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A novel AβPP mutation exclusively associated with cerebral amyloid angiopathy
Author(s) -
Obici Laura,
Demarchi Andrea,
de Rosa Giulia,
Bellotti Vittorio,
Marciano Sabrina,
Donadei Simona,
Arbustini Eloisa,
Palladini Giovanni,
Diegoli Marta,
Genovese Egidio,
Ferrari Giancarlo,
Coverlizza Sergio,
Merlini Giampaolo
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20571
Subject(s) - cerebral amyloid angiopathy , angiopathy , amyloid (mycology) , medicine , mutation , pathology , neuroscience , dementia , psychology , biology , genetics , endocrinology , gene , disease , diabetes mellitus
Mutations in AβPP cause deposition of Aβ amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Aβ sequence of AβPP in a family with autosomal dominant, recurrent intracerebral hemorrhages. Pathological examination disclosed severe CAA, without parenchymal amyloid plaques or neurofibrillary tangles. This variant highlights the vascular tropism of mutated Aβ, resulting in CAA instead of the pathological hallmarks of AD. Ann Neurol 2005;58:639‐644