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Titolo:
Variable phenotype of Alzheimer's disease with spastic paraparesis
Autore:
Smith, MJ; Kwok, JBJ; McLean, CA; Kril, JJ; Broe, GA; Nicholson, GA; Cappai, R; Hallupp, M; Cotton, RGH; Masters, CL; Schofield, PR; Brooks, WS;
Indirizzi:
Garvan Inst Med Res, Sydney, NSW 2010, Australia Garvan Inst Med Res Sydney NSW Australia 2010 Sydney, NSW 2010, Australia Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia Univ Melbourne Melbourne Vic Australia Pathol, Melbourne, Vic, Australia Mental Hlth Res Inst, Parkville, Vic, Australia Mental Hlth Res Inst Parkville Vic Australia , Parkville, Vic, Australia St Vincents Hosp, Mutat Res Ctr, Fitzroy, Vic 3065, Australia St Vincents Hosp Fitzroy Vic Australia 3065 Fitzroy, Vic 3065, Australia Univ Sydney, Ctr Educ & Res Ageing, Concord, NSW, Australia Univ Sydney Concord NSW Australia & Res Ageing, Concord, NSW, Australia Concord Hosp, Mol Med Lab, Concord, NSW, Australia Concord Hosp Concord NSW Australia Mol Med Lab, Concord, NSW, Australia Prince Wales Hosp, Randwick, NSW 2031, Australia Prince Wales Hosp Randwick NSW Australia 2031 ndwick, NSW 2031, Australia
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 1, volume: 49, anno: 2001,
pagine: 125 - 129
SICI:
0364-5134(200101)49:1<125:VPOADW>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
PRESENILIN-1 MUTATIONS; DELETION; EXON-9;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Schofield, PR Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, Australia Garvan Inst Med Res 384 Victoria St Sydney NSW Australia 2010
Citazione:
M.J. Smith et al., "Variable phenotype of Alzheimer's disease with spastic paraparesis", ANN NEUROL, 49(1), 2001, pp. 125-129

Abstract

A variant form of Alzheimer's disease (AD), in which spastic paraparesis (SP) precedes dementia, is characterised by large, noncored, weakly neuriticAP-amyloid plaques resembling cotton wool balls and is caused by genomic deletion of presenilin 1 exon 9. A pedigree with a 5.9 Mb exon 9 deletion shows a phenotypic spectrum including subjects with typical AD or with SP andnumerous cotton wool plaques. In SP subjects, dementia onset is delayed and modified. This phenotypic variation suggests that modifying factors are associated with exon 9 deletions.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 13:24:32