Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.
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.
Klünemann
Hans H
HH
Universitätsklinik für Psychiatrie, Regensburg, Germany. Hans.Kluenemann@bkr-regensburg.de
Rogaeva
Ekaterina
E
Neumann
Manuela
M
Kretzschmar
Hans A
HA
Kandel
Michael
M
Toulina
Anna
A
Sato
Christine
C
Salehi-Rad
Shabnam
S
Pfister
Karin
K
Klein
Helmfried E
HE
St George-Hyslop
Peter H
PH
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
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D006147:Guanine; D001120:Arginine; D007930:Leucine; D013941:Thymine