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CASE REPORT
Thiamine and dystonia 16
  1. Antonio Costantini1,
  2. Erika Trevi2,
  3. Maria Immacolata Pala1,
  4. Roberto Fancellu3
  1. 1Department of Neurology, Villa Immacolata, Viterbo, Italy
  2. 2Department of Neurological Rehabilitation, Villa Immacolata, Viterbo, Italy
  3. 3Unit of Neurology, IRCCS San Martino University Hospital, Genoa, Italy
  1. Correspondence to Dr Antonio Costantini, carapetata{at}libero.it

Summary

Primary torsion dystonia is a movement disorder characterised by sustained or intermittent involuntary muscle contractions causing abnormal movements, postures or both. In this study, 3 brothers affected by inherited primary dystonia 16 (DYT16) began an oral therapy with high-dose thiamine from November to December 2015. After 3 months, an important improvement of the motor symptoms was observed. Our results support the hypothesis that pathogenesis of the symptoms might be related to a dysfunction in mitochondrial oxidative phosphorylation due to a focal impairment of thiamine-dependent processes. Our results support some authors' hypothesis that dystonia might have a mitochondrial aetiology.

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