title: Thiamine and dystonia 16.
abstract: 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.
authors.affiliation: Department of Neurology, Villa Immacolata, Viterbo, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Costantini
authors.affiliation: Department of Neurological Rehabilitation, Villa Immacolata, Viterbo, Italy.
authors.forename: Erika
authors.initials: E
authors.lastname: Trevi
authors.affiliation: Department of Neurology, Villa Immacolata, Viterbo, Italy.
authors.forename: Maria Immacolata
authors.initials: MI
authors.lastname: Pala
authors.affiliation: Unit of Neurology, IRCCS San Martino University Hospital, Genoa, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Fancellu
mesh_terms: D000328:Adult; D020821:Dystonic Disorders / Q000188:drug therapy*; D006801:Humans; D008297:Male; D035781:Siblings; D013831:Thiamine / Q000627:therapeutic use*; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000627:therapeutic use*
chemical_list: D014803:Vitamin B Complex; D013831:Thiamine