Thiamine and dystonia 16
A summary of the web page.
Dr Antonio Costantini
Accepted 8 July 2016
Published 22 July 2016
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.
Magnesium is a cofactor to transketolase and its administration to patients with TD being treated with thiamine demonstrated a positive effect on erythrocyte transketolase activity. Six decreased activities of thiamine-dependent enzymes have also been reported in neurodegenerative disease independent of patient malnutrition.
As the patients did not want to start an intramuscular therapy, we used 500 mg thiamine and 100 mg magnesium (oxide, succinate, citrate, malate) tablets. The patients began an oral therapy with the two tablets, one each in the morning and at lunch time (2000 mg of thiamine daily+400 mg dimagnesium) right after the evaluation of symptoms and history of the disease (November–December 2015).
Patient 3
Patient 3 was a 36-year-old male. The first dystonic symptoms appeared at the age of 3 years at the upper limbs and the trunk. Later the disturbances progressed to the other body regions, especially to the trunk and the limbs.
Neurological examination: generalised dystonia with prevalent gait and handwriting disturbance (the patient could not hold a pen with his hand), bradicinesia.
DMS: 69 points DDS 14 points.
Thiamine plasmatic level: 67 µg/L (n.v. 28–85).
The patients were re-evaluated with neurological examination and Fahn-Marsden dystonia scales after 90 days of treatment (table 1).
Outcome and follow-up:
After 90 days from the beginning of the therapy, we examined the patients and repeated the same tests.
The patients noticed a partial improvement of the symptoms as summarised below:
Pz 1 DMS 33 p. (improvement 40%) DDS: 6 p. (improvement 40%)
He had a nearly total regression of the swallowing disturbances.
Pz 2 DMS 61 p (improvement 23.7%) DDS: 10 p (improvement 33.3%)
He had a global improvement of all dystonic movements (video 3: patient 2 after therapy).
Pz 3 DMS 49 p. (improvement 28.9%) DDS: 10 p (improvement 28.6%)
He succeeds in writing, even if with some difficulties, and he walks much better (table 1).
Discussion
The patients had a favourable response to thiamine. The oral therapy with high-dose thiamine was effective in reversing the motor failure, suggesting that the abnormalities in thiamine-dependent processes could be overcome by a diffusion-mediated transport at supranormal thiamine concentrations. The presence of symptoms due to a TD in patients with normal concentrations of plasmatic thiamine could be explained if referred to defects of intracellular thiamine transport, activation and the attachment of the active cofactor to target enzymes
Furthermore, in the presence of TD the response to therapy is considered diagnostic.12
Thiamine responsive deficiency has been reported in other inborn errors of metabolism that lead to neurological diseases.13 Genetic disorders of thiamine metabolism that lead to neurological disease can be treated with high-dose thiamine.13–15 Recently, some authors achieved good results in sporadic degenerative diseases too (Parkinson's disease) with the same treatment. Note: See referenced authors at web site. Thiamine and dystonia 16.html
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