Thiamine and spinocerebellar ataxia type 2

Abstract

Spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. Some observations indicate that high doses of thiamine may lead to the partial regression of the symptoms. One patient was under rehabilitative treatment from June 2011 to July 2012. We assessed the level of fatigue using the Fatigue Severity Scale. We performed the Scale for Assessment and Rating of Ataxia and Robertson Profile for Dysarthria (Italian version). Thiamine and thiamine pyrophosphate levels in the blood were within the healthy reference range. We started a parenteral therapy with 100 mg intramuscular every 7 days. The therapy led to a partial regression of fatigue within a few days. After about 3 months, a discreet improvement of motor symptoms especially in speech was observed. The symptoms could derive from a focal thiamine deficiency that could determine a selective neuronal loss.

High-dose thiamine improves the symptoms of fibromyalgia

“…Fatigue in Spinocerebellar ataxia type 2 and in inflammatory bowel diseases can be treated with large doses of thiamine 6 14…”

Thiamine Therapy for Dystonia Type 1

“…This result suggests that the abnormalities in thiamine-dependent processes could be overcome by a diffusion-mediated transport at supra-normal thiamine concentrations. The presence of symptoms due to a thiamine deficiency in patients with normal concentrations of plasmatic thiamine could be explained if referred to a form of thiamine deficiency due to enzymatic abnormalities or to dysfunction of the circulation of thiamine in the intracellular space [4,6,9,11].…”

“…Recent studies implicate thiamine in oxidative stress, protein processing, peroxisomal function, and gene expression [4,5]. Defects of energetic metabolism have been implicated in a variety of neurodegenerative diseases [6]. Some authors found that high-dose thiamine improves the symptoms of Dystonia16 and sporadic primary dystonia [7,8].…”

High-dose thiamine improves the symptoms of Friedreich's ataxia

“…In this patient, fatigue as well as motor symptoms improved after parenteral high doses of thiamine 3. Therefore, we formulated the hypothesis that the pathogenesis of some degenerative diseases of the nervous system is linked to a dysfunction of the intracellular transport of thiamine or to structural enzymatic abnormalities responsive to high doses of thiamine.…”