BMJ case reports, 2016-07, Vol.2016, p.bcr-2016-216721
2016
Details
- Autor(en) / Beteiligte
- Titel
- Thiamine and dystonia 16
- Ist Teil von
- BMJ case reports, 2016-07, Vol.2016, p.bcr-2016-216721
- Ort / Verlag
- England: BMJ Publishing Group LTD
- Erscheinungsjahr
- 2016
- Link zum Volltext
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1757-790XeISSN: 1757-790XDOI: 10.1136/bcr-2016-216721Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4964157
- Format
- –
- Schlagworte
- Adult, Disease, Dystonia, Dystonic Disorders - drug therapy, Europe (West), Gait, Humans, Kinases, Male, Mutation, NMR, Nuclear magnetic resonance, Patients, Proteins, Rare Disease, Siblings, Thiamine - therapeutic use, Treatment Outcome, Vitamin B, Vitamin B Complex - therapeutic use, White