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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.

The University of British Columbia Hospital Clinic for Alzheimer Disease and Related Disorders (UBCH-CARD) invests significant effort to obtain medical records for the confirmation of patient-reported family histories of dementia. The effectiveness of requesting these records was assessed through a review of the 275 requests made by UBCH-CARD genetic counselors during the 24-month period of January 1, 2005-December 31, 2006. The results were categorized according to outcome. Useful medical records were obtained from 92 (33.5%) requests: 77 (28%) records supported, and 15 (5.5%) records did not support, the patient-reported information. An additional 20 (7.5%) requests yielded only vague information. When verification was possible, patient-reported family histories of Alzheimer disease, dementia, or memory loss were accurate in 84% of cases. During the study period, almost 500 h of genetic counselor work time was spent obtaining, reviewing, and following-up on records received. Changes made to UBCH-CARD procedure in response to these findings are discussed.

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., 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.