Treatment of primary adult-onset neurodegenerative cerebellar ataxias

成人原发性神经退行性小脑共济失调的治疗

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Abstract

Primary adult-onset neurodegenerative cerebellar ataxias (PANCA) are a clinically and genetically diverse group of disorders for which disease-modifying therapies remain limited. In this review, we provide a comprehensive analysis of therapeutic strategies for PANCA, with a primary focus on clinical trials-randomized controlled and open-label-that have evaluated pharmacological agents, rehabilitation programs, and neuromodulatory interventions. Where clinical trial data are lacking, we incorporate relevant observational studies, expert consensus, and mechanistic rationale to contextualize current practices. Rehabilitation and multidisciplinary care remain foundational across all subtypes and are supported by growing clinical trial evidence. Pharmacological approaches, including omaveloxolone for Friedreich's ataxia and off-label agents such as riluzole, 4-aminopyridine, and varenicline, demonstrate subtype-specific benefits. Neuromodulation techniques, such as transcranial direct current stimulation and repetitive transcranial magnetic stimulation, have shown early promise in improving motor outcomes. In parallel, molecular and gene-based therapies-including antisense oligonucleotides, viral vector delivery systems, and CRISPR-based strategies-are advancing into preclinical and early-phase clinical studies. This evolving therapeutic landscape underscores a shift toward personalized, multimodal care for cerebellar ataxias and highlights the need for continued translational efforts to bridge mechanistic insights with clinical impact.

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