Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

• Published in: PloS one Vol. 7; no. 2; p. e31039
• Main Authors: Cruchaga, Carlos, 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.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.02.2012; Public Library of Science (PLoS)
• Subjects: Adult; Advertising executives; Age; Aged; Aged, 80 and over; Aging; Alzheimer Disease - genetics; Alzheimer's disease; Alzheimers disease; Amyloid beta-Protein Precursor - genetics; Biology; Brain research; Dementia; Dementia disorders; Deoxyribonucleic acid; Disease control; DNA; Family; Female; Genes; Genetic aspects; Genetic counseling; Genetic Predisposition to Disease - genetics; Genetics; Genomes; Genomics; Health risks; Heritability; Humans; Intercellular Signaling Peptides and Proteins - genetics; Male; Medicine; Middle Aged; Mutation; Neurodegeneration; Neurodegenerative diseases; Neurology; Nominations; Pedigree; Presenilin-1 - genetics; Presenilin-2 - genetics; Progranulins; Proteins; Psychiatry; Risk; Studies; Surgeons; Task forces; tau Proteins - genetics; North Carolina; New York; United States > US; Missouri; Indianapolis Indiana

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...