Spinal muscular atrophy (SMA) is an autosomal disease caused by deletion or mutation(s) of thesurvival motor neuron 1 (SMN1) gene. A highly homologous gene, SMN2, is present in all patients but yields low levels of the full-length SMN protein.
The human brain represents only 2% of the body weight but it utilizes around 20% of total body glucose. This shows how crucial glucose metabolism is for the proper functioning of neurons and other cell types in the brain.
Intracerebral hemorrhage (ICH) accounts for about 15% of all strokes and has the highest mortality rates among strokes with up to 50% within 30 days after the insult. It is known to increase intracranial pressure and is associated with excitotoxicity, oxidative stress, and inflammation.
Thiamine (vitamin B1) deficiency (TD) produces a mild, chronic impairment of oxidative metabolism that models the diminished metabolism and reduced activities of the thiamine-dependent mitochondrial enzymes that occur in brain in several common age-related neurodegenerative disorders.
Because strategies that promote acute neuroprotection have not successfully translated into clinical practice, studies to understand repair/recovery mechanisms that promote functional recovery have emerged.