title: Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.
abstract: We describe a novel Leu174Arg PS1 mutation in two members of a Bavarian family which were initially diagnosed with frontotemporal dementia. Intriguingly, there is the possibility that there is an 18th century founder effect and that this family is related to original kindreds with familial Alzheimer disease described in the early 20th century.
authors.affiliation: Universitätsklinik für Psychiatrie, Regensburg, Germany. Hans.Kluenemann@bkr-regensburg.de
authors.forename: Hans H
authors.initials: HH
authors.lastname: Klünemann
authors.forename: Ekaterina
authors.initials: E
authors.lastname: Rogaeva
authors.forename: Manuela
authors.initials: M
authors.lastname: Neumann
authors.forename: Hans A
authors.initials: HA
authors.lastname: Kretzschmar
authors.forename: Michael
authors.initials: M
authors.lastname: Kandel
authors.forename: Anna
authors.initials: A
authors.lastname: Toulina
authors.forename: Christine
authors.initials: C
authors.lastname: Sato
authors.forename: Shabnam
authors.initials: S
authors.lastname: Salehi-Rad
authors.forename: Karin
authors.initials: K
authors.lastname: Pfister
authors.forename: Helmfried E
authors.initials: HE
authors.lastname: Klein
authors.forename: Peter H
authors.initials: PH
authors.lastname: St George-Hyslop
mesh_terms: D000544:Alzheimer Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D001120:Arginine; D001483:Base Sequence; D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D005858:Germany; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D007930:Leucine; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1; D013941:Thymine; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D006147:Guanine; D001120:Arginine; D007930:Leucine; D013941:Thymine