title: Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA. kenneth.kosik@lifesci.ucsb.edu.
authors.forename: Kenneth S
authors.initials: KS
authors.lastname: Kosik
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Claudia
authors.initials: C
authors.lastname: Muñoz
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Liliana
authors.initials: L
authors.lastname: Lopez
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Mary Luz
authors.initials: ML
authors.lastname: Arcila
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Gloria
authors.initials: G
authors.lastname: García
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Lucía
authors.initials: L
authors.lastname: Madrigal
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Sonia
authors.initials: S
authors.lastname: Moreno
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Silvia
authors.initials: S
authors.lastname: Ríos Romenets
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Hugo
authors.initials: H
authors.lastname: Lopez
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Madelyn
authors.initials: M
authors.lastname: Gutierrez
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Jessica B
authors.initials: JB
authors.lastname: Langbaum
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: William
authors.initials: W
authors.lastname: Cho
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Shehnaaz
authors.initials: S
authors.lastname: Suliman
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Pierre N
authors.initials: PN
authors.lastname: Tariot
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Carole
authors.initials: C
authors.lastname: Ho
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Eric M
authors.initials: EM
authors.lastname: Reiman
authors.affiliation: From the Neuroscience Research Institute (K.S.K., M.L.A.), University of California, Santa Barbara; Grupo de Neurociencias de Antioquia (C.M., L.L., G.G., L.M., S.M., S.R.R., H.L., M.G., F.L.), Universidad de Antioquia, Medellín, Colombia; Banner Alzheimer's Institute (J.B.L., P.N.T., E.M.R.), Phoenix, AZ; and Genentech (W.C., S.S., C.H.), South San Francisco, CA.
authors.forename: Francisco
authors.initials: F
authors.lastname: Lopera
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D002648:Child; D003105:Colombia; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1