ArticleScientific reports2025
Swallowing and choking difficulties as potential markers of FXTAS progression in FMR1 premutation carriers.
Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) affects motor and coordination pathways and is linked to swallowing and choking difficulties, which can lead to aspiration pneumonia, a leading cause of death in late-stage FXTAS. Despite their severity, these issues are under-investigated. This study examined their association with FXTAS stages and potential as markers of disease progression in FMR1 premutation (PM) carriers. A secondary analysis of Genotype-Phenotype cohort data (2017-2025, MIND Institute, UC Davis) examined swallowing/choking problems, FXTAS stage, neuroimaging, and psychological distress (Symptom Checklist-90-Revised; SCL-90-R). Associations between independent and dependent variables were tested using Generalized Estimating Equation (GEE) regression due to their correlated data. The study included 169 PM carriers (mean age 65 ± 10.9 years; 54% male), with approximately 35% reporting swallowing/choking difficulties. After adjusting for age and sex, individuals in the severe stage of FXTAS (stage 4-5) had a significantly higher risk of swallowing/choking problems compared to those without FXTAS (adjusted odds ratio [aOR] = 4.17; 95%CI = 1.28-13.58). PM carriers with swallowing/choking problems showed a significantly increased association with magnetic resonance imaging (MRI) findings of moderate to severe abnormalities in several brain regions, including cerebral atrophy (aOR = 2.69, p = 0.027), cerebellar atrophy (aOR = 3.34, p = 0.013), cerebellar white matter hyperintensity (aOR = 3.33, p = 0.012), and pons white matter hyperintensity (aOR = 3.93, p = 0.035). Swallowing/choking problems are common in FXTAS, particularly in later stages, and may represent an important clinical marker of disease progression. These patients should be referred to speech-language pathologists for evaluation and treatment. Such interventions could reduce morbidity-mortality associated with these problems.
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