A Huntington disease-like neurodegenerative disorder maps to chromosome 20p

Am J Hum Genet. 1998 Nov;63(5):1431-8. doi: 10.1086/302093.


Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations. The disease is associated with a CAG trinucleotide-repeat expansion in the Huntington gene (IT15) on chromosome 4p16.3. One family with a history of HD was referred to us initially for predictive testing using linkage analysis. However, the chromosome 4p region was completely excluded by polymorphic markers, and later no CAG-repeat expansion in the HD gene was detected. To map the disease trait segregating in this family, whole-genome screening with highly polymorphic dinucleotide-, trinucleotide-, and tetranucleotide-repeat DNA markers was performed. A positive LOD score of 3.01 was obtained for the marker D20S482 on chromosome 20p, by two-point LOD-score analysis with the MLINK program. Haplotype analysis indicated that the gene responsible for the disease is likely located in a 2.7-cM region between the markers D20S193 and D20S895. Candidate genes from the mapping region were screened for mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Atrophy
  • Brain / pathology
  • Chromosome Mapping
  • Chromosomes, Human, Pair 20*
  • Chromosomes, Human, Pair 4
  • Female
  • Genetic Markers
  • Genotype
  • Humans
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / pathology
  • Pedigree
  • Sweden
  • Trinucleotide Repeats*


  • Genetic Markers