X-linked Dystonia-Deafness syndrome

Movement Disorders : Official Journal of the Movement Disorder Society
M W HayesJ G Morris

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.

References

Oct 1, 1992·Brain Pathology·T GasserX O Breakefield
Sep 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·M B GraeberU Müller
Feb 1, 1992·Journal of Medical Genetics·L JaberJ I Rotter
Jan 1, 1992·Movement Disorders : Official Journal of the Movement Disorder Society·W R GibbC D Marsden
Nov 1, 1990·Pediatric Neurology·M A NigroC P Lee
Jan 1, 1990·Movement Disorders : Official Journal of the Movement Disorder Society·D D TruongC D Marsden
May 1, 1988·American Journal of Medical Genetics·M W PartingtonG Turner
Sep 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·R L NussbaumD H Ledbetter
Dec 1, 1987·Clinical Genetics·F P CremersH H Ropers
Jun 1, 1983·Neurology·P H Altrocchi, L S Forno
Jul 15, 1994·American Journal of Medical Genetics·A GedeonJ Mulley
Jul 1, 1993·Movement Disorders : Official Journal of the Movement Disorder Society·C H WatersS Fahn
Sep 26, 1997·Movement Disorders : Official Journal of the Movement Disorder Society·S A Factor, K D Barron

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Citations

Apr 7, 2000·Movement Disorders : Official Journal of the Movement Disorder Society·C F Souza-LimaG M Manzano
Jul 12, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Ruth H WalkerMitchell F Brin
Jun 22, 2006·Neurotoxicity Research·M F BealT Archer
Sep 10, 2002·Parkinsonism & Related Disorders·Lillian V LeeMarita T Reyes
Feb 8, 2002·The New England Journal of Medicine·Patric Blomstedt
Sep 25, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Stefan H KreiselHansjörg Bäzner
Jun 28, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Ainhi D HaVictor S C Fung
Mar 26, 2002·Brain : a Journal of Neurology·Andrea H Németh
Apr 12, 2002·Movement Disorders : Official Journal of the Movement Disorder Society·Marwan I Hariz
Jan 8, 2018·Journal of Neurology·Roula Ghaoui, Carolyn M Sue

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