Molecular Mechanisms Leading to FXTAS Development and Therapeutic Perspectives

By Candice Vieira, Biochemistry and Molecular Biology, ’17

Author’s Note:

After researching Fragile X-associated tremor/ataxia syndrome (FXTAS) treatment methods for a UWP 104F assignment, I learned that current FXTAS therapeutics is limited to symptomatic treatment. Most articles emphasized the need to better characterize the molecular mechanisms underlying FXTAS development to develop drugs specifically for FXTAS. Therefore, I questioned what researchers currently know regarding molecular events that lead to FXTAS signs and symptoms and how this knowledge can aid in drug therapies. This motivated me to prepare a literary review, intended to educate and inform practicing clinicians, especially neurologists and psychologists, about recent findings and the future directions for FXTAS research. For this assignment, we were expected to synthesize recent articles and provide relevant information for clinical practice. Specifically, I wanted clinicians to gain a better understanding of a primary focus within FXTAS research—molecular triggering events—and importantly, how this research relates to clinical treatment of FXTAS.