A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy

Ann Neurol. 2005 Oct;58(4):639-44. doi: 10.1002/ana.20571.


Mutations in AbetaPP cause deposition of Abeta 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 Abeta sequence of AbetaPP 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 Abeta, resulting in CAA instead of the pathological hallmarks of AD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyloid beta-Peptides / metabolism
  • Amyloid beta-Protein Precursor / genetics*
  • Amyloid beta-Protein Precursor / metabolism
  • Blotting, Northern / methods
  • Brain / pathology
  • Cerebral Amyloid Angiopathy, Familial / genetics*
  • Cerebral Amyloid Angiopathy, Familial / pathology
  • DNA Mutational Analysis
  • Family Health
  • Humans
  • Leucine / genetics
  • Mutation*
  • Neurofibrillary Tangles / pathology
  • Pedigree
  • Tomography, X-Ray Computed / methods
  • Valine / genetics


  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Leucine
  • Valine