A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene

Neurology. 2004 Sep 14;63(5):910-2. doi: 10.1212/01.wnl.0000137048.80666.86.

Abstract

Three members of an Italian family with autosomal dominant dementia and multiple strokes had the A713T mutation of the APP gene. The neuropathologic examination of the proband disclosed Alzheimer disease (AD) with severe cerebral amyloid angiopathy and multiple infarcts. This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Amino Acid Substitution
  • Amyloid Precursor Protein Secretases
  • Amyloid beta-Protein Precursor / chemistry
  • Amyloid beta-Protein Precursor / genetics*
  • Aspartic Acid Endopeptidases
  • Brain / pathology
  • Cerebral Amyloid Angiopathy / genetics*
  • Cerebral Amyloid Angiopathy / pathology
  • Cerebral Infarction / genetics*
  • Cerebral Infarction / pathology
  • Codon / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Endopeptidases / metabolism
  • Female
  • Genes, Dominant
  • Humans
  • Italy
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Pedigree
  • Point Mutation*

Substances

  • Amyloid beta-Protein Precursor
  • Codon
  • Amyloid Precursor Protein Secretases
  • Endopeptidases
  • Aspartic Acid Endopeptidases
  • BACE1 protein, human