Article
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
JAMA - 12 Mar 1997
Lopera F, Ardilla A, Martínez A, Madrigal L, Arango-Viana J C, Lemere C A, Arango-Lasprilla J C, Hincapíe L, Arcos-Burgos M, Ossa J E, Behrens I M, Norton J, Lendon C, Goate A M, Ruiz-Linares A, Rosselli M, Kosik K S
Abstract excerpt
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...
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