Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
The authors report a presenilin 1 (PSEN1) mutation (L113P) in a family with six cases of dementia. The patients had personality changes and behavioral disorders, whereas spatial orientation and praxis were preserved late in the course of the illness. Neuroimaging features were consistent with the diagnosis of frontotemporal dementia. The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.
Raux
G
G
INSERM EPI 9906 Campion), Rouen, France.
Gantier
R
R
Thomas-Anterion
C
C
Boulliat
J
J
Verpillat
P
P
Hannequin
D
D
Brice
A
A
Frebourg
T
T
Campion
D
D
D000328:Adult; D003704:Dementia / Q000235:genetics*; D005260:Female; D005625:Frontal Lobe; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D053764:Presenilin-1; D013702:Temporal Lobe
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1