1. A novelAβPP mutation exclusively associated with cerebral amyloid angiopathy
- Author
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Laura Obici, Giulia de Rosa, Marta Diegoli, Giovanni Palladini, Sabrina Marciano, A Demarchi, Simona Donadei, S. Coverlizza, Egidio Genovese, Giancarlo Ferrari, Eloisa Arbustini, Giampaolo Merlini, and Vittorio Bellotti
- Subjects
Pathology ,medicine.medical_specialty ,DNA Mutational Analysis ,Fibril ,medicine.disease_cause ,Amyloid beta-Protein Precursor ,Leucine ,mental disorders ,Parenchyma ,Humans ,Medicine ,Pathological ,Tropism ,Family Health ,Mutation ,Amyloid beta-Peptides ,business.industry ,Brain ,Neurofibrillary Tangles ,Valine ,Blotting, Northern ,medicine.disease ,Pedigree ,Neurology ,Aβ amyloid ,Neurology (clinical) ,Cerebral amyloid angiopathy ,Tomography, X-Ray Computed ,business ,Novel mutation ,Cerebral Amyloid Angiopathy, Familial - 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. Ann Neurol 2005;58:639-644
- Published
- 2005
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