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NEUROLOGY 2003;61:1136-1137
© 2003 American Academy of Neurology
Brief Communications

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

F. Portet, MD, Y. Dauvilliers, MD, D. Campion, MD PhD, G. Raux, PhD, J.J. Hauw, MD, O. Lyon-Caen, MD, W. Camu, MD PhD and J. Touchon, MD

From UNCD (Drs. Portet, Dauvilliers, Camu, and Touchon), Gui de Chauliac Hospital, Montpellier; INSERM E 0361 (Drs. Portet, Dauvilliers, and Touchon), Montpellier Hospital; and INSERM E 9906 (Drs. Campion and Raux), Faculty of Medicine, Rouen; Paris Hospital (Drs. Hauw and Lyon-Caen), Paris, France.

Address correspondence and reprint requests to Dr. Florence Portet, UNCD, Gui de Chauliac Hospital, 80 rue Auguste Fliche, 34295 Montpellier cedex 05, France; e-mail: Floportet{at}aol.com

The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).

Received August 2, 2002. Accepted in final form June 26, 2003.




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