Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

Mov Disord. 2005 Oct;20(10):1264-71. doi: 10.1002/mds.20511.


Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago, and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically re-assessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Antiparkinson Agents / therapeutic use*
  • Child
  • Chromosomes, Human, Pair 1 / genetics
  • Dementia / complications*
  • Dementia / genetics*
  • Dementia / pathology
  • Female
  • Functional Laterality / physiology
  • Globus Pallidus / pathology
  • Humans
  • Levodopa / therapeutic use*
  • Magnetic Resonance Imaging
  • Male
  • Parkinsonian Disorders* / complications
  • Parkinsonian Disorders* / drug therapy
  • Parkinsonian Disorders* / genetics
  • Pedigree
  • Pyramidal Tracts / pathology
  • Severity of Illness Index
  • Supranuclear Palsy, Progressive / complications*
  • Supranuclear Palsy, Progressive / genetics*


  • Antiparkinson Agents
  • Levodopa