Kufor–rakeb Syndrome

Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9).

Presentation

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 (1p36.13).

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.