Dj. Hampshire et al., Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36, J MED GENET, 38(10), 2001, pp. 680-682
Citations number
14
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyra
midal neurodegeneration. The onset is in the teenage years with clinical fe
atures 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 D1S4
36 and D1S2843, with a maximum multipoint lod score of 3.6.