Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference.

ABSTRACT: The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by the premutation (55-200 CGG repeats) in the fragile X messenger ribonucleoprotein-1 (FMR1) gene. An open question is: In what sequential order do FXTAS symptoms typically appear, and how does that sequence vary among patients and between males and females? We applied the ordinal-outcomes version of the Subtype and Stage Inference algorithm ('Ordinal SuStaIn') to identify the sequential events of clinical and brain MRI changes in cross-sectional data collected during baseline visits from a longitudinal cohort of FXTAS patients at Stages 0-5. We included 28 neurodegenerative symptoms collected from 253 premutation carriers (101 females and 152 males) and 44 controls (7 females and 37 male

SUBMITTER: Morrison DE 

PROVIDER: S-EPMC12776014 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature