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Titolo:
A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders
Autore:
Nicholl, DJ; Bennett, P; Hiller, L; Bonifati, V; Vanacore, N; Fabbrini, G; Marconi, R; Colosimo, C; Lamberti, P; Stocchi, F; Bonuccelli, U; Vieregge, P; Ramsden, DB; Meco, G; Williams, AC;
Indirizzi:
Queen Elizabeth Hosp, Dept Clin Neurol, Birmingham B15 2TH, W Midlands, England Queen Elizabeth Hosp Birmingham W Midlands England B15 2TH lands, England Queen Elizabeth Hosp, Clin Trials Unit, Birmingham B15 2TH, W Midlands, England Queen Elizabeth Hosp Birmingham W Midlands England B15 2TH lands, England Univ Birmingham, Birmingham, W Midlands, England Univ Birmingham Birmingham W Midlands England ngham, W Midlands, England Univ Rome La Sapienza, Dept Neurosci, Rome, Italy Univ Rome La Sapienza Rome Italy a Sapienza, Dept Neurosci, Rome, Italy Univ Bari, Neurol Inst, Bari, Italy Univ Bari Bari ItalyUniv Bari, Neurol Inst, Bari, Italy Misericordia Hosp, Neurol Sect, Grosseto, Italy Misericordia Hosp Grosseto Italy dia Hosp, Neurol Sect, Grosseto, Italy Univ Pisa, Dept Neurosci, Neurol Sect, Pisa, Italy Univ Pisa Pisa ItalyUniv Pisa, Dept Neurosci, Neurol Sect, Pisa, Italy Univ Lubeck, Dept Neurol, D-2400 Lubeck, Germany Univ Lubeck Lubeck Germany D-2400 k, Dept Neurol, D-2400 Lubeck, Germany
Titolo Testata:
NEUROLOGY
fascicolo: 7, volume: 53, anno: 1999,
pagine: 1415 - 1421
SICI:
0028-3878(19991022)53:7<1415:ASOFCG>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE SUPRANUCLEAR PALSY; DOPAMINE-TRANSPORTER GENE; SUSCEPTIBILITY LOCUS; ALZHEIMERS-DISEASE; CLINICAL-DIAGNOSIS; CYP2D6 GENE; EARLY-ONSET; POLYMORPHISM; ASSOCIATION; METAANALYSIS;
Keywords:
PD; debrisoquine hydroxylase; N-acetyltransferase; glutathione s-transferase; dopamine transporter; cytochrome P450;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
46
Recensione:
Indirizzi per estratti:
Indirizzo: Nicholl, DJ Queen Elizabeth Hosp, Dept Neurol, Birmingham B15 2TH, W Midlands, England Queen Elizabeth Hosp Birmingham W Midlands England B15 2TH nd
Citazione:
D.J. Nicholl et al., "A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders", NEUROLOGY, 53(7), 1999, pp. 1415-1421

Abstract

Objective: To determine whether reported genetic association of polymorphisms in the CYP2D6, CYP1A1, N-acetyltransferase 2 (NAT2), DAT1, and glutathione s-transferase M1 (GSTM1) genes with PD were evident in a population of 176 unrelated patients with sporadic PD and to extend these findings to other disease groups (familial PD [n = 30], ALS [n = 50], multiple system atrophy [n = 38], progressive supranuclear palsy [n = 35], and AD [n = 23]). Methods: A combination of allele-specific PCR and analysis of restriction fragment length polymorphisms were performed. Results: We genotyped 1,131 individuals. After matching each patient with a control subject by age, sex, ethnicity, and geographic origin, there was no association of any allele/genotype with any of the six disease groups. There was an increased frequency of NAT2 slow acetylators in the ALS group compared with controls (70% versus50%; OR 2.33 [95% CI, 1.03 to 5.30]), but this was not significant after adjusting for multiple testing. Conclusions: This is one of the most extensive candidate gene studies performed in PD and the first time that some of these loci have been studied in multiple system atrophy and progressive supranuclear palsy. In contrast with previous studies, we found no role for these polymorphisms in the etiology of PD, ALS, multiple system atrophy, progressive supranuclear palsy, or AD.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 16:23:28