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

Abstract

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.

• Authors: D J Hampshire, E Roberts, Y Crow, J Bond, A Mubaidin, A L Wriekat, A Al-Din, C G Woods
• Journal: Journal of medical genetics (J Med Genet) Vol. 38 Issue 10 Pg. 680-2 (Oct 2001) ISSN: 1468-6244 [Electronic] England
• PMID: 11584046 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Endopeptidases
• Ubiquitin-Specific Proteases

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 1 (genetics)
• Dementia (complications, genetics, pathology)
• Endopeptidases (genetics)
• Female
• Gene Frequency (genetics)
• Haplotypes (genetics)
• Humans
• Lod Score
• Male
• Microsatellite Repeats (genetics)
• Paresis (complications, genetics, pathology)
• Parkinson Disease (complications, genetics, pathology)
• Pedigree
• Syndrome
• Ubiquitin-Specific Proteases