A novel PS1 gene mutation in a large Aboriginal kindred.
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.
Butler
Rachel
R
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC, Canada.
Beattie
B Lynn
BL
Thong
Umamon Puang
UP
Dwosh
Emily
E
Guimond
Colleen
C
Feldman
Howard H
HH
Hsiung
Ging-Yuek Robin
GY
Rogaeva
Ekaterina
E
St George-Hyslop
Peter
P
Sadovnick
A Dessa
AD
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*
D053764:Presenilin-1; D010649:Phenylalanine; D007930:Leucine