title: Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
abstract: Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.
authors.affiliation: Service de Neurologie, Hôpital Tenon, Paris, France.
authors.forename: O
authors.initials: O
authors.lastname: Heinzlef
authors.forename: C
authors.initials: C
authors.lastname: Paternotte
authors.forename: F
authors.initials: F
authors.lastname: Mahieux
authors.forename: J F
authors.initials: JF
authors.lastname: Prud'homme
authors.forename: J
authors.initials: J
authors.lastname: Dien
authors.forename: M
authors.initials: M
authors.lastname: Madigand
authors.forename: J
authors.initials: J
authors.lastname: Pouget
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: E
authors.initials: E
authors.lastname: Roullet
authors.forename: J
authors.initials: J
authors.lastname: Hazan
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004247:DNA / Q000737:chemistry; D003704:Dementia / Q000150:complications / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D004827:Epilepsy / Q000150:complications / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D008569:Memory Disorders / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D001405:Reflex, Babinski; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics*; D014549:Urinary Incontinence
chemical_list: D004247:DNA