title: Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome.
abstract: We report on a family with X-linked mental retardation (XLMR) and severe spastic paraplegia. Appearance is normal but there is severe involvement of the lower limbs (affected relatives never walked), with minimal involvement of the upper limbs and unusual MRI findings including macrogyria, white matter hypoplasia, lack of myelination and a markedly increased paramagnetic signal suggestive of iron deposition. Linkage studies documented possible linkage, with no recombination, between the disease locus and DXS424. A 7-point linkage analysis yielded a maximum LOD score of 1.9, (theta = 0.00) for three loci spanning Xq22-q25. The combination of the unusual clinical and MRI findings and the tentative localization to a region different than other XLMR syndromes with spastic paraplegia, provide good evidence that this is a new XLMR syndrome.
authors.affiliation: University of Miami School of Medicine, Department of Pediatrics, Florida 33101.
authors.forename: J F
authors.initials: JF
authors.lastname: Arena
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
authors.forename: R
authors.initials: R
authors.lastname: Stevenson
authors.forename: L
authors.initials: L
authors.lastname: Lawrence
authors.forename: A
authors.initials: A
authors.lastname: Carpenter
authors.forename: R
authors.initials: R
authors.lastname: Duara
authors.forename: D
authors.initials: D
authors.lastname: Ledbetter
authors.forename: T
authors.initials: T
authors.lastname: Huang
authors.forename: T
authors.initials: T
authors.lastname: Lehner
authors.forename: J
authors.initials: J
authors.lastname: Ott
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000378:metabolism*; D001921:Brain / Q000002:abnormalities; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007501:Iron / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D004247:DNA; D007501:Iron