Article
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
PloS one - 1 Jan 2012
Cruchaga Carlos, Haller Gabe, Chakraverty Sumitra, Mayo Kevin, Vallania Francesco L M, Mitra Robi D, Faber Kelley, Williamson Jennifer, Bird Tom, Diaz-Arrastia Ramon, Foroud Tatiana M, Boeve Bradley F, Graff-Radford Neill R, St Jean Pamela, Lawson Michael, Ehm Margaret G, Mayeux Richard, Goate Alison M
Abstract excerpt
Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been...
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