Article
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
Archives of neurology - 1 Aug 2010
Bugiani Orso, Giaccone Giorgio, Rossi Giacomina, Mangieri Michela, Capobianco Raffaella, Morbin Michela, Mazzoleni Giulia, Cupidi Chiara, Marcon Gabriella, Giovagnoli Annarita, Bizzi Alberto, Di Fede Giuseppe, Puoti Gianfranco, Carella Francesco, Salmaggi Andrea, Romorini Alessandro, Patruno Giorgio M, Magoni Mauro, Padovani Alessandro, Tagliavini Fabrizio
Abstract excerpt
OBJECTIVE: To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. DESIGN: Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic...
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