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Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia

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Abstract

Complex regional pain syndrome type 1 (CRPS-1) is a chronic pain disorder that in some patients is associated with fixed dystonia. The pathogenesis of CRPS and its relation to dystonia remain poorly understood. Several genes (so-called DYT genes) identified in other causes of dystonia play a role in mechanisms that have been implicated in CRPS. Because different mutations in the same gene can result in diverse phenotypes, we sequenced all coding exons of the DYT1, DYT5a, DYT5b, DYT6, DYT11, DYT12, and DYT16 genes in 44 CRPS patients with fixed dystonia to investigate whether high-penetrant causal mutations play a role in CRPS. No such mutations were identified, indicating that these genes do not seem to play a major role in CRPS.

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Acknowledgments

This study is part of Trauma RElated Neuronal Dysfunction (TREND), a Dutch Consortium that integrates research on epidemiology, assessment technology, pharmacotherapeutics, biomarkers and genetics on Complex Regional Pain Syndrome type 1. The consortium aims to develop concepts on disease mechanisms that occur in response to tissue injury, its assessment and treatment. TREND is supported by a government grant (BSIK03016).

Conflict of interest statement

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Human Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, The Netherlands

    M. Florencia Gosso, Elisenda Alsina-Sanchis, Jessica T. Kamphorst & Arn M. J. M. van den Maagdenberg

  2. Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands

    Annetje M. de Rooij, Johan Marinus, Jacobus J. van Hilten & Arn M. J. M. van den Maagdenberg

Authors
  1. M. Florencia Gosso
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  2. Annetje M. de Rooij
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  3. Elisenda Alsina-Sanchis
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  4. Jessica T. Kamphorst
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  5. Johan Marinus
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  6. Jacobus J. van Hilten
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  7. Arn M. J. M. van den Maagdenberg
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Correspondence to M. Florencia Gosso.

Additional information

M. F. Gosso and A. M. de Rooij contributed equally to this work.

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Gosso, M.F., de Rooij, A.M., Alsina-Sanchis, E. et al. Systematic mutation analysis of seven dystonia genes in complex regional pain syndrome with fixed dystonia. J Neurol 257, 820–824 (2010). https://doi.org/10.1007/s00415-009-5426-6

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  • DOI: https://doi.org/10.1007/s00415-009-5426-6

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