title: Linkage studies of X-linked recessive spastic paraplegia using DNA probes.
abstract: A family with six males affected by X-linked spastic paraplegia (McKusick No. 31290) is described. The disease was accompanied by mental retardation in all patients (severe in four cases with IQ of 40) and by absence of extensor pollicis longus (in four cases). The following X chromosome DNA probes were used in linkage studies: 782, RC8, 99-6, 754, OTC, L128, pDP34, p43-15, DX13, and St14. The mutation is closely linked to the loci DX13 (DXS15) and St14 (DXS52) (no recombinants in 11 meioses) and therefore localised to the telomeric region of the long arm of the human X chromosome.
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
authors.forename: V
authors.initials: V
authors.lastname: Ionasescu
authors.forename: G
authors.initials: G
authors.lastname: Ionasescu
authors.forename: C
authors.initials: C
authors.lastname: Searby
authors.forename: A
authors.initials: A
authors.lastname: King
authors.forename: M
authors.initials: M
authors.lastname: Dubowitz
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005808:Genes, Recessive; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA