Kufor-Rakeb syndrome is a neurodegenerative disease, considered a form of Mendelian parkinsonism.
This syndrome has an autosomal recessive pattern of inheritance and was first described in an Arab consanguineous kindred.
Kufor-Rakeb syndrome has a juvenile onset, with features of Parkinson's disease as well as additional features including spasticity, dementia and supranuclear gaze paralysis 1.
The gene responsible has been named PARK9 and is located on chromosome 1p36 1.
Initially marked atrophy is confined to the globus pallidus. Later in the disease, more global atrophy develops 1.