title: X-linked Dystonia-Deafness syndrome.
abstract: 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.
authors.affiliation: Department of Neurology, Westmead Hospital, NSW, Australia.
authors.forename: M W
authors.initials: MW
authors.lastname: Hayes
authors.forename: R A
authors.initials: RA
authors.lastname: Ouvrier
authors.forename: W
authors.initials: W
authors.lastname: Evans
authors.forename: E
authors.initials: E
authors.lastname: Somerville
authors.forename: J G
authors.initials: JG
authors.lastname: Morris
mesh_terms: D000328:Adult; D002421:Caudate Nucleus / Q000473:pathology; D003638:Deafness / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005911:Gliosis / Q000235:genetics; D006801:Humans; D008297:Male; D009030:Mosaicism; D019636:Neurodegenerative Diseases / Q000235:genetics*; D009474:Neurons / Q000473:pathology; D010302:Parkinson Disease, Secondary / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011699:Putamen / Q000473:pathology; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome