title: Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.
abstract: Autosomal recessive ataxias represent genetic and clinical heterogeneity. Unsteady gait is often accompanied by poor coordination of limbs, speech, and eye movements. To date, seven genes have been identified. In addition, five chromosomal loci have been localized in non-related families. Here, we report homozygosity mapping of a novel locus to a 19.5-cM region on chromosome 20q11-q13 in a large inbred Norwegian family with infantile non-progressive ataxia.
authors.affiliation: Department of Audiology, Bispebjerg Hospital, Bispebjerg Bakke 23, DK-2400, Copenhagen NV, Denmark. lisbetht@fagmed.uit.no
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: Tanya M
authors.initials: TM
authors.lastname: Teslovich
authors.forename: MaryPat
authors.initials: M
authors.lastname: Jones
authors.forename: M Michael
authors.initials: MM
authors.lastname: Barmada
authors.forename: Toril
authors.initials: T
authors.lastname: Fagerheim
authors.forename: Arve
authors.initials: A
authors.lastname: Dahl
authors.forename: Diana M
authors.initials: DM
authors.lastname: Escolar
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Trent
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Gillanders
authors.forename: Dietrich A
authors.initials: DA
authors.lastname: Stephan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005456:Fluorescent Dyes; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009664:Norway; D010375:Pedigree
chemical_list: D005456:Fluorescent Dyes