Read the new مطالعه کنید highlighting the possibility of formulating new diagnostic criteria, biomarkers and interview checklists/assessment scales specifically catered to females living with Fragile-X-associated tremor/ataxia syndrome (FXTAS). 

While FXTAS is a progressive neurodegenerative disorder associated with the FMR1 gene premutation in both males and females, researchers have found its presentation and progression varies in women. Females falling under this category have less motor symptoms compared to their male counterparts, and have more frequently occurring neuropsychiatric symptoms, which FraXI notes are listed under FXPAC as conditions which premutation carriers may have more frequently than the general population. 

This new study observed ten women with the FMR1 gene premutation who had a  FXTAS diagnosis. Some of the women in the sample size did not have tremors or ataxia while some had a subclinical presentation of mild tremors or balance problems or only intermittent symptoms. Therefore, they did not meet the full FXTAS criteria which is catered to symptoms prevalent in men. The authors therefore propose the diagnosis of preFXTAS instead of FXTAS for these women as they are at high risk of developing full FXTAS in time. Treatments that help stall the onset of FXTAS may include discontinuing alcohol, doing daily exercise, using antioxidants that are supplements to their diet and avoiding other toxins in their environment. 

The authors contend that a preFXTAS diagnosis may also be beneficial to males who do not have tremors of ataxia, and are therefore not diagnosed with FXTAS. In both genders, changes to the brain are evident and part of the diagnosis of FXTAS and pre-FXTAS.