Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

Parvoneh Poorkaj, Vikram Sharma, Leojean Anderson, Ellen Nemens, Ma Elias Alonso, Harry Orr, June White, Leonard Heston, Thomas D. Bird, Gerard D. Schellenberg

Research output: Contribution to journalArticlepeer-review

46 Scopus citations

Abstract

Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy- documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A426P, and E120D), two were previously reported mutations in new families, and three mutations were confirmed in previously published families. Two of these new mutations are found within predicted transmembrane domains (TMDs 4, 7, and 8). The A426P mutation is the most C-terminal PS1 mutation identified to date.

Original languageEnglish (US)
Pages (from-to)216-221
Number of pages6
JournalHuman mutation
Volume11
Issue number3
DOIs
StatePublished - Apr 4 1998

Keywords

  • Alzheimer's disease
  • Dementia
  • Mutations
  • Presenilin 1
  • Presenilin 2
  • S182
  • STM2

Fingerprint

Dive into the research topics of 'Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene'. Together they form a unique fingerprint.

Cite this