Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Research output: Contribution to journalArticlepeer-review

  • Authors:
  • D. J. Hampshire
  • E. Roberts
  • Y. Crow
  • J. Bond
  • A. Mubaidin
  • And 3 others
  • External authors:
  • A. L. Wriekat
  • A. Al-Din
  • C. G. Woods

Abstract

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.

Bibliographical metadata

Original languageEnglish
Pages (from-to)680-682
Number of pages2
JournalJournal of Medical Genetics
Volume38
Issue number10
Publication statusPublished - 2001