonus (genetics), Nervous system diseases, Sarcoglycans (genetics), Writer cramp, Young Adult, epsilon‐sarcoglycan, falls, myoclonus dystonia, writer's cramp.
MESH :
- chemical , genetics : Arginine, Sarcoglycans.
- genetics : Dystonic Disorders, Myoclonus.
- Adolescent, Adult, DNA Mutational Analysis, Family Health, Female, Humans, Male, Mutation, Young Adult.

Abstract

Inherited myoclonus dystonia (M‐D, DYT11) is an autosomal dominant dystonia‐plus syndrome, which in many families is caused by mutations in the SGCE/ (epsilon‐sarcoglycan gene. We present a family with M‐D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult‐onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol‐sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed. © 2008 Movement Disorder Society.

Url:

https://api.istex.fr/document/ABE6021E9E54FB4FF7FAA1579E6AA0EA3CCCD981/fulltext/pdf

DOI: 10.1002/mds.21935

Affiliations:

Le document en format XML

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Movement Disorders (revue)

Unusual familial presentation of epsilon‐sarcoglycan gene mutation with falls and writer's cramp

Unusual familial presentation of epsilon‐sarcoglycan gene mutation with falls and writer's cramp

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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