A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS

الملخص EN

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a relatively common cause of balance problems leading to gait disturbances in older males (40%) with the premutation.

FXTAS is less common in females.

We utilized the CATSYS system, a quantitative measure of movement, in 23 women with FXTAS (mean age 62.7; SD 12.3), 90 women with the premutation without FXTAS (mean age 52.9; SD 9.4), and 37 controls (mean age 56.53; SD 7.8).

CATSYS distinguished differences between carriers with and without FXTAS in postural tremor, postural sway, hand coordination, and reaction time tasks.

Differences were also seen between carriers without FXTAS and controls in finger tapping, reaction time, and one postural sway task.

However, these differences did not persist after statistical correction for multiple comparisons.

Notably, there were no differences across groups in intention tremor.

This is likely due to the milder symptoms in females compared to males with FXTAS.