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A Novel PS1 Gene Mutation in a Large Aboriginal Kindred

Published online by Cambridge University Press:  02 December 2014

Rachel Butler
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
B. Lynn Beattie
Affiliation:
Division of Geriatric Medicine, Faculty of Medicine, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Umamon Puang Thong
Affiliation:
Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Emily Dwosh
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Colleen Guimond
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Howard H. Feldman
Affiliation:
Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC Neuroscience Bristol-Myers, Squibb Wallingford, CT, USA
Ging-Yuek Robin Hsiung
Affiliation:
Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
Ekaterina Rogaeva
Affiliation:
Department of Medicine and Centre for Research in Neurodegenerative Diseases, University of Toronto, Ontario, Canada
Peter St. George-Hyslop
Affiliation:
Department of Medicine and Centre for Research in Neurodegenerative Diseases, University of Toronto, Ontario, Canada
A. Dessa Sadovnick*
Affiliation:
Department of Medical Genetics, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC Division of Neurology, UBC Hospital Clinic for Alzheimer Disease & Related Disorders, Vancouver, BC
*
FINAL REVISIONS SUBMITTED DECEMBER 14, 2009. Correspondence to: A.D. Dessa Sadovnick, VCHA-UBC Hospital, 2211 Wesbrook Mall, Vancouver, British Columbia, V6T 2B5, Canada.
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Abstract

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Background:

There is currently little information on the genetic epidemiology of Alzheimer disease (AD) among North American Aboriginal populations. No cases of familialAD (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.

Results and 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.

Type
Original Article
Copyright
Copyright © The Canadian Journal of Neurological 2010

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