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P1–314: A novel PSEN2 mutation in early–onset dementia with profound semantic loss
Author(s) -
Lindquist Suzanne G.,
Nielsen Jørgen E.,
Schwartz Marianne,
Hasholt Lis,
Nørremølle Anne,
Waldemar Gunhild
Publication year - 2006
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.2006.05.692
Subject(s) - psen1 , genetics , presenilin , exon , missense mutation , biology , proband , frontotemporal dementia , mutation , alzheimer's disease , dementia , gene , medicine , disease , pathology
The common apolipoprotein E (APOE) e4 allele is strongly associated with risk of dementia and age at onset, but studies are inconclusive as to whether the e4 allele affects rate of progression or survival in demented patients. Furthermore, previous observations suggest a contribution of two APOE promoter polymorphisms (-491 A/T and -219 G/T) in dementia, but the influence of these two polymorphisms on survival in demented patients have not been evaluated yet.