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

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

Research output: Contribution to journalArticle

48 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)376-379
Number of pages4
JournalAnnals of Neurology
Issue number3
StatePublished - Sep 18 2000


ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Lippa, C. F., Swearer, J. M., Kane, K. J., Nochlin, D., Bird, T. D., Ghetti, B., Nee, L. E., St. George-Hyslop, P., Pollen, D. A., & Drachman, D. A. (2000). Familial Alzheimer's disease: Site of mutation influences clinical phenotype. Annals of Neurology, 48(3), 376-379. https://doi.org/10.1002/1531-8249(200009)48:3<376::AID-ANA13>3.0.CO;2-U