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Titolo:
Genetic analysis in patients with familial and sporadic frontotemporal dementia: Two tau mutations in only familial cases and no association with apolipoprotein epsilon 4
Autore:
Kowalska, A; Asada, T; Arima, K; Kumakiri, C; Kozubski, W; Takahashi, K; Tabira, T;
Indirizzi:
Polish Acad Sci, Inst Human Genet, PL-60479 Poznan, Poland Polish Acad Sci Poznan Poland PL-60479 an Genet, PL-60479 Poznan, Poland NCNP, Dept Demyelinating Dis & Aging, Natl Inst Neurosci, Tokyo, Japan NCNP Tokyo Japan linating Dis & Aging, Natl Inst Neurosci, Tokyo, Japan Natl Ctr Hosp Mental Nervous & Muscular Disorders, Tokyo, Japan Natl Ctr Hosp Mental Nervous & Muscular Disorders Tokyo Japan yo, Japan Chiba Univ, Dept Psychiat, Fac Med, Chiba, Japan Chiba Univ Chiba JapanChiba Univ, Dept Psychiat, Fac Med, Chiba, Japan Med Acad Poznan, Dept Neurol, PL-60780 Poznan, Poland Med Acad Poznan Poznan Poland PL-60780 t Neurol, PL-60780 Poznan, Poland
Titolo Testata:
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
fascicolo: 6, volume: 12, anno: 2001,
pagine: 387 - 392
SICI:
1420-8008(200111/12)12:6<387:GAIPWF>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROTEIN-TAU; SUPRANUCLEAR PALSY; PRESENILE-DEMENTIA; P301L-TAU MUTATION; ALZHEIMERS-DISEASE; MISSENSE MUTATION; PARKINSONISM; FTDP-17; CHROMOSOME-17; DEGENERATION;
Keywords:
frontotemporal dementia; tau gene; mutation; apolipoprotein E;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Kowalska, A Polish Acad Sci, Inst Human Genet, 32 Strzeszynska, PL-60479 Poznan, Poland Polish Acad Sci 32 Strzeszynska Poznan Poland PL-60479 Poland
Citazione:
A. Kowalska et al., "Genetic analysis in patients with familial and sporadic frontotemporal dementia: Two tau mutations in only familial cases and no association with apolipoprotein epsilon 4", DEMENT G C, 12(6), 2001, pp. 387-392

Abstract

We screened for tau gene mutations among 24 Japanese (6 familial and 18 sporadic cases) and 4 Polish patients with frontotemporal dementia (FTD) using PCR-SSCP analysis followed by DNA sequencing. We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD. Additionally 3 DNA polymorphisms: 2 known (3 ' exon 3 + 9, A --> G and exon 7, codon 176, G --> A) and 1 new (exon 8, codon 185, T --> C) were identified in 1 Polish patient. Tau mutations were not found in subjects with anegative family history suggesting that tau mutations do not account for most sporadic cases of FTD. We also found no association of apolipoprotein E4 allele with FTD. Copyright (C) 2001 S, Karger AG, Basel.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:47:21