Objective: Determine the rate of progression of motor signs in fragile X-associated tremor/ataxia syndrome (FXTAS) over a one-year follow-up.

Background: Limited information exists regarding the clinical progression of individuals with FXTAS, making it challenging to conduct thorough follow-ups. Nonetheless, a tailored rating scale designed for this cohort can facilitate the assessment of treatment efficacy across various disease stages over the long term.

Method: Longitudinal data from 24 FXTAS patients was collected by the same neurologist specializing in FXTAS between March 2022 and March 2024, comprising sex, disease duration, CGG repeats, age at baseline, at diagnosis, and age at first complaints. Motor signs, assessed using the FXTAS-Rating Scale¹ (FXTAS-RS) version 2.0, included eye movement, bradykinesia, speech, tremor, walking/balance, and dystonia. FXTAS-RS sub-scores and total scores were analyzed using descriptive (mean (x̄), standard deviation (SD), and range) and non-parametric longitudinal statistical analyses (paired two-sided Wilcoxon signed-rank test).

Results: At baseline, 15 (62.5%) were women aged from 50.0 to 85.0 years (x̄=70.9, SD=8.9), and CGG repeat size ranged from 58 to 180 (x̄=92.9, SD=32.0). Their age at first disease complaints ranged from 20.0 to 74.0 years (x̄=92.3, SD=32.0), and the disease duration ranged from 0.0 to 37.0 years (x̄=8.0, SD=8.2). The patients’ initial complaints were tremors (70.8%) and balance (25%). After a follow-up between 286.0 to 546.0 days (x̄=373.1, SD=70.3), 15 patients (62.5%) showed a non-significant worsening of 1 to 13 points (x̄=-1.124, p=0.271) in FXTAS-RS total score. Despite the lack of statistical significance, the sub-score analysis unveiled variations in disease progression. Specifically, dystonia (87.5%), speech (62.5%), and eye movement (45.8%) remained stable, while walking/balance (62.5%), tremors (54.2%) worsened, and bradykinesia (54.2%) improved.

Conclusion: This study reveals an average deterioration of one point in the FXTAS-RS total score, accompanied by sub-score variations. While the initial patient complaints worsened (walking/balance and tremor), other signs either improved or remained stable. This study contributes to understanding the disease’s natural course and highlights the need for larger cohort assessments.

References: Tosin MHS, Stebbins GT, Goetz CG, Hagerman RJ, Hessl D, Zolecki MA, Todd PK, Leehey MA, Hall DA. Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach. Front Neurol. 2022;13:977380. doi: 10.3389/fneur.2022.977380.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/longitudinal-analysis-of-fragile-x-associated-tremor-ataxia-syndrome-progression-a-one-year-follow-up-of-24-patients/