Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

G Raux, R Gantier, C Thomas–Anterion, J Boulliat… - Neurology, 2000 - AAN Enterprises
G Raux, R Gantier, C Thomas–Anterion, J Boulliat, P Verpillat, D Hannequin, A Brice
Neurology, 2000AAN Enterprises
Article 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.–1578
Article 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.–1578
American Academy of Neurology