title: A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
abstract: Hereditary spastic paraplegia is a genetically and phenotypically heterogeneous disorder. Both pure and complicated forms have been described, with autosomal dominant, autosomal recessive, and X-linked inheritance. Various loci (SPG1-SPG6) associated with this disorder have been mapped. Here, we report linkage analysis of a large consanguineous family affected with autosomal recessive spastic paraplegia with age at onset of 25-42 years. Linkage analysis of this family excluded all previously described spastic paraplegia loci. A genomewide linkage analysis showed evidence of linkage to chromosome 16q24.3, with markers D16S413 (maximum LOD score 3.37 at recombination fraction [theta] of .00) and D16S303 (maximum LOD score 3.74 at straight theta=.00). Multipoint analysis localized the disease gene in the most telomeric region, with a LOD score of 4.2. These data indicate the presence of a new locus linked to pure recessive spastic paraplegia, on chromosome 16q24.3, within a candidate region of 6 cM.
authors.affiliation: Department of Neurology, Federico II University, Naples, Italy.
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: M
authors.initials: M
authors.lastname: De Fusco
authors.forename: F
authors.initials: F
authors.lastname: Cavalcanti
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: R
authors.initials: R
authors.lastname: Marconi
authors.forename: G
authors.initials: G
authors.lastname: Volpe
authors.forename: A
authors.initials: A
authors.lastname: Monticelli
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: G
authors.initials: G
authors.lastname: Casari
authors.forename: S
authors.initials: S
authors.lastname: Cocozza
mesh_terms: D000328:Adult; D017668:Age of Onset; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008875:Middle Aged; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers