Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type

DOI Web Site 33 Citations
  • Efrat Levy
    Department of Pathology, New York University Medical Center, New York, NY 10016.
  • Mark D. Carman
    Athena Neurosciences, Inc., South San Francisco, CA 94080.
  • Ivan J. Fernandez-Madrid
    Department of Pathology, New York University Medical Center, New York, NY 10016.
  • Michael D. Power
    Athena Neurosciences, Inc., South San Francisco, CA 94080.
  • Ivan Lieberburg
    Athena Neurosciences, Inc., South San Francisco, CA 94080.
  • Sjoerd G. van Duinen
    Departrnent of Pathology, University Medical Center Leiden, 2300 R.C. Leiden, the Netherlands.
  • Gerard Th. A. M. Bots
    Departrnent of Pathology, University Medical Center Leiden, 2300 R.C. Leiden, the Netherlands.
  • Willem Luyendijk
    Department of Neurosurgery, University Medical Center Leiden, 2300 R.C. Leiden, the Netherlands.
  • Blas Frangione
    Kaplan Cancer Center, New York University Medical Center, New York, NY 10016.

Abstract

<jats:p>An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. Cloning and sequencing of the two exons that encode the amyloid protein from two patients with this amyloidosis revealed a cytosine-to-guanine transversion, a mutation that caused a single amino acid substitution (glutamine instead of glutamic acid) at position 22 of the amyloid protein. The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death.</jats:p>

Journal

  • Science

    Science 248 (4959), 1124-1126, 1990-06

    American Association for the Advancement of Science (AAAS)

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