Literature DB >> 15365148

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

G Rossi1, G Giaccone, R Maletta, M Morbin, R Capobianco, M Mangieri, A R Giovagnoli, A Bizzi, C Tomaino, M Perri, M Di Natale, F Tagliavini, O Bugiani, A C Bruni.   

Abstract

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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Year:  2004        PMID: 15365148     DOI: 10.1212/01.wnl.0000137048.80666.86

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  19 in total

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