title: Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.
abstract: Mutations in the presenilin 2 (PSEN2) gene are less commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 1 (PSEN1) genes. In fact, only 23 different mutations in the PSEN2 gene have been described in the literature. This paper deals with a sporadic case of a 55 year-old subject bearing an amino acid substitution from arginine to tryptophan at codon 71 of PSEN2 and presenting a peculiar early-onset Alzheimer's disease phenotype.
authors.affiliation: Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Piscopo
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Talarico
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Malvezzi-Campeggi
authors.forename: Alessio
authors.initials: A
authors.lastname: Crestini
authors.forename: Roberto
authors.initials: R
authors.lastname: Rivabene
authors.forename: Marina
authors.initials: M
authors.lastname: Gasparini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Tosto
authors.forename: Nicola
authors.initials: N
authors.lastname: Vanacore
authors.forename: Gian Luigi
authors.initials: GL
authors.lastname: Lenzi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Bruno
authors.forename: Annamaria
authors.initials: A
authors.lastname: Confaloni
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D053766:Presenilin-2 / Q000235:genetics*
chemical_list: D053766:Presenilin-2