title: Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
abstract: Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.
authors.affiliation: Unité de Génétique Moléculaire Humaine, CNRS URA 1445, Institut Pasteur, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Hazan
authors.forename: C
authors.initials: C
authors.lastname: Lamy
authors.forename: J
authors.initials: J
authors.lastname: Melki
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: de Recondo
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D017931:DNA Primers; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
chemical_list: D017931:DNA Primers