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Titolo:
Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies
Autore:
Bennett, CL; Chance, PF;
Indirizzi:
Univ Washington, Sch Med, Dept Pediat, Div Genet & Dev, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 v Genet & Dev, Seattle, WA 98195 USA
Titolo Testata:
CURRENT OPINION IN NEUROLOGY
fascicolo: 5, volume: 14, anno: 2001,
pagine: 621 - 627
SICI:
1350-7540(200110)14:5<621:MPOHMS>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
MARIE-TOOTH-DISEASE; CYTOCHROME-C-OXIDASE; AMYOTROPHIC-LATERAL-SCLEROSIS; PERIPHERAL MYELIN PROTEIN-22; NEUROFILAMENT PHOSPHORYLATION; NERVE BIOPSIES; LEIGH-SYNDROME; ZERO GENE; MUTATIONS; TYPE-2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
57
Recensione:
Indirizzi per estratti:
Indirizzo: Chance, PF Univ Washington, Sch Med, Dept Pediat, Div Genet & Dev, Box 356320, Seattle, WA 98195 USA Univ Washington Box 356320 Seattle WA USA 98195 e, WA 98195 USA
Citazione:
C.L. Bennett e P.F. Chance, "Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies", CURR OP NEU, 14(5), 2001, pp. 621-627

Abstract

The hereditary motor, sensory and autonomic neuropathies are a heterogeneous group of neurological diseases. The classification of such is presently in a state of change. The original classification system was based on clinical findings whose limitations are being unfurled with increasing insights into the molecular basis of these disorders. In particular, much progress has been achieved in understanding the demyelinating forms of Charcot-Marie-Tooth (type 1), for which at least a dozen loci have been delineated and six genes identified. As anticipated, these genes play predominant roles in myelin biology. Four separate loci for the axonal Charcot-Marie-Tooth neuropathies (type 2) have been identified and only now are researchers beginningto tease out the responsible genes and the underlying molecular mechanisms. Similarly, progress is being made with the pure hereditary motor neuropathies. This review presents an updated list of genes responsible for inherited peripheral neuropathies and explores the underlying molecular mechanismsactively being investigated. Curr Opin Neurol 14:621-627. (C) 2001 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/04/20 alle ore 22:42:00