MovDisordV3, PascalFrancis, Curation, bibRecord, 001C36

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

Identifieur interne : 001C36 ( PascalFrancis/Curation ); précédent : 001C35; suivant : 001C37

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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A11	`02`	`1`		`@1 VALENTE (Enza Maria)`
A11	`03`	`1`		`@1 CORDIVARI (Carla)`
A11	`04`	`1`		`@1 BHATIA (Kailash P.)`
A11	`05`	`1`		`@1 QUINN (Niall P.)`
A14	`01`			`@1 Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London @2 London @3 GBR @Z 1 aut. @Z 4 aut. @Z 5 aut.`
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C03	`01`	`X`	`ENG`	`@0 Writer cramp @5 01`
C03	`01`	`X`	`SPA`	`@0 Calambre escribano @5 01`
C03	`02`	`X`	`FRE`	`@0 Myoclonie @5 02`
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C03	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 04`
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C03	`05`	`X`	`FRE`	`@0 Mutation @5 09`
C03	`05`	`X`	`ENG`	`@0 Mutation @5 09`
C03	`05`	`X`	`SPA`	`@0 Mutación @5 09`
C07	`01`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 37`
C07	`01`	`X`	`ENG`	`@0 Striated muscle disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Músculo estriado patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Mouvement involontaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Involuntary movement @5 38`
C07	`02`	`X`	`SPA`	`@0 Movimiento involuntario @5 38`
C07	`03`	`X`	`FRE`	`@0 Trouble neurologique @5 40`
C07	`03`	`X`	`ENG`	`@0 Neurological disorder @5 40`
C07	`03`	`X`	`SPA`	`@0 Trastorno neurológico @5 40`
C07	`04`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 41`
C07	`04`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 41`
C07	`04`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 41`
C07	`05`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 42`
C07	`05`	`X`	`ENG`	`@0 Cerebral disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Encéfalo patología @5 42`
C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
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N21				`@1 343`
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Le document en format XML

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

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