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Titolo:
DIRECT GENETIC-EVIDENCE FOR INVOLVEMENT OF TAU IN PROGRESSIVE SUPRANUCLEAR PALSY
Autore:
BENNETT P; BONIFATI V; BONUCCELLI U; COLOSIMO C; DEMARI M; FABBRINI G; MARCONI R; MECO G; NICHOLL DJ; STOCCHI F; VANACORE N; VIEREGGE P; WILLIAMS AC;
Indirizzi:
UNIV BIRMINGHAM,QUEEN ELIZABETH PSYCHIAT HOSP,DEPT PSYCHIAT,MINDELSOHN WAY BIRMINGHAM B15 2QZ W MIDLANDS ENGLAND UNIV BIRMINGHAM,QUEEN ELIZABETH HOSP,DEPT CLIN NEUROL BIRMINGHAM B15 2TH W MIDLANDS ENGLAND UNIV ROMA LA SAPIENZA,DEPT NEUROSCI ROME ITALY UNIV PISA,INST NEUROL PISA ITALY UNIV BARI,INST NEUROL BARI ITALY MISERICORDIA HOSP,NEUROL SECT GROSSETO ITALY UNIV LUBECK,DEPT NEUROL D-2400 LUBECK GERMANY
Titolo Testata:
Neurology
fascicolo: 4, volume: 51, anno: 1998,
pagine: 982 - 985
SICI:
0028-3878(1998)51:4<982:DGFIOT>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
RICHARDSON-OLSZEWSKI-SYNDROME; GLIAL CYTOPLASMIC INCLUSIONS; PAIRED HELICAL FILAMENTS; MULTIPLE SYSTEM ATROPHY; PROTEIN-TAU; PHOSPHORYLATION; DIAGNOSIS; CRITERIA; REPEAT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
P. Bennett et al., "DIRECT GENETIC-EVIDENCE FOR INVOLVEMENT OF TAU IN PROGRESSIVE SUPRANUCLEAR PALSY", Neurology, 51(4), 1998, pp. 982-985

Abstract

Objective: To confirm whether a dinucleotide repeat sequence in an intron of the microtubule-associated protein tau is associated with progressive supranuclear palsy (PSP) in an independent study population and to establish an improved methodology for allelotyping. Background: It has recently been reported that a genetic variant of tau, known as the AO allele, was represented excessively in PSP patients when compared with control subjects. Methods: In a multicenter study, the authors examined the allelic distribution of this dinucleotide repeat marker in a set of clinically ascertained PSP patients (n = 30), multiple system atrophy (MSA) patients (n = 35), and matched control subjects (n = 70). Individuals were allelotyped using automated analysis of fluorescently labeled PCR products. Results: The AO allele was significantly overrepresented in the PSP patients (93.3% versus 76.4%; p = 0.0067; odds ratio [OR] = 4.33; 95% confidence interval [CI], 1.36 to 13.60), but not in the MSA patients. Likewise, AO homozygotes were overrepresented in the PSP group (86.7% versus 61.1%; p = 0.02; OR = 4.14; 95% CI, 1.19 to 14.48) compared with control subjects. Conclusions: The findings of this study, which is the largest to date, support those of a previous investigation that used pathologically confirmed PSP patients. These data provide additional strong evidence that genetic variation ator near the tau gene plays an important role in the pathogenesis of PSP.

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Documento generato il 30/11/20 alle ore 09:11:07