Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation
Objectives.—To characterize clinical features of a very large pedigree with early-onset
Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-
alanine mutation at codon 280 in the presenilin-1 gene. Design.—Clinical histories were
obtained by patient and family interviews and through medical or civil records. Using
standard diagnostic criteria, a case series of 128 individuals was identified, of which 6 have
definitive (autopsy-proven) early-onset AD, 93 have probable early-onset AD, and 29 have …
Alzheimer disease (AD) in which all affected individuals carry the identical glutamic acid-to-
alanine mutation at codon 280 in the presenilin-1 gene. Design.—Clinical histories were
obtained by patient and family interviews and through medical or civil records. Using
standard diagnostic criteria, a case series of 128 individuals was identified, of which 6 have
definitive (autopsy-proven) early-onset AD, 93 have probable early-onset AD, and 29 have …