X-LINKED DYSTONIA-DEAFNESS SYNDROME

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 involvem ent. The pedigree suggests an X-linked inheritance. A similar family w as originally described by Scribanu and Kennedy. Tranebjaerg et al. ha ve recently reported two other families with linkage to Xq22 and also proposed a novel X-linked candidate gene. These findings support the e xistence of a distinct neurodegenerative syndrome principally characte rized by early-onset deafness and progressive dystonia. Neuropathology of one case showed a mosaic pattern of neuronal loss and gliosis in t he caudate and putamen suggesting that this pattern is not restricted to XDP or Lubag.