Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.
Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago, and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically re-assessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms.
Williams
David R
DR
The Queen Square Brain Bank for Neurological Disorders Reta Lila Weston Institute for Neurological Studies, University College London, London, United Kingdom.
Hadeed
Ali
A
al-Din
Amir S Najim
AS
Wreikat
Abdel-Latif
AL
Lees
Andrew J
AJ
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003704:Dementia / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D008279:Magnetic Resonance Imaging; D008297:Male; D020734:Parkinsonian Disorders / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D010375:Pedigree; D011712:Pyramidal Tracts / Q000473:pathology; D012720:Severity of Illness Index; D013494:Supranuclear Palsy, Progressive / Q000150:complications* / Q000235:genetics*
D000978:Antiparkinson Agents; D007980:Levodopa