Kufor–Rakeb syndrome

Kufor–Rakeb syndrome

Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9)[1].

Symptoms include supranuclear gaze palsy, spasticity, and dementia[1]. It can be associated with ATP13A2. It is named after Kufr Rakeb in Irbid, Jordan.

References

  1. 1 2 Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Mov. Disord. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421.
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