期刊
JOURNAL OF GENETIC COUNSELING
卷 20, 期 2, 页码 136-142出版社
SPRINGER
DOI: 10.1007/s10897-010-9334-9
关键词
Genetic counseling; Rural; Aboriginal; Alzheimer disease
资金
- North Growth Foundation
- British Columbia Rural and Remote Health Research Network (BCRRHRN)
- Canadian Institutes of Health Research (CIHR)
- Canadian Foundation for Innovation (CFI)
- British Columbia Knowledge Development Fund (BCKDF)
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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