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Titolo:
Genetics of Parkinson's disease
Autore:
Gasser, T;
Indirizzi:
Univ Munich, Klinikum Grosshadern, Dept Neurol, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 Dept Neurol, D-81377 Munich, Germany
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 10, volume: 248, anno: 2001,
pagine: 833 - 840
SICI:
0340-5354(200110)248:10<833:GOPD>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-SYNUCLEIN GENE; RECESSIVE JUVENILE PARKINSONISM; MONOAMINE-OXIDASE-B; CARBOXY-TERMINAL HYDROLASE; DOPAMINE-TRANSPORTER GENE; UBIQUITIN-PROTEIN LIGASE; AUTOSOMAL-DOMINANT; ALLELIC ASSOCIATION; ONSET PARKINSONISM; ESSENTIAL TREMOR;
Keywords:
Parkinson's disease; alpha-synuclein; parkin; ubiquitin; genetics;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
83
Recensione:
Indirizzi per estratti:
Indirizzo: Gasser, T Univ Munich, Klinikum Grosshadern, Dept Neurol, Marchioninistr 15, D-81377Munich, Germany Univ Munich Marchioninistr 15 Munich Germany D-81377 h, Germany
Citazione:
T. Gasser, "Genetics of Parkinson's disease", J NEUROL, 248(10), 2001, pp. 833-840

Abstract

Over the past few years, several genes for monogenically inherited forms of Parkinson's disease (PD) have been mapped and/or cloned. In a small number of families with autosomal dominant inheritance and typical Lewy-body pathology, mutations have been identified in the gene for alpha -synuclein. Aggregation of this protein in Lewy-bodies may be a crucial step in the molecular pathogenesis of familial and sporadic PD. On the other hand, mutationsin the parkin gene cause autosomal recessive parkinsonism of early onset. In this form of PD, nigral. degeneration is not accompanied by Lewy-body formation. Parkin-mutations appear to be a common cause of PD in patients with very early onset. Parkin has been implicated in the cellular protein degradation pathways, as it has been shown that it functions as a ubiquitin ligase. The potential importance of this pathway is also highlighted by the finding of a mutation in the gene for ubiquitin C-terminal hydrolase L1 in another small family with PD. Other loci have been mapped to chromosome 2p and 4p, respectively, in a small number of families with dominantly inheritedPD, but those genes have not yet been identified. These findings prove that there are several genetically distinct forms of PD that can be caused by mutations in single genes. On the other hand, there is at present no direct evidence that any of these genes have a direct role in the aetiology of the common sporadic form of PD. Epidemiological, case control, and twin studies, although supporting a genetic contribution to the development of PD, all suggest a clear familialclustering only in a minority of cases. It is therefore widely believed that a combination of interacting genetic and environmental causes maybe responsible in this majority of PD-cases. However, studies of gene-environment interactions have not yet produced any convincing results. Nevertheless, the elucidation of the molecular sequence of events leading to nigral degeneration in clearly inherited cases is likely to shed light also on the molecular pathogenesis of the common sporadic form of this disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/09/19 alle ore 22:59:06