Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36Citation formats
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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. / Hampshire, D. J.; Roberts, E.; Crow, Y.; Bond, J.; Mubaidin, A.; Wriekat, A. L.; Al-Din, A.; Woods, C. G.
In: Journal of Medical Genetics, Vol. 38, No. 10, 2001, p. 680-682.Research output: Contribution to journal › Article › peer-review
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T1 - Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
AU - Hampshire, D. J.
AU - Roberts, E.
AU - Crow, Y.
AU - Bond, J.
AU - Mubaidin, A.
AU - Wriekat, A. L.
AU - Al-Din, A.
AU - Woods, C. G.
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - Autozygosity mapping
KW - Chromosome 1p36
KW - Kufor-Rakeb syndrome
KW - Parkinson's disease
M3 - Article
VL - 38
SP - 680
EP - 682
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 1468-6244
IS - 10
ER -