title: Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.
abstract: The hereditary spastic paraplegias are a clinically variable and genetically heterogeneous group of disorders characterized by progressive and lower limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling autosomal dominant form of the disease in which there is associated wasting of the hand muscles. In view of the fact that genes for hereditary spastic paraplegia can produce highly variable phenotypes, the eight known autosomal dominant loci were investigated for linkage to Silver syndrome. Genotyping of these loci in two large multigenerational families was incompatible with linkage to any of these regions, suggesting that an additional locus is responsible for this syndrome.
authors.affiliation: Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.
authors.forename: H
authors.initials: H
authors.lastname: Patel
authors.forename: P E
authors.initials: PE
authors.lastname: Hart
authors.forename: T
authors.initials: T
authors.lastname: Warner
authors.forename: I
authors.initials: I
authors.lastname: Allen
authors.forename: H E
authors.initials: HE
authors.lastname: Phillimore
authors.forename: J R
authors.initials: JR
authors.lastname: Silver
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: S
authors.initials: S
authors.lastname: Jeffery
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
authors.forename: A H
authors.initials: AH
authors.lastname: Crosby
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D015894:Genome, Human; D006225:Hand; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D013577:Syndrome