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

C. F. Lippa, J. M. Swearer, K. J. Kane, D. Nochlin, T. D. Bird, Bernardino Ghetti, L. E. Nee, P. St. George-Hyslop, D. A. Pollen, D. A. Drachman

Research output: Contribution to journalArticle

48 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)376-379
Number of pages4
JournalAnnals of Neurology
Volume48
Issue number3
DOIs
StatePublished - 2000

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Alzheimer Disease
Phenotype
Age of Onset
Mutation
Presenilin-2
Presenilin-1
Amyloid beta-Protein Precursor
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Familial Alzheimer's disease : Site of mutation influences clinical phenotype. / Lippa, C. F.; Swearer, J. M.; Kane, K. J.; Nochlin, D.; Bird, T. D.; Ghetti, Bernardino; Nee, L. E.; St. George-Hyslop, P.; Pollen, D. A.; Drachman, D. A.

In: Annals of Neurology, Vol. 48, No. 3, 2000, p. 376-379.

Research output: Contribution to journalArticle

Lippa, CF, Swearer, JM, Kane, KJ, Nochlin, D, Bird, TD, Ghetti, B, Nee, LE, St. George-Hyslop, P, Pollen, DA & Drachman, DA 2000, 'Familial Alzheimer's disease: Site of mutation influences clinical phenotype', Annals of Neurology, vol. 48, no. 3, pp. 376-379. https://doi.org/10.1002/1531-8249(200009)48:3<376::AID-ANA13>3.0.CO;2-U
Lippa, C. F. ; Swearer, J. M. ; Kane, K. J. ; Nochlin, D. ; Bird, T. D. ; Ghetti, Bernardino ; Nee, L. E. ; St. George-Hyslop, P. ; Pollen, D. A. ; Drachman, D. A. / Familial Alzheimer's disease : Site of mutation influences clinical phenotype. In: Annals of Neurology. 2000 ; Vol. 48, No. 3. pp. 376-379.
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