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.
A novel A beta PP mutation exclusively associated with cerebral amyloid angiopathy
GENOVESE, EUGENIO ANNIBALE;
2005
Abstract
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.
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