Kufor-Rakeb
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
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Brain CT and MRI may show diffuse moderate cerebral and cerebellar atrophy.
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Iron accumulation in the basal ganglia affecting the putamen and caudate is present in some, but not all individuals.
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Disease onset is usually in adolescence.
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Presenting symptoms include juvenile parkinsonism, dementia, abnormal eye movements and involuntary jerking of facial and finger muscles.
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Response to dopaminergic treatment has been noted, followed by the early development of dyskinesias (diminished voluntary movements and the presence of involuntary movements).