title: A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
abstract: A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. The mutation was identified in two affected members with early onset Alzheimer's disease characterised by early and marked behavioural disturbances. The mutation is located on the same side of the helix as other described mutations in the first transmembrane domain and its relation to other mutations in this helix suggests that they share a common pathogenic mechanism.
authors.affiliation: Genetics Service, Hospital Clínic, Universitat de Barcelona, Spain. roliva@clinic.ub.es
authors.forename: R
authors.initials: R
authors.lastname: Queralt
authors.forename: M
authors.initials: M
authors.lastname: Ezquerra
authors.forename: A
authors.initials: A
authors.lastname: Lleó
authors.forename: M
authors.initials: M
authors.lastname: Castellví
authors.forename: J
authors.initials: J
authors.lastname: Gelpí
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.forename: N
authors.initials: N
authors.lastname: Acarín
authors.forename: L
authors.initials: L
authors.lastname: Pasarín
authors.forename: R
authors.initials: R
authors.lastname: Blesa
authors.forename: R
authors.initials: R
authors.lastname: Oliva
mesh_terms: D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002883:Chromosomes, Human, Pair 14; D004252:DNA Mutational Analysis; D005091:Exons; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009483:Neuropsychological Tests; D010375:Pedigree; D053764:Presenilin-1
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1