Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Hum Genet. 2003 Aug;113(3):293-5. doi: 10.1007/s00439-003-0967-8. Epub 2003 Jun 17.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Ataxia / genetics*
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 20 / genetics*
  • Consanguinity
  • Female
  • Fluorescent Dyes
  • Genes, Recessive*
  • Homozygote
  • Humans
  • Lod Score*
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Norway
  • Pedigree


  • Fluorescent Dyes