Hampshire, D.J., Roberts, E., Crow, Y. et al. (5 more authors) (2001) Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. Journal of Medical Genetics, 38 (10). pp. 680-682. ISSN 0022-2593
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. (J Med Genet 2001;38:680–682)
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | Copyright © 2001 by Journal of Medical Genetics. |
Keywords: | Kufor-Rakeb syndrome; autozygosity mapping; Parkinson’s disease; chromosome 1p36 |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Genetics (Leeds) |
Depositing User: | Sherpa Assistant |
Date Deposited: | 13 Mar 2006 |
Last Modified: | 27 Oct 2016 13:22 |
Published Version: | http://jmg.bmjjournals.com/cgi/content/full/38/10/... |
Status: | Published |
Refereed: | Yes |
Identification Number: | 10.1136/jmg.38.10.680 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:250 |