Kufor–Rakeb syndrome


Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9.

Clinical

Symptoms include supranuclear gaze palsy, spasticity and dementia. Other features include atypical parkinsonism with pyramidal signs and a characteristic minimyoclonus.
There is considerable variation in the phenotype.

Genetics

It is associated with mutations in the ATP13A2 gene. This gene is located on the short arm of chromosome 1.
Mutations in this gene have also been associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and neuronal ceroid lipofuscinosis.

History

It is named after Kufr Rakeb in Irbid, Jordan.