Kufor-Rakeb Syndrome

Background and History: 

This is a recently described hereditary degeneration disorder of the brain.  It is a type of early onset Parkinsonism with the addition of other neurological signs.  It is named after the region in Jordan where it was first identified.

Clinical Correlations: 

Onset of symptoms and signs of Parkinsonism occurs between the ages of 12 and 16 years of age.  Within a year of onset, there are signs of deterioration of movement including difficulty walking and moving.  There is also often signs of deterioration of mental functioning and cognition.  There is also the onset of uncoordinated fine movements of the lips and chin but the characteristic tremors of the fingers and hands seen in Parkinsonism are not present.  The legs may become more rigid and balance problems (ataxia) are noted.  Often there is some difficulty in swallowing and a slurred quality to speech.  Some patients note changes of touch and loss of sense of smell.  Many patients are unable to look upward and move the eyes normally.  Dementia is seen in some individuals.

MRIs of the brain reveal variable and widespread damage to various structures.


This is an autosomal recessive disorder requiring that both members of a pair of a specific gene are changed (mutated).  The parents are clinically normal but both carry a single copy of the mutated gene.  Their offspring each inherit a 25% risk of developing the syndrome.

Diagnosis and Prognosis: 

Pediatricians and neurologists are likely to collaborate on the diagnosis and care of patients with this conditions.  Many of the signs and symptoms are nondiagnostic and the diagnosis requires recognizing the full range of clinical manifestations in combination.  MRIs of the brain are required for diagnosis.

This condition is rapidly progressive especially with regard to mobility and cognition.  Physical therapy and special education could be helpful in early stages.  The drug L-DOPA if used early can improve mobility and other signs but the benefits may become less evident with time.

No information regarding longevity is available.

Additional Information
Autosomal recessive