Tiamina en la enfermedad de Huntington

Abstract

Huntington's disease is a hereditary neurodegenerative disorder that affects the central nervous system (CNS), causing involuntary movements, cognitive decline, and emotional changes. It is caused by a genetic mutation that produces an abnormal repetition of the CAG trinucleotide in the HTT gene. Its genetic origin and neurological impact generate significant physical, emotional, cognitive, social, and economic challenges. This study analyzes the efficacy of thiamine as an adjunctive treatment in patients with Huntington's disease. According to the studies analyzed, individuals with functional defects in the SLC19A3 gene, also known as BTBGD, have reduced levels of thiamine in the cerebrospinal fluid (CSF), despite normal blood thiamine levels. Thiamine, a B1 vitamin, has been identified as a potential intervention to improve symptoms and slow disease progression. Studies have shown that thiamine contributes to the synthesis of neurotransmitters, is essential for proper brain function, and plays a vital role in cognition, memory, and emotional balance, highlighting its importance in the treatment of Huntington's disease as a therapeutic strategy.