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Titolo:
STUDIES IN A LARGE FAMILY WITH LATE-ONSET ALZHEIMER-DISEASE (LOAD)
Autore:
MARTIN ES; MARTIN SE; EDELSOHN L; BORGAONKAR DS;
Indirizzi:
CHRISTIANA CARE HLTH SYST,DEPT PATHOL & LAB MED,CYTOGENET LAB,POB 6001 NEWARK DE 19718 CHRISTIANA CARE HLTH SYST,DEPT PATHOL & LAB MED,CYTOGENET LAB NEWARK DE 19718 CHRISTIANA CARE HLTH SYST,DEPT MED NEWARK DE 19718 CHRISTIANA CARE HLTH SYST,DEPT MED NEUROL NEWARK DE 19718
Titolo Testata:
Alzheimer disease and associated disorders
fascicolo: 3, volume: 11, anno: 1997,
pagine: 163 - 170
SICI:
0893-0341(1997)11:3<163:SIALFW>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
APOLIPOPROTEIN-E TYPE-4; GENE; LINKAGE; ALLELE; RISK; CHROMOSOME-19; LOCUS; ASSOCIATION; DIAGNOSIS; WOMEN;
Keywords:
ALZHEIMER DISEASE; APOLIPOPROTEIN E (APOE); AUTOSOMAL DOMINANT; FAMILIAL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
E.S. Martin et al., "STUDIES IN A LARGE FAMILY WITH LATE-ONSET ALZHEIMER-DISEASE (LOAD)", Alzheimer disease and associated disorders, 11(3), 1997, pp. 163-170

Abstract

A large IO-generation family with late-onset Alzheimer disease (LOAD)inherited as an autosomal dominant trait was evaluated historically, clinically, and genetically. The family origin was traced to a foundercouple of French ancestry with approximately 3,000 descendants. Although the transmission of a genetic predisposition to LOAD is demonstrated through male individuals, a predominance of affected women is observed. Currently, 14 individuals, 12 of whom are women, are classified as affected with Alzheimer disease (AD). Among the affected the age of onset ranged from 55 to 78 years. Genotyping of the apolipoprotein E (APOE) locus demonstrated that homozygotes for the E4 allele (APOE4) developed signs of AD in their late 60s, whereas affected heterozygotes presented with the disease in their,70s. A significantly higher APOE4 frequency was observed in affected family members than in those unaffected (0.79 vs. 0.25, chi(2) = 9.919, p = 0.0016, df = 1). Survival formore than 15 years after diagnosed onset was observed in a number of those affected and can be attributed to an improved environment, including excellent care and management during the disabling phase of illness. Alternatively, it may be an example of the genetic heterogeneity in AD. Complete documentation of large families such as the one presented will facilitate the discovery of the multiple genetic factors involved in the pathogenesis AD.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 08:56:25