title: Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
abstract: We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds. The phenotype of PS1 N135D is an early-onset (34-38 years) disease. The mutation forms part of, and extends, the alpha-helical array of mutations in transmembrane 2 of the presenilins and leads to the suggestion that disruption of this helical face is the molecular insult that leads to disease.
authors.affiliation: Department of Psychiatry, University of South Florida, Tampa, USA.
authors.forename: R
authors.initials: R
authors.lastname: Crook
authors.forename: R
authors.initials: R
authors.lastname: Ellis
authors.forename: M
authors.initials: M
authors.lastname: Shanks
authors.forename: L J
authors.initials: LJ
authors.lastname: Thal
authors.forename: J
authors.initials: J
authors.lastname: Perez-Tur
authors.forename: M
authors.initials: M
authors.lastname: Baker
authors.forename: M
authors.initials: M
authors.lastname: Hutton
authors.forename: T
authors.initials: T
authors.lastname: Haltia
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: D
authors.initials: D
authors.lastname: Galasko
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D053764:Presenilin-1; D017385:Sequence Homology
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1