DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)

Am J Hum Genet. 1991 Sep;49(3):518-21.


Hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D) is tightly linked to the Alzheimer amyloid precursor protein gene on chromosome 21, which codes for the amyloid beta-protein. A point mutation detected at position 1852 of the amyloid precursor protein gene in four HCHWA-D patients was hypothesized to be the basic defect. This study proves that 22 HCHWA-D patients from three pedigrees all carry this point mutation, whereas the mutation is absent in escapees from the HCHWA-D families as well as in randomly selected Dutch individuals. A mutation-specific oligonucleotide is now available for the confirmation of the HCHWA-D diagnosis. Therefore, presymptomatic testing and prenatal evaluation of individuals at risk in the HCHWA-D families is now feasible.

MeSH terms

  • Aged
  • Amyloid beta-Peptides / genetics*
  • Amyloid beta-Protein Precursor
  • Amyloidosis / complications
  • Amyloidosis / diagnosis
  • Amyloidosis / genetics*
  • Base Sequence
  • Cerebral Hemorrhage / complications
  • Cerebral Hemorrhage / diagnosis
  • Cerebral Hemorrhage / genetics*
  • Chromosomes, Human, Pair 21
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Netherlands
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Protein Precursors / genetics*


  • Amyloid beta-Peptides
  • Amyloid beta-Protein Precursor
  • Protein Precursors