Title
Familial Alzheimer's disease: site of mutation influences clinical phenotype
UMMS Affiliation
Department of Neurology
Date
9-8-2000
Document Type
Article
Subjects
Adult; Age of Onset; Aged; Alzheimer Disease; Amyloid beta-Protein Precursor; Analysis of Variance; Humans; Membrane Proteins; Middle Aged; Mutation; Phenotype; Presenilin-1; Presenilin-2
Disciplines
Neurology | Neuroscience and Neurobiology
Abstract
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.
Rights and Permissions
Citation: Ann Neurol. 2000 Sep;48(3):376-9.
Related Resources
PubMed ID
10976645
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