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Titolo:
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies
Autore:
Houlden, H; Crook, R; Dolan, RJ; McLaughlin, J; Revesz, T; Hardy, J;
Indirizzi:
Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA Mayo Clin Jacksonville FL USA 32224 Neurosci, Jacksonville, FL 32224 USA Univ Coll London, Inst Neurol, Dept Clin Neurol, London WC1N 3BG, England Univ Coll London London England WC1N 3BG eurol, London WC1N 3BG, England Univ Coll London, Inst Neurol, Dept Cognit Neurol, London WC1N 3BG, England Univ Coll London London England WC1N 3BG eurol, London WC1N 3BG, England Royal Free Hosp, Dept Pathol, London NW3 2QG, England Royal Free Hosp London England NW3 2QG t Pathol, London NW3 2QG, England Univ Coll London, Neurol Inst, Dept Neuropathol, London WC1N 3BG, England Univ Coll London London England WC1N 3BG athol, London WC1N 3BG, England
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 1-2, volume: 313, anno: 2001,
pagine: 93 - 95
SICI:
0304-3940(20011102)313:1-2<93:ANPM(C>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
MISSENSE MUTATIONS; GENE;
Keywords:
Alzheimer's disease; genetics; presenilins; Lewy bodies;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Hardy, J Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA Mayo Clin Jacksonville FL USA 32224 , Jacksonville, FL 32224 USA
Citazione:
H. Houlden et al., "A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies", NEUROSCI L, 313(1-2), 2001, pp. 93-95

Abstract

Presenilin 1 mutations are the major cause of autosomal dominant Alzheimer's disease: here we identify a new missense mutation causing a methionine to valine change at codon 233. This codon is homologous to a pathogenic presenilin 2 mutation with the same base change (ATG to GTG) and amino acid change (M239V). This mutation causes disease with an exceptionally early onsetage (similar to 30 years) in which pathological examination shows extensive Lewy bodies as well as plaques and tangles. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/07/20 alle ore 21:29:00