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 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.
Hayes
M W
MW
Department of Neurology, Westmead Hospital, NSW, Australia.
Ouvrier
R A
RA
Evans
W
W
Somerville
E
E
Morris
J G
JG
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