Kufor-Rakeb syndrome

Kufor-Rakeb syndrome is an autosomal recessive disorder of juvenile onset, also known as Parkinson disease-9, first identified in 1994 and named for the region of Jordan where it was found. It is caused by mutations in the ATP13A2 gene on chromosome 1, which produce a defective lysosomal ATPase and lead to iron accumulation in the basal ganglia of the brain. Symptoms typically begin between ages 12 and 16 with juvenile-onset parkinsonism, including bradykinesia, rigidity and tremor, along with non-motor features such as cognitive disability, dementia and hallucinations. Fewer than 50 cases have been reported worldwide, making it an ultra-rare disorder, and there is currently no disease-modifying treatment; management relies on symptom relief with medications such as levodopa and carbidopa.