Objective: To determine if citicoline was safe and effective for treatment of tremor and balance abnormalities and stabilization of cognitive decline in patients with FXTAS.

Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder that is characterized by tremor, cerebellar ataxia, frequent falls, cognitive decline, and progressive loss of motor function. There are currently no approved treatments for this disorder.

Methods: Ten participants with diagnosed FXTAS were administered 1000 mg of citicoline once daily for 12 months. Outcome measures and neurological examination were performed at baseline, 3 months, 6 months, and 12 months. The primary outcome was safety. Secondary outcomes included change in FXTAS Rating Scale score, a battery of neuropsychological tests, an instrumented Timed up and go test, computerized dynamic posturography, 9-hole pegboard test, and balance confidence and psychiatric symptom questionnaires.

Results: Citicoline treatment resulted in minimal adverse events in all but one subject over the course of the study. There was a significant improvement in the Beck Anxiety Inventory (p = 0.03) and the Stroop Color-Word test (p = 0.03), and a significant worsening of stride length variability (p = 0.03), with all other measures remaining stable over the course of 12 months.

Conclusions: This open-label pilot trial of citicoline for individuals with FXTAS showed that it is safe and well tolerated in this population. Preliminary data also suggests that it may be effective in stabilizing progression or improving some signs of the disease.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/open-label-pilot-trial-of-citicoline-for-fragile-x-associated-tremor-ataxia-syndrome-fxtas/