X-linked Dystonia-Deafness syndrome

Mov Disord. 1998 Mar;13(2):303-8. doi: 10.1002/mds.870130217.


We report a family with early-onset deafness and progressive dystonia exclusively involving males over two successive generations. There is also evidence of cognitive impairment and corticospinal tract involvement. The pedigree suggests an X-linked inheritance. A similar family was originally described by Scribanu and Kennedy. Tranebjaerg et al. have recently reported two other families with linkage to Xq22 and also proposed a novel X-linked candidate gene. These findings support the existence of a distinct neurodegenerative syndrome principally characterized by early-onset deafness and progressive dystonia. Neuropathology of one case showed a mosaic pattern of neuronal loss and gliosis in the caudate and putamen suggesting that this pattern is not restricted to XDP or Lubag.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Caudate Nucleus / pathology
  • Deafness / genetics*
  • Dystonia / genetics*
  • Gliosis / genetics
  • Humans
  • Male
  • Mosaicism
  • Neurodegenerative Diseases / genetics*
  • Neurons / pathology
  • Parkinson Disease, Secondary / genetics
  • Parkinson Disease, Secondary / pathology
  • Pedigree
  • Putamen / pathology
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*