Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
Copyright policy )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.
- University of Leeds United Kingdom
- University of Salford United Kingdom
- Leeds Teaching Hospitals NHS Trust United Kingdom
- St James's University Hospital United Kingdom
Male, Kufor-Rakeb syndrome, Parkinson's disease, Chromosome Mapping, Parkinson Disease, Syndrome, Chromosome 1p36, Autozygosity mapping, Pedigree, Paresis, Gene Frequency, Haplotypes, Chromosomes, Human, Pair 1, Endopeptidases, Humans, Dementia, Female, Ubiquitin-Specific Proteases, Lod Score, Microsatellite Repeats
Male, Kufor-Rakeb syndrome, Parkinson's disease, Chromosome Mapping, Parkinson Disease, Syndrome, Chromosome 1p36, Autozygosity mapping, Pedigree, Paresis, Gene Frequency, Haplotypes, Chromosomes, Human, Pair 1, Endopeptidases, Humans, Dementia, Female, Ubiquitin-Specific Proteases, Lod Score, Microsatellite Repeats
selected citations These citations are derived from selected sources.This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).128 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
Citations provided by BIP!Popularity provided by BIP!