1 research outputs found
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
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.
(J Med Genet 2001;38:680–682