title: Exclusion of the candidate locus FSP1 in six families with late-onset autosomal dominant spastic paraplegia.
abstract: Hereditary spastic paraplegias are neurological hereditary conditions of unknown aetiology. In pure spastic paraplegia, most of the pedigrees display an autosomal dominant mode of inheritance. A gene for pure autosomal dominant spastic paraplegia (ADSP), termed FSP1, was mapped to chromosome 14q in a large pedigree with early-onset disease. This locus was tested by linkage analysis in six large French kindreds of ADSP with late-onset disease, using four microsatellites spanning a 9 cM interval including FSP1. FSP1 could be excluded in five of the six families, while no evidence for linkage was found in the remaining family. These results suggest that FSP1 is not involved in late onset ADSP, at least in the six families studied.
authors.affiliation: INSERM U134, Hôpital de la Salpêtriére, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
authors.forename: C S
authors.initials: CS
authors.lastname: Rime
authors.forename: J
authors.initials: J
authors.lastname: Hazan
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: C
authors.initials: C
authors.lastname: Penet
authors.forename: J
authors.initials: J
authors.lastname: Reboul
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: O
authors.initials: O
authors.lastname: Lyon-Caen
authors.forename: N
authors.initials: N
authors.lastname: Baumann
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005190:Family; D005260:Female; D005602:France; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010264:Paraplegia / Q000209:etiology / Q000235:genetics*; D010375:Pedigree