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July 16, 2013; 81 (3) Clinical/Scientific Notes

Expanding the clinical phenotype of DYT5 mutations: Is multiple system atrophy a possible one?

Roberto Ceravolo, Valentina Nicoletti, Barbara Garavaglia, Chiara Reale, Lorenzo Kiferle, Ubaldo Bonuccelli
First published June 14, 2013, DOI: https://doi.org/10.1212/WNL.0b013e31829bfd7c
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Autosomal dominantly inherited mutations in the GTP cyclohydrolase 1 (GCH1) gene are associated with dopamine-responsive dystonia (DRD), also known as DYT5.1 Rare atypical presentations have been described,2 including adulthood Parkinson disease (PD) with in vivo evidence of nigrostriatal degeneration.3

Footnotes

  • Study funding: No targeted funding reported.

  • Supplemental data at www.neurology.org

  • Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.

  • Received August 17, 2012.
  • Accepted in final form March 11, 2013.
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