MovDisordV3, Ncbi, Merge, bibRecord, 002249

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

Identifieur interne : 002249 ( Ncbi/Merge ); précédent : 002248; suivant : 002250

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

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

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.

RBID : pubmed:18702114

English descriptors

KwdEn :
- Adolescent, Adult, Arginine (genetics), DNA Mutational Analysis, Dystonic Disorders (genetics), Family Health, Female, Humans, Male, Mutation, Myoclonus (genetics), Sarcoglycans (genetics), Young Adult.
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.

DOI: 10.1002/mds.21935
PubMed: 18702114

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pubmed:18702114

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>
<affiliation wicri:level="3"><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
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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>
</author>
<author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name>
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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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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name>
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<term>Dystonic Disorders (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Myoclonus (genetics)</term>
<term>Sarcoglycans (genetics)</term>
<term>Young Adult</term>
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<term>Sarcoglycans</term>
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<term>Myoclonus</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
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<term>Humans</term>
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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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation>
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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 :

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

Pour générer des pages wiki