title: A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
abstract: Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causing HSP and performed a genomewide search. We found evidence for linkage of the disorder to polymorphic markers on chromosome 2q24-q34: a maximum LOD score of 3. 03 was obtained for marker D2S2318. By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the upper limbs, and with severe functional handicaps.
authors.affiliation: INSERM CJF9711, Faculté de Médecine Pitié-Salpêtrière, 105 boulevard de l'hôpital, 75013 Paris, France. fontaine@infobiogen.fr
authors.forename: B
authors.initials: B
authors.lastname: Fontaine
authors.forename: C S
authors.initials: CS
authors.lastname: Davoine
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: C
authors.initials: C
authors.lastname: Paternotte
authors.forename: I
authors.initials: I
authors.lastname: Feki
authors.forename: J
authors.initials: J
authors.lastname: Weissenbach
authors.forename: J
authors.initials: J
authors.lastname: Hazan
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D000483:Alleles; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D005602:France / Q000208:ethnology; D005799:Genes, Dominant / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010264:Paraplegia / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics