/Kufor-Rakeb syndrome

Kufor-Rakeb syndrome

Rare Disease

MONDO:0011706

Also Known As

Kufor Rakeb SyndromeKufor-Rakeb syndromePARK9autosomal recessive Parkinson disease 9autosomal recessive juvenile onset Parkinson disease 9KRPPDKRSPallidopyramidal Degeneration with supranuclear upgaze paresis and dementiaPallidopyramidal degeneration with supranuclear upgaze paresis, and dementiaParkinson disease 9, autosomal recessiveParkinson disease 9, autosomal recessive, juvenile-onsetParkinson disease type 9ceroid lipofuscinosis, neuronal, 12park 9

Definition

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.