title: A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
abstract: A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Nicoletti
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Anna Lia
authors.initials: AL
authors.lastname: Gabriele
authors.forename: Francesca Luisa
authors.initials: FL
authors.lastname: Conforti
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Manuela
authors.initials: M
authors.lastname: Caracciolo
authors.forename: Giorgio
authors.initials: G
authors.lastname: Casari
authors.forename: Bonaventura
authors.initials: B
authors.lastname: Ardito
authors.forename: Marcello
authors.initials: M
authors.lastname: Lastilla
authors.forename: Antonio
authors.initials: A
authors.lastname: Gambardella
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology
chemical_list: D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins