A videotape accompanies this article.
X-linked dystonia-deafness syndrome†
Article first published online: 4 NOV 2004
Copyright © 1998 Movement Disorder Society
Volume 13, Issue 2, pages 303–308, March 1998
How to Cite
Hayes, M. W., Ouvrier, R. A., Evans, W., Somerville, E. and Morris, J. G. L. (1998), X-linked dystonia-deafness syndrome. Mov. Disord., 13: 303–308. doi: 10.1002/mds.870130217
- Issue published online: 4 NOV 2004
- Article first published online: 4 NOV 2004
- Manuscript Accepted: 7 SEP 1997
- Manuscript Revised: 3 SEP 1997
- Manuscript Received: 11 SEP 1995
- Mosaic pattern of gliosis
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.