title: A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.
abstract: The authors performed a clinical and genetic study of a large consanguineous English family with uncomplicated autosomal recessive hereditary spastic paraplegia (ARHSP). Linkage to the previously described SPG5A locus was established with maximum multipoint lod score of 4.84. The locus was refined to a 23.6 cM interval between markers D8S1833 and D8S285. No evidence of oxidative phosphorylation defects was found in muscle biopsies from two affected individuals.
authors.affiliation: Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.
authors.forename: P A
authors.initials: PA
authors.lastname: Wilkinson
authors.forename: A H
authors.initials: AH
authors.lastname: Crosby
authors.forename: C
authors.initials: C
authors.lastname: Turner
authors.forename: H
authors.initials: H
authors.lastname: Patel
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: A H
authors.initials: AH
authors.lastname: Schapira
authors.forename: T T
authors.initials: TT
authors.lastname: Warner
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003241:Consanguinity; D003576:Electron Transport Complex IV / Q000032:analysis; D004739:England; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000032:analysis
chemical_list: D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV