title: A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.
abstract: We report a novel presenilin-1 (PSEN1) mutation, I202F occurring in a Welsh kindred with familial Alzheimer's disease. The average age at onset was 53 years. The I202F mutation occurs in alignment with previously reported PSEN1 mutations in the fourth transmembrane domain and confirms that PSEN1 mutations line up along transmembrane alpha-helices.
authors.affiliation: Department of Neurology, Royal Gwent Hospital, Newport, Gwent, UK.
authors.forename: Alistair
authors.initials: A
authors.lastname: Church
authors.forename: Junita
authors.initials: J
authors.lastname: Prescott
authors.forename: Suzanne
authors.initials: S
authors.lastname: Lillis
authors.forename: Janice
authors.initials: J
authors.lastname: Rees
authors.forename: Patrick
authors.initials: P
authors.lastname: Chance
authors.forename: Kathryn
authors.initials: K
authors.lastname: Williamson
authors.forename: Huw R
authors.initials: HR
authors.lastname: Morris
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010649:Phenylalanine / Q000235:genetics*; D011237:Predictive Value of Tests; D053764:Presenilin-1 / Q000235:genetics*
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1; D007532:Isoleucine; D010649:Phenylalanine