Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q

Nat Genet. 1993 Dec;5(4):386-91. doi: 10.1038/ng1293-386.


Dopa-responsive dystonia (DRD) is an autosomal-dominant neurological disorder which appears to result from a genetically determined deficiency of striatal dopamine. Pathological evidence suggests that this may be due to the establishment of a reduced number of dopaminergic nerve terminals in the striatum, or to an excessive reduction (pruning) of these terminals in early development. We have mapped the DRD gene to chromosome 14 by linkage analysis in 3 families with a maximum 2-point lod score of 4.67 at 8.6 centiMorgans from D14S63; maximum multipoint lod scores > 6 were obtained for the intervals D14S47-D14S52 and D14S52-D14S63. The flanking loci D14S47 and D14S63 define a region of about 22 cM as containing the DRD gene.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • Dihydroxyphenylalanine / deficiency*
  • Dystonia / genetics*
  • Dystonia / pathology
  • Family
  • Female
  • Genetic Linkage
  • Genotype
  • Humans
  • Lod Score*
  • Male
  • Pedigree


  • Dihydroxyphenylalanine