MovDisordV3, Main, Merge, bibRecord, 003637

Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp

Identifieur interne : 003637 ( Main/Merge ); précédent : 003636; suivant : 003638

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.

RBID : Pascal:08-0522206

Descripteurs français

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

English descriptors

KwdEn :
- Dystonia, Mutation, Myoclonus, Nervous system diseases, Writer cramp.

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.

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Pascal:08-0522206

Le document en format XML

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<author><name sortKey="Koukouni, Vasiliki" sort="Koukouni, Vasiliki" uniqKey="Koukouni V" first="Vasiliki" last="Koukouni">Vasiliki Koukouni</name>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Medical and Surgical Pediatric Sciences, University of Messina</s1>
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<author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp</title>
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<author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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	Movement Disorders (revue)
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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...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri