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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 \ud

By D.J. Hampshire, E. Roberts, Y. Crow, J. Bond, A. Mubaidin, A.L. Wriekat, A. Al-Din and C.G. Woods

Abstract

Kufor-Rakeb syndrome is an autosomal\ud recessive nigro-striatal-pallidal-pyramidal\ud neurodegeneration. The onset is in the\ud teenage years with clinical features of Parkinson’s\ud disease plus spasticity, supranuclear\ud upgaze paresis, and dementia. Brain\ud scans show atrophy of the globus pallidus\ud and pyramids and, later, widespread cerebral\ud atrophy. We report linkage in Kufor-\ud Rakeb syndrome to a 9 cM region of\ud chromosome 1p36 delineated by the markers\ud D1S436 and D1S2843, with a maximum\ud multipoint lod score of 3.6.\ud (J Med Genet 2001;38:680–682

Year: 2001
OAI identifier: oai:eprints.whiterose.ac.uk:250

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