Journal
JOURNAL OF MEDICAL GENETICS
Volume 38, Issue 10, Pages 680-682Publisher
BRITISH MED JOURNAL PUBL GROUP
DOI: 10.1136/jmg.38.10.680
Keywords
Kufor-Rakeb syndrome; autozygosity mapping; Parkinson's disease; chromosome 1p36
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Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.
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