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O4‐01‐05: Genetic variants in 14q chromosomal region are associated with memory in late‐onset Alzheimer's disease
Author(s) -
Barral Sandra,
Lee Joseph H.,
Cheng Rong,
Reitz Christiane,
Santana Vincent,
Williamson Jennifer,
Lantigua Rafael,
Rogaeva Ekaterina,
St. George Hyslop P.,
Mayeux Richard
Publication year - 2009
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2009.05.517
Subject(s) - single nucleotide polymorphism , biology , snp , linkage disequilibrium , genetics , locus (genetics) , genetic association , psen1 , haplotype , tag snp , genome wide association study , population , quantitative trait locus , candidate gene , snp genotyping , chromosomal region , alzheimer's disease , gene , disease , genotype , medicine , pathology , presenilin , environmental health
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. Conclusions: 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.