title: New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.
abstract: We have updated the clinical description of a large Scottish pedigree, in which patients were affected by spastic paraplegia complicated by hearing impairment and persistent vomiting due to hiatal hernia inherited as an autosomal dominant trait. Using a genome-wide mapping approach, we identified a novel locus (SPG29) for this form of hereditary spastic paraplegia on chromosome 1p31.1-21.1 and narrowed it to 22.3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7), involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations.
authors.affiliation: Laboratorio di Neurogenetica, Centro Europeo Di Ricerca Sul Cervello-Istituto di Ricovero e cura a Carattere Scientifico Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Gaudiello
authors.forename: Peter H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: Roberto
authors.initials: R
authors.lastname: Floris
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bernardi
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D030541:Databases, Genetic / Q000706:statistics & numerical data; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology; D033921:Vesicular Transport Proteins / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D033921:Vesicular Transport Proteins