Genetic Counseling for Early-onset Familial Alzheimer Disease in Large Aboriginal Kindred from a Remote Community in British Columbia: Unique Challenges and Possible Solutions |
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Authors: | Rachel Butler Emily Dwosh B Lynn Beattie Colleen Guimond Sofia Lombera Elana Brief Judy Illes A Dessa Sadovnick |
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Institution: | (1) Medical Genetics, University of British Columbia, Vancouver, BC, Canada;(2) Geriatric Medicine, University of British Columbia, Vancouver, BC, Canada;(3) Neurology, University of British Columbia, Vancouver, BC, Canada;(4) S113-2211 Wesbrook Mall, Vancouver, BC V6T 2B5, Canada; |
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Abstract: | A novel, pathogenic presenilin 1 (PS1) mutation has recently been identified in a large Aboriginal kindred living in dispersed
communities throughout British Columbia, Canada. Disseminating genetic information and ensuring that appropriate genetic counseling
services are provided to all concerned relatives have posed several unique challenges. These challenges include knowledge
exchange and continuity of care in a geographically remote and culturally distinct community. To our knowledge, this is the
first time a specific genetic counseling approach has been needed for early-onset familial Alzheimer disease (EOFAD) in a
North American Aboriginal community. |
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