title: A novel PS1 gene mutation in a large Aboriginal kindred.
abstract: BACKGROUND
  There is currently little information on the genetic epidemiology of Alzheimer disease (AD) among North American Aboriginal populations. No cases of familial AD (FAD) in these populations have been published to date.
  
  
  METHODS
  Here, we describe a large North American Aboriginal kindred with early onset FAD (EOFAD) in which genetic testing was done.
  
  
  CONCLUSIONS
  A novel Presenilin 1 (PS1) gene mutation (L250F) has been identified. In contrast to the three previously reported families with PS1 codon 250 mutations, affected members of this kindred demonstrate neither myoclonus nor seizures. Furthermore, the identification of a PS1 mutation in a North American Aboriginal kindred presents several unique challenges with respect to knowledge transfer and continuity of care in a geographically remote and culturally distinct community.
authors.affiliation: Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC, Canada.
authors.forename: Rachel
authors.initials: R
authors.lastname: Butler
authors.forename: B Lynn
authors.initials: BL
authors.lastname: Beattie
authors.forename: Umamon Puang
authors.initials: UP
authors.lastname: Thong
authors.forename: Emily
authors.initials: E
authors.lastname: Dwosh
authors.forename: Colleen
authors.initials: C
authors.lastname: Guimond
authors.forename: Howard H
authors.initials: HH
authors.lastname: Feldman
authors.forename: Ging-Yuek Robin
authors.initials: GY
authors.lastname: Hsiung
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Peter
authors.initials: P
authors.lastname: St George-Hyslop
authors.forename: A Dessa
authors.initials: AD
authors.lastname: Sadovnick
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D002170:Canada / Q000453:epidemiology / Q000208:ethnology; D005192:Family Health; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D010649:Phenylalanine / Q000235:genetics; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D053764:Presenilin-1; D010649:Phenylalanine; D007930:Leucine