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X-linked dystonia-deafness syndrome

✍ Scribed by Michael W. Hayes; Robert A. Ouvrier; William Evans; Ernest Somerville; Professor John G. L. Morris

Book ID
102949240
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
729 KB
Volume
13
Category
Article
ISSN
0885-3185

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✦ Synopsis

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.

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## Abstract Lubag is an x‐linked recessive dystonia parkinsonism that affects Filipino men originating principally from the Panay Island. Linkage analysis has confirmed the mode of inheritance and localized the disease gene to the proximal long arm of the x‐chromosome. We studied the brain of a 34