Genetic evidence for a novel familial Alzheimer’s disease locus on chromosome 14

P. St George-Hyslop, J. Haines, E. Rogaev, M. Mortilla, G. Vaula, M. Pericak-Vance, J. F. Foncin, M. Montesi, A. Bruni, S. Sorbi, I. Rainero, L. Pinessi, D. Pollen, R. Polinsky, L. Nee, J. Kennedy, F. Macciardi, E. Rogaeva, Y. Liang, N. AlexandrovaW. Lukiw, K. Schlumpf, R. Tanzi, T. Tsuda, L. Farrer, J. M. Cantu, R. Duara, L. Amaducci, L. Bergamini, J. Gusella, A. Roses, D. Crapper McLachlan

Research output: Contribution to journalArticlepeer-review

422 Scopus citations


Familial Alzheimer's disease (FAD) has been shown to be genetically heterogeneous, with a very small proportion of early onset pedigrees being associated with mutations in the amyloid precursor protein (APP) gene on chromosome 21, and some late onset pedigrees showing associations with markers on chromosome 19. We now provide evidence for a major early onset FAD locus on the long arm of chromosome 14 near the markers D14S43 and D14S53 (multipoint lod score ẑ = 23.4) and suggest that the inheritance of FAD may be more complex than had initially been suspected.

Original languageEnglish (US)
Pages (from-to)330-334
Number of pages5
JournalNature genetics
Issue number4
StatePublished - Dec 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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