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Neurology. 2004 Sep 14;63(5):910-2.

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

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  • 1Division of Neuropathology and Neurology 5, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.


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.

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