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NEUROLOGY 2004;63:910-912
© 2004 American Academy of Neurology
Brief Communications

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

G. Rossi, PhD, G. Giaccone, MD, R. Maletta, MD, M. Morbin, MD, R. Capobianco, DVM, M. Mangieri, DVM, A. R. Giovagnoli, MD, A. Bizzi, MD, C. Tomaino, PhD, M. Perri, PhD, M. Di Natale, PhD, F. Tagliavini, MD, O. Bugiani, MD and A. C. Bruni, MD

From the Division of Neuropathology and Neurology 5 (Drs. Rossi, Giaccone, Morbin, Capobianco, Mangieri, Giovagnoli, Tagliavini, and Bugiani) and the Division of Neuroradiology (Dr. Bizzi), Istituto Nazionale Neurologico Carlo Besta, Milan; and Centro Regionale di Neurogenetica AS 6 (Drs. Maletta, Tomaino, Perri, Di Natale, and Bruni), Lamezia Terme (CZ), Italy.

Address correspondence and reprint requests to Dr. Orso Bugiani, Istituto Nazionale Neurologico Carlo Besta, via Celoria 11, 20133 Milan, Italy; e-mail: bugiani1{at}virgilio.it

Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene. The neuropathologic examination of the proband disclosed Alzheimer disease (AD) with severe cerebral amyloid angiopathy and multiple infarcts. This indicates that the A713T mutation of the APP gene, lying at the {gamma}-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.

Received December 3, 2003. Accepted in final form May 3, 2004.




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