title: Novel mutations and repeated findings of mutations in familial Alzheimer disease.
abstract: Twenty-one unrelated patients with a history of suspected familial Alzheimer disease (FAD) were screened for mutations in PSEN1, PSEN2, and APP, the known FAD genes encoding the presenilins (PS1 and PS2) and the amyloid precursor protein (APP). The mutation detection rate was 57%. Of the nine pathogenic mutations found in 12 cases, three were in APP, one in PSEN2, and five in PSEN1, including two novel Greek mutations (L113Q and N135S). Whereas our findings suggest the possibility of single founders for the majority of mutations, we found evidence of recurrence of the APP mutations V717L and V717I.
authors.affiliation: Institute of Human Genetics, University Hospital Hamburg-Eppendorf, University of Hamburg, Butenfeld 42, 22529 Hamburg, Germany. finckh@uke.uni-hamburg.de
authors.forename: Ulrich
authors.initials: U
authors.lastname: Finckh
authors.forename: Christian
authors.initials: C
authors.lastname: Kuschel
authors.forename: Maria
authors.initials: M
authors.lastname: Anagnostouli
authors.forename: Efstratios
authors.initials: E
authors.lastname: Patsouris
authors.forename: George V
authors.initials: GV
authors.lastname: Pantes
authors.forename: Stylianos
authors.initials: S
authors.lastname: Gatzonis
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kapaki
authors.forename: Panagiota
authors.initials: P
authors.lastname: Davaki
authors.forename: Katrin
authors.initials: K
authors.lastname: Lamszus
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Stavrou
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D005192:Family Health; D005260:Female; D018703:Founder Effect; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D053764:Presenilin-1; D053766:Presenilin-2
chemical_list: D016564:Amyloid beta-Protein Precursor; D008565:Membrane Proteins; C508853:PSEN1 protein, human; C508861:PSEN2 protein, human; D053764:Presenilin-1; D053766:Presenilin-2