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X‐linked dystonia‐deafness syndrome
Author(s) -
Hayes Michael W.,
Ouvrier Robert A.,
Evans William,
Somerville Ernest,
Morris John G. L.
Publication year - 1998
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.870130217
Subject(s) - dystonia , neuropathology , putamen , corticospinal tract , gliosis , neuroscience , pyramidal tracts , medicine , psychology , pathology , disease , magnetic resonance imaging , diffusion mri , radiology
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.