Volume 13, Issue 2 p. 303-308
Article

X-linked dystonia-deafness syndrome

Michael W. Hayes FRACP

Michael W. Hayes FRACP

Department of Neurology, Westmead Hospital, Westmead, NSW

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Robert A. Ouvrier FRACP

Robert A. Ouvrier FRACP

Department of Neurology, New Children's Hospital, Westmead, NSW

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William Evans FRCPA

William Evans FRCPA

NSW Institute of Forensic Medicine, Glebe, NSW, Australia

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Ernest Somerville FRACP

Ernest Somerville FRACP

Department of Neurology, Westmead Hospital, Westmead, NSW

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Professor John G. L. Morris FRACP

Corresponding Author

Professor John G. L. Morris FRACP

Department of Neurology, Westmead Hospital, Westmead, NSW

Department of Neurology, Westmead Hospital, Westmead, NSW 2145, AustraliaSearch for more papers by this author
First published: 04 November 2004
Citations: 23

A videotape accompanies this article.

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.