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

Link to Article in PubMed

PubMed ID

10976645

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