title: A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
abstract: Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region. Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902.
authors.affiliation: Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
authors.forename: E
authors.initials: E
authors.lastname: Reid
authors.forename: A M
authors.initials: AM
authors.lastname: Dearlove
authors.forename: O
authors.initials: O
authors.lastname: Osborn
authors.forename: M T
authors.initials: MT
authors.lastname: Rogers
authors.forename: D C
authors.initials: DC
authors.lastname: Rubinsztein
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D018740:Genetic Heterogeneity; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010264:Paraplegia / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance