Literature DB >> 12883919

An unusual family with multiple movement disorders.

Mark Edwards1, Noemi Russo, Beatrice Summers, Jenny Morton, Deirdre Peake, Kailash Bhatia.   

Abstract

Multiple movement disorders presenting in the same family are rare. We present an unusual family where generalized dystonia, Huntington's disease, progressive supranuclear palsy and secondary paroxysmal dyskinesia co-exist. The index case presented with young-onset dystonia and tested negative for the DYT1 gene deletion. Her father was similarly affected. The father's brother (paternal uncle of the index) also had abnormal movements-a mixture of chorea and dystonia-and tested positive for the HD expansion. His son had secondary paroxysmal dyskinesia, and tested negative for the HD expansion. The index case and her father were also negative for the HD expansion. A paternal aunt of two of the cases had a clinical diagnosis of progressive supranuclear palsy. Dystonia is known to be a genetically heterogeneous condition. The co-existence of inherited generalized dystonia with other movement disorders may provide clues to its genetic localization.

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Year:  2003        PMID: 12883919     DOI: 10.1007/s00415-003-1078-0

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  1 in total

1.  THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Authors:  H Houlden; S A Schneider; R Paudel; A Melchers; P Schwingenschuh; M Edwards; J Hardy; K P Bhatia
Journal:  Neurology       Date:  2010-03-09       Impact factor: 9.910

  1 in total

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