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- W2047090438 abstract "There is currently little data available regarding Alzheimer disease (AD) in aboriginal communities and, to the best of our knowledge, there are no published cases of familial AD (FAD) in this population. Several members of an aboriginal family were independently identified through the UBC Hospital Clinic for Alzheimer Disease and Related Disorders (UBCH-CARD) from 1998 to 2007. All individuals underwent medical examination including neurological and neuropsychological assessment. Their family history was documented for genetic research and counseling purposes. The option of genetic testing for EOFAD was introduced to several affected individuals when it became available. A novel gene mutation (L250F, g.44769 G > T) in the presenilin 1 (PS1) gene was initially identified in one affected family member. The pathogenicity of this mutation was then confirmed by testing 4 affected and 2 elderly unaffected family members, ensuring that the gene change cosegregated with disease expression. Six of the affected family members have been assessed at UBCH-CARD, five of whom have been assessed longitudinally up to 10 years. Clinical information was also available on six deceased individuals who were reportedly affected and this was compatible with typical AD. The age of onset ranges from 55 to 66-years-old with a median age of 59 years. There is no neuropathology available to date. Allelic missense mutations (L250 V) and (L250S) have been reported previously (Furuya 2003, Mehrabian 2005, Hutton 1996, Harvey 1998). None of our patients have myoclonus, a prominent feature in the other reported families with different amino acid substitutions at this codon. We report a novel PS1 gene mutation, the first ever reported EOFAD gene mutation in a North American aboriginal population. The neurological features of affected individuals differ from those seen in non-aboriginal individuals with other reported PS1 mutations at the same codon." @default.
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- W2047090438 date "2009-07-01" @default.
- W2047090438 modified "2023-10-18" @default.
- W2047090438 title "O4-01-04: A novel PS1 mutation in a large aboriginal kindred with early onset familial Alzheimer's disease from a remote community in northern British Columbia" @default.
- W2047090438 doi "https://doi.org/10.1016/j.jalz.2009.05.516" @default.
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