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Neurology 2000;55:1577-1579
© 2000 American Academy of Neurology
Brief Communications

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

G. Raux, PhD, R. Gantier, PhD, C. Thomas–Anterion, MD, J. Boulliat, MD, P. Verpillat, MD, D. Hannequin, MD, A. Brice, MD, PhD, T. Frebourg, MD, PhD and D. Campion, MD, PhD

From INSERM EPI 9906 (Drs. Raux, Gantier, Hannequin, Frebourg, and Campion), Rouen; CHU Bellevue (Dr. Thomas–Anterion), St. Etienne; CHR Bourg en Bresse (Dr. Boulliat); and INSERM U 289 (Drs. Verpillat and Brice), Paris, France.

Address correspondence and reprint requests to Dr. D. Campion, INSERM EPI 9906, IRFMP, Faculté de Médecine et de Pharmacie, 76183 Rouen, France; e-mail: dominique.campion{at}univ-rouen.fr

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




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