Genetic Counseling for Early-onset Familial Alzheimer Disease in Large Aboriginal Kindred from a Remote Community in British Columbia: Unique Challenges and Possible Solutions

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 re...

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Veröffentlicht in:Journal of genetic counseling 2011-04, Vol.20 (2), p.136-142
Hauptverfasser: Butler, Rachel, Dwosh, Emily, Beattie, B. Lynn, Guimond, Colleen, Lombera, Sofia, Brief, Elana, Illes, Judy, Sadovnick, A. Dessa
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Sprache:eng
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Zusammenfassung: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.
ISSN:1059-7700
1573-3599
DOI:10.1007/s10897-010-9334-9