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Titolo:
Mutations of the Notch3 gene in non-caucasian patients with suspected CADASIL syndrome
Autore:
Kotorii, S; Takahashi, K; Kamimura, K; Nishio, T; Arima, K; Yamada, H; Uyama, E; Uchino, M; Suenaga, A; Matsumoto, M; Kuchel, G; Rouleau, GA; Tabira, T;
Indirizzi:
NCNP, Natl Inst Neurosci, Dept Demyelinating Dis & Aging, Tokyo 1878551, Japan NCNP Tokyo Japan 1878551 Demyelinating Dis & Aging, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat, Musashi Hosp, Dept Lab Med, Tokyo, Japan Natl Ctr Neurol & Psychiat Tokyo Japan Hosp, Dept Lab Med, Tokyo, Japan Natl Ctr Neurol & Psychiat, Musashi Hosp, Dept Neurol, Tokyo, Japan Natl Ctr Neurol & Psychiat Tokyo Japan Hosp, Dept Neurol, Tokyo, Japan Tokyo Inst Psychiat, Dept Ultrastruct & Histochem, Tokyo, Japan Tokyo InstPsychiat Tokyo Japan t Ultrastruct & Histochem, Tokyo, Japan Kawasaki Med Sch, Dept Neurol, Kurashiki, Okayama, Japan Kawasaki Med SchKurashiki Okayama Japan urol, Kurashiki, Okayama, Japan Kumamoto Univ Med, Dept Neurol, Kumamoto, Japan Kumamoto Univ Med Kumamoto Japan Univ Med, Dept Neurol, Kumamoto, Japan Yahata Hosp, Dept Neurol, Kitakyushu, Fukuoka, Japan Yahata Hosp Kitakyushu Fukuoka Japan Neurol, Kitakyushu, Fukuoka, Japan Osaka Univ, Sch Med, Dept Med 1, Suita, Osaka 565, Japan Osaka Univ SuitaOsaka Japan 565 Med, Dept Med 1, Suita, Osaka 565, Japan McGill Univ, Montreal Gen Hosp, Res Inst, Dept Neurol, Montreal, PQ H3G 1A4, Canada McGill Univ Montreal PQ Canada H3G 1A4 urol, Montreal, PQ H3G 1A4, Canada
Titolo Testata:
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
fascicolo: 3, volume: 12, anno: 2001,
pagine: 185 - 193
SICI:
1420-8008(200105/06)12:3<185:MOTNGI>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUTOSOMAL-DOMINANT ARTERIOPATHY; SUBCORTICAL INFARCTS; LEUKOENCEPHALOPATHY CADASIL; FAMILY; DEMENTIA; MIGRAINE; STROKE; PHENOTYPE; SPECTRUM; BIOPSY;
Keywords:
CADASIL; Notch3; leukoencephalopathy; stroke; vascular dementia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
32
Recensione:
Indirizzi per estratti:
Indirizzo: Takahashi, K NCNP, Natl Inst Neurosci, Dept Demyelinating Dis & Aging, 4-1-1 Ogawahigashi, Tokyo 1878551, Japan NCNP 4-1-1 Ogawahigashi Tokyo Japan 1878551 o 1878551, Japan
Citazione:
S. Kotorii et al., "Mutations of the Notch3 gene in non-caucasian patients with suspected CADASIL syndrome", DEMENT G C, 12(3), 2001, pp. 185-193

Abstract

The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). To investigate the genetic contribution of Notch mutations in familial cases with vascular leukoencephalopathy, we screened 13 patients from 11 unrelated families, which were selected on the basis of magnetic resonance imaging findings and positive family history. We identifiedthree different missense mutations in 5 patients from 4 families. Two (Arg90Cys and Arg133Cys) are the same as previously reported in Caucasian patients, the other (Cys174Phe) is a novel mutation causing a loss of a cysteinein epidermal-growth-factor-like repeats of Notch3. These data indicate that the CADASIL Notch3 mutations were found in approximately 35% of familial cases with leukoencephalopathy, suggesting genetic heterogeneity of the disease. 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 09/04/20 alle ore 12:59:56