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4. Kufor Rakeb Disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

Author

Amir S. Najim al-Din, Andrew J. Lees, David R. Williams, Ali Hadeed, and Abdel-Latif Wreikat

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Pyramidal Tracts, Globus Pallidus, Severity of Illness Index, Functional Laterality, Antiparkinson Agents, Levodopa, Parkinsonian Disorders, medicine, Humans, Dementia, Age of Onset, Cognitive decline, Child, Dystonia, Parkinsonism, medicine.disease, Magnetic Resonance Imaging, Supranuclear gaze palsy, Pedigree, nervous system diseases, Neurology, Chromosomes, Human, Pair 1, Kufor Rakeb syndrome, Female, Supranuclear Palsy, Progressive, Neurology (clinical), medicine.symptom, Psychology, Neuroscience, Machado–Joseph disease
Abstract

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. © 2005 Movement Disorder Society

Published
2005
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