Abstract：
Non-coding CGG repeat expansions within the 5\' untranslated region are implicated in a range of neurological disorders, including fragile X-associated tremor/ataxia syndrome, oculopharyngeal myopathy with leukodystrophy, and oculopharyngodistal myopathy. This review outlined the general characteristics of diseases associated with non-coding CGG repeat expansions, detailing their clinical manifestations and neuroimaging patterns, which often overlap and indicate shared pathophysiological traits. We summarized the underlying molecular mechanisms of these disorders, providing new insights into the roles that DNA, RNA, and toxic proteins play. Understanding these mechanisms is crucial for the development of targeted therapeutic strategies. These strategies include a range of approaches, such as antisense oligonucleotides, RNA interference, genomic DNA editing, small molecule interventions, and other treatments aimed at correcting the dysregulated processes inherent in these disorders. A deeper understanding of the shared mechanisms among non-coding CGG repeat expansion disorders may hold the potential to catalyze the development of innovative therapies, ultimately offering relief to individuals grappling with these debilitating neurological conditions.
摘要：
5'非翻译区内的非编码CGG重复扩增与一系列神经系统疾病有关，包括脆性X相关震颤/共济失调综合征，眼咽肌病伴白质营养不良，和眼咽远端肌病。这篇综述概述了与非编码CGG重复扩增相关的疾病的一般特征，详细说明他们的临床表现和神经影像学模式，通常重叠并表明共同的病理生理特征。我们总结了这些疾病的潜在分子机制，提供对DNA角色的新见解，RNA,和有毒蛋白质发挥作用。了解这些机制对于制定有针对性的治疗策略至关重要。这些策略包括一系列方法，如反义寡核苷酸，RNA干扰,基因组DNA编辑，小分子干预，以及其他旨在纠正这些疾病固有的失调过程的治疗方法。更深入地了解非编码CGG重复扩增障碍之间的共同机制，可能会促进创新疗法的发展。最终为患有这些使人衰弱的神经系统疾病的人提供救济。
