MovDisordV3, PascalFrancis, Corpus, bibRecord, 001083

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

Identifieur interne : 001083 ( PascalFrancis/Corpus ); précédent : 001082; suivant : 001084

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

Auteurs : Vasiliki Koukouni ; Enza Maria Valente ; Carla Cordivari ; Kailash P. Bhatia ; Niall P. Quinn

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 KOUKOUNI (Vasiliki)`
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.`
A14	`02`			`@1 IRCCS CSS-Mendel Institute @2 Rome @3 ITA @Z 2 aut.`
A14	`03`			`@1 Department of Medical and Surgical Pediatric Sciences, University of Messina @2 Messina @3 ITA @Z 2 aut.`
A14	`04`			`@1 Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery @2 London @3 GBR @Z 3 aut.`
A20				`@1 1913-1915`
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C01	`01`		`ENG`	@0 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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C03	`05`	`X`	`FRE`	`@0 Mutation @5 09`
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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`
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C07	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 43`
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Format Inist (serveur)

NO :	PASCAL 08-0522206 INIST
ET :	Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp
AU :	KOUKOUNI (Vasiliki); VALENTE (Enza Maria); CORDIVARI (Carla); BHATIA (Kailash P.); QUINN (Niall P.)
AF :	Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 4 aut., 5 aut.); IRCCS CSS-Mendel Institute/Rome/Italie (2 aut.); Department of Medical and Surgical Pediatric Sciences, University of Messina/Messina/Italie (2 aut.); Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery/London/Royaume-Uni (3 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 13; Pp. 1913-1915; Bibl. 12 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17G
FD :	Crampe écrivain; Myoclonie; Dystonie; Pathologie du système nerveux; Mutation
FG :	Pathologie du muscle strié; Mouvement involontaire; Trouble neurologique; Syndrome extrapyramidal; Pathologie de l'encéphale; Pathologie du système nerveux central
ED :	Writer cramp; Myoclonus; Dystonia; Nervous system diseases; Mutation
EG :	Striated muscle disease; Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Cerebral disorder; Central nervous system disease
SD :	Calambre escribano; Mioclonia; Distonía; Sistema nervioso patología; Mutación
LO :	INIST-20953.354000184468160170
ID :	08-0522206

Links to Exploration step

Pascal:08-0522206

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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<s5>41</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>42</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>42</s5>
</fC07>
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<s5>42</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>43</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>43</s5>
</fC07>
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<s5>43</s5>
</fC07>
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</fN21>
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</fN44>
<fN82><s1>OTO</s1>
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<server><NO>PASCAL 08-0522206 INIST</NO>
<ET>Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp</ET>
<AU>KOUKOUNI (Vasiliki); VALENTE (Enza Maria); CORDIVARI (Carla); BHATIA (Kailash P.); QUINN (Niall P.)</AU>
<AF>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London/London/Royaume-Uni (1 aut., 4 aut., 5 aut.); IRCCS CSS-Mendel Institute/Rome/Italie (2 aut.); Department of Medical and Surgical Pediatric Sciences, University of Messina/Messina/Italie (2 aut.); Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery/London/Royaume-Uni (3 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2008; Vol. 23; No. 13; Pp. 1913-1915; Bibl. 12 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17G</CC>
<FD>Crampe écrivain; Myoclonie; Dystonie; Pathologie du système nerveux; Mutation</FD>
<FG>Pathologie du muscle strié; Mouvement involontaire; Trouble neurologique; Syndrome extrapyramidal; Pathologie de l'encéphale; Pathologie du   système nerveux central</FG>
<ED>Writer cramp; Myoclonus; Dystonia; Nervous system diseases; Mutation</ED>
<EG>Striated muscle disease; Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Cerebral disorder; Central nervous system disease</EG>
<SD>Calambre escribano; Mioclonia; Distonía; Sistema nervioso patología; Mutación</SD>
<LO>INIST-20953.354000184468160170</LO>
<ID>08-0522206</ID>
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</inist>
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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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