Kufor-Rakeb is an inherited autosomal recessive disorder.
Kufor-Rakeb is named for the village in Jordan where it was first described in 1994.
In 2010, a mutation in the ATP13A2 gene was deemed responsible.
Two U.S. families have been diagnosed with this disorder and there are a few in South America, the Middle East, Asian countries and one from Italy.
It has been suggested that only a portion of cases may have iron accumulation; it may develop late in disease course, or it may only be associated with more severe mutations.
Clinical Diagnosis of Kufor-Rakeb
Brain CT and MRI may show diffuse moderate cerebral and cerebellar atrophy.
Iron accumulation in the basal ganglia affecting the putamen and caudate is present in some, but not all individuals.
Disease onset is usually in adolescence.
Presenting symptoms include juvenile parkinsonism, dementia, abnormal eye movements and involuntary jerking of facial and finger muscles.
Response to dopaminergic treatment has been noted, followed by the early development of dyskinesias (diminished voluntary movements and the presence of involuntary movements).