Familial Alzheimer's disease: site of mutation influences clinical phenotype
Department of Neurology
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
Neurology | Neuroscience and Neurobiology
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.
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Citation: Ann Neurol. 2000 Sep;48(3):376-9.
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. Paper 313.
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