Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp
Identifieur interne : 001083 ( PascalFrancis/Corpus ); précédent : 001082; suivant : 001084Unusual 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. QuinnSource :
- Movement disorders [ 0885-3185 ] ; 2008.
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- Pascal (Inist)
English descriptors
- KwdEn :
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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Format Inist (serveur)
NO : | PASCAL 08-0522206 INIST |
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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 |
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Pascal:08-0522206Le document en format XML
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<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>
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<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>
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