[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]

Nervenarzt. 2009 Jan;80(1):62-3, 65-7. doi: 10.1007/s00115-008-2565-4.
[Article in German]

Abstract

We report a patient with early-onset autosomal dominant dementia. The CSF showed increased levels of tau protein and decreased amyloid beta (ratio 42:40) typical for Alzheimer's disease. Cerebral MRI revealed vascular lesions and white-matter changes around the posterior horns of the ventricles with only moderate atrophy of the brain. Susceptibility-weighted imaging detected multiple small hemorrhagic changes. Gene analysis revealed amyloid precursor protein (APP) locus duplication as the cause of hereditary Alzheimer's dementia. The co-occurrence of CSF changes typical for Alzheimer's disease and MRI findings of cerebral amyloid angiopathy is remarkable, as it is also described for APP locus duplication. In conjunction with a family history suggestive of hereditary dementia, such a constellation should lead to enhanced gene analysis.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Alzheimer Disease / congenital*
  • Alzheimer Disease / genetics*
  • Amyloid beta-Peptides / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Peptide Fragments / genetics*

Substances

  • Amyloid beta-Peptides
  • Peptide Fragments
  • amyloid beta-protein (40-42)