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Titolo:
MUTATIONAL AND BIOCHEMICAL-ANALYSIS OF DOPAMINE IN DYSTONIA - EVIDENCE FOR DECREASED DOPAMINE D-2 RECEPTOR INHIBITION
Autore:
TODD RD; PERLMUTTER JS;
Indirizzi:
WASHINGTON UNIV,SCH MED,MALLINCKRODT INST RADIOL,DEPT PSYCHIAT & GENET ST LOUIS MO 63110 WASHINGTON UNIV,SCH MED,MALLINCKRODT INST RADIOL,DEPT NEUROL ST LOUISMO 63110 WASHINGTON UNIV,SCH MED,MALLINCKRODT INST RADIOL,DEPT NEUROSURG ST LOUIS MO 63110
Titolo Testata:
Molecular neurobiology
fascicolo: 2, volume: 16, anno: 1998,
pagine: 135 - 147
SICI:
0893-7648(1998)16:2<135:MABODI>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
TYROSINE-HYDROXYLASE GENE; IDIOPATHIC FOCAL DYSTONIAS; CAROTID-ARTERY INFUSION; BASAL GANGLIA; 1-METHYL-4-PHENYL-1,2,3,6-TETRAHYDROPYRIDINE MPTP; PRIMATE MODEL; MUSCULORUM DEFORMANS; SELECTIVE CHANGES; ASHKENAZI JEWS; MICE LACKING;
Keywords:
DYSTONIA; DOPAMINE; PUTAMEN; TYROSINE HYDROXYLASE; GTP CYCLOHYDROXYLASE; DOPAMINE RECEPTORS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
67
Recensione:
Indirizzi per estratti:
Citazione:
R.D. Todd e J.S. Perlmutter, "MUTATIONAL AND BIOCHEMICAL-ANALYSIS OF DOPAMINE IN DYSTONIA - EVIDENCE FOR DECREASED DOPAMINE D-2 RECEPTOR INHIBITION", Molecular neurobiology, 16(2), 1998, pp. 135-147

Abstract

The dystonias are a group of serious movement disorders characterizedby involuntary muscle spasms of different parts of the body. We recently proposed that hypofunction of dopamine D-2 receptor-mediated inhibition of the indirect output pathway of the basal ganglia can result in dystonia. In this review, we discuss the results of a variety of genetic and biochemical studies in light of this hypothesis. Several forms of early-onset dystonia show distinct autosomal dominant, recessive,or X-linked genetic transmission patterns. Late onset forms of dystonia, though not showing clear Mendelian transmission patterns, also appear to be highly familial. Recently, several genetic-linkage locationshave been identified for early-onset dystonia and for two of these loci, mutations decreasing dopamine synthesis have been demonstrated. Biochemical studies of monkeys and man also demonstrate that several types of dystonia occur in a dopamine-deficiency state. Similarly, mice strains developed to be deficient in several dopamine-pathway components have motor abnormalities consistent with dystonia. Hypofunction of the dopamine D-2 receptor-mediated inhibition of the indirect output pathway of the putamen may be a common feature of many of these heritable and secondary dystonic syndromes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 04:35:03