title: Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.
abstract: 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.
authors.affiliation: INSERM EPI 9906 Campion), Rouen, France.
authors.forename: G
authors.initials: G
authors.lastname: Raux
authors.forename: R
authors.initials: R
authors.lastname: Gantier
authors.forename: C
authors.initials: C
authors.lastname: Thomas-Anterion
authors.forename: J
authors.initials: J
authors.lastname: Boulliat
authors.forename: P
authors.initials: P
authors.lastname: Verpillat
authors.forename: D
authors.initials: D
authors.lastname: Hannequin
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
authors.forename: D
authors.initials: D
authors.lastname: Campion
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1