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Titolo:
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
Autore:
Zimprich, A; Grabowski, M; Asmus, F; Naumann, M; Berg, D; Bertram, M; Scheidtmann, K; Kern, P; Winkelmann, F; Muller-Myhsok, B; Riedel, L; Bauer, M; Muller, T; Castro, M; Meitinger, T; Strom, TM; Gasser, T;
Indirizzi:
Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, Germany Univ Munich Munich Germany um Grosshadern, Dept Neurol, Munich, Germany GSF, Natl Res Ctr, Inst Human Genet, Munich, Germany GSF Munich GermanyGSF, Natl Res Ctr, Inst Human Genet, Munich, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-8000 Munich, Germany Tech Univ Munich Munich Germany D-8000 man Genet, D-8000 Munich, Germany Univ Wurzburg, Dept Neurol, D-8700 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-8700 t Neurol, D-8700 Wurzburg, Germany Univ Heidelberg, Dept Neurol, D-6900 Heidelberg, Germany Univ Heidelberg Heidelberg Germany D-6900 ol, D-6900 Heidelberg, Germany Neurol Hosp, Bad Aibling, Germany Neurol Hosp Bad Aibling GermanyNeurol Hosp, Bad Aibling, Germany Klinikum Buch, Dept Neurol, Berlin, Germany Klinikum Buch Berlin Germany linikum Buch, Dept Neurol, Berlin, Germany Inst Psychiat, Dept Neurol, Munich, Germany Inst Psychiat Munich Germany nst Psychiat, Dept Neurol, Munich, Germany Bernhard Nocht Inst Trop Med, Hamburg, Germany Bernhard Nocht Inst Trop Med Hamburg Germany Trop Med, Hamburg, Germany LionBiosci AG, Heidelberg, Germany LionBiosci AG Heidelberg GermanyLionBiosci AG, Heidelberg, Germany
Titolo Testata:
NATURE GENETICS
fascicolo: 1, volume: 29, anno: 2001,
pagine: 66 - 69
SICI:
1061-4036(200109)29:1<66:MITGEE>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
GIRDLE MUSCULAR-DYSTROPHY; HEREDITARY ESSENTIAL MYOCLONUS; ONSET TORSION DYSTONIA; D2 DOPAMINE-RECEPTOR; ALPHA-SARCOGLYCAN; COMPLEX; FAMILY; 2D;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Gasser, T Univ Munich, Klinikum Grosshadern, Dept Neurol, Munich, Germany Univ Munich Munich Germany dern, Dept Neurol, Munich, Germany
Citazione:
A. Zimprich et al., "Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome", NAT GENET, 29(1), 2001, pp. 66-69

Abstract

The dystonias are a common clinically and genetically heterogeneous group of movement disorders. More than ten loci for inherited forms of dystonia have been mapped, but only three mutated genes have been identified so far. These are DYT1, encoding torsin A(1) and mutant in the early-onset generalized form, GCH1 (formerly known as DYT5), encoding GTP-cyclohydrolase I and mutant in dominant dopa-responsive dystonia(2), and TH, encoding tyrosine hydroxylase and mutant in the recessive form of the disease(3). Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the armsand axial muscles(4,5). Dystonia, usually torticollis and/or writer's cramp, occurs in most but not all affected patients and may occasionally be theonly symptom of the disease(6,7). In addition, patients often show prominent psychiatric abnormalities, including panic attacks and obsessive-compulsive behavior(8-10). In most MDS families, the disease is linked to a locus on chromosome 7q21 (refs. 11-13). Using a positional cloning approach, we have identified five different heterozygous loss-of-function mutations in the gene for epsilon -sarcoglycan (SGCE), which we mapped to a refined critical region of about 3.2 Mb. SGCE is expressed in all brain regions examined. Pedigree analysis shows a marked difference in penetrance depending on theparental origin of the disease allele, This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon -sarcoglycan gene(14).

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Documento generato il 25/01/20 alle ore 06:44:56