Kufor-Rakeb syndrome
Kufor-Rakeb syndrome is a neurodegenerative disease, considered a form of Mendelian parkinsonism.
Epidemiology
This syndrome has an autosomal recessive pattern of inheritance and was first described in an Arab consanguineous kindred.
Clinical presentation
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 .
Pathology
The gene responsible has been named PARK9 and is located on chromosome 1p36 .
Radiographic features
Initially marked atrophy is confined to the globus pallidus. Later in the disease, more global atrophy develops .
See also
Siehe auch:
Assoziationen und Differentialdiagnosen zu Kufor-Rakeb-Syndrom:
