Title
Familial Alzheimer's disease: site of mutation influences clinical phenotype
UMMS Affiliation
Department of Neurology
Publication Date
2000-09-08
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.
Source
Ann Neurol. 2000 Sep;48(3):376-9.
Journal/Book/Conference Title
Annals of neurology
Related Resources
PubMed ID
10976645
Repository Citation
Lippa, Carol F.; Swearer, Joan M.; Kane, Kevin J.; Nochlin, David; Bird, Thomas D.; Ghetti, Bernardino; Nee, Linda; St. George-Hyslop, Peter H.; Pollen, Daniel A.; and Drachman, David A., "Familial Alzheimer's disease: site of mutation influences clinical phenotype" (2000). Neurology Publications and Presentations. 313.
https://escholarship.umassmed.edu/neuro_pp/313