title: The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
abstract: Two siblings fulfilling clinical diagnostic criteria for late-onset Alzheimer's disease (AD) are reported. The family history suggested a total of nine individuals affected with AD in three generations with autosomal dominant disease transmission. Neurogenetic testing of the proband revealed a mutation, R269H, in the presenilin-1 (PS1) gene. Late-onset AD may be associated with deterministic PS1 mutations; these should be sought when the family history suggests autosomal dominant disease transmission.
authors.affiliation: Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Lower Lane, Fazakerley, Liverpool, L9 7LJ, UK. a.larner@thewaltoncentre.nhs.uk
authors.forename: A J
authors.initials: AJ
authors.lastname: Larner
authors.forename: P S
authors.initials: PS
authors.lastname: Ray
authors.forename: M
authors.initials: M
authors.lastname: Doran
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: D053764:Presenilin-1