Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome |
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Authors: | Judith C. T. van Deutekom Richard P. M. Bruyn Nicolle van den Boom Lodewijk A. Sandkuijl George W. Padberg Rune R. Frants |
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Affiliation: | (1) MGC-Department of Human Genetics, Leiden University, Leiden, The Netherlands;(2) Department of Neurology, Leiden University, Leiden, The Netherlands;(3) Department of Neurology, Oudenrijn Hospital, Utrecht, The Netherlands;(4) Present address: Department of Neurology, University of Nijmegen, Nijmegen, The Netherlands;(5) MGC-Department of Human Genetics, Sylvius Laboratory, Leiden University, Wassenaarseweg 72, 2333 Leiden, AL, The Netherlands |
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Abstract: | Pure hereditary spastic paraparesis (HSP) is an upper motor neuron syndrome clinically characterized by slowly progressive weakness and spasticity of the legs. To determine the chromosomal location of the genetic defect, a five-generational Dutch family with autosomal dominant pure HSP was subjected to linkage studies. Analysis was carried out on 48 members spanning three generations, of whom 23 individuals are definitely affected. By screening the genome with a total of 167 microsatellite markers distributed over all autosomes, an exclusion map for HSP was constructed. Depending on the actual size of the human genome, our exclusion map covered between 40% and 65% of its autosomal length. Loci on chromosomes 1, 8, 13, 14, and 18 showed slightly positive lod scores. The areas around these loci were investigated more closely, but no conclusive evidence for, or against, linkage could be obtained. |
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