Familial Alzheimer's disease: site of mutation influences clinical phenotype

Autor:	C F, Lippa, J M, Swearer, K J, Kane, D, Nochlin, T D, Bird, B, Ghetti, L E, Nee, P, St George-Hyslop, D A, Pollen, D A, Drachman
Rok vydání:	2000
Předmět:	Adult Amyloid beta-Protein Precursor Analysis of Variance Phenotype Alzheimer Disease Mutation Presenilin-2 Presenilin-1 Humans Membrane Proteins Age of Onset Middle Aged Aged
Zdroj:	Annals of neurology. 48(3)
ISSN:	0364-5134
Popis:	Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyloid precursor protein, presenilin-1, and presenilin-2 genes). We found that among patients with dominantly inherited AD, genetic factors influence both age at onset and age at death.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::9249b0fab083aa1f1017b78e3d4ae74e https://pubmed.ncbi.nlm.nih.gov/10976645 Zobrazit plný text záznamu Plný text