Homogenates of brain tissue from the frontal cortex at autopsy in patients with
amyotrophic lateral sclerosis (ALS) showed dramatically reduced levels of the
enzyme thiamine pyrophosphatase (
TPPase), the
enzyme responsible for the conversion of
thiamine pyrophosphate (TPP) to
thiamine monophosphate (
TMP). Additionally, free
thiamine (
vitamin B1) and
TMP levels have been shown to be significantly reduced in the plasma and cerebral spinal fluid (CSF) of patients with ALS. These findings suggest that there is impaired
thiamine metabolism in patients with ALS. Impaired
thiamine metabolism decreases
adenosine triphosphate (
ATP) production and is a well-established cause of neurodegeneration. Decreased levels of
TPPase, resulting in decreased levels of
TMP in the cells of the frontal cortex, might account for the focal neurodegenerative changes observed in motor neurons in ALS.
Benfotiamine, a safe,
lipid-soluble, highly absorbable
thiamine analogue, significantly raises free
thiamine,
TMP, and TPP levels in the blood. A case in which
benfotiamine may have positively impacted the symptoms of a patient with ALS is presented. The use of
benfotiamine in patients with ALS appears to be a promising therapeutic option. Considering the severity and the lack of satisfactory treatment options associated with this disease, more research on the effects of
benfotiamine on the course of ALS is urgently needed.