title: Evidence of a third locus in X-linked recessive spastic paraplegia.
abstract: We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia.
authors.forename: R
authors.initials: R
authors.lastname: Steinmüller
authors.forename: A
authors.initials: A
authors.lastname: Lantigua-Cruz
authors.forename: R
authors.initials: R
authors.lastname: Garcia-Garcia
authors.forename: M
authors.initials: M
authors.lastname: Kostrzewa
authors.forename: D
authors.initials: D
authors.lastname: Steinberger
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C078341:MYT1 protein, human; D014157:Transcription Factors