中国医学前沿杂志（电子版）2026，Vol.18Issue(2)：1-10,10.DOI:10.12037/YXQY.2026.02-01
polyG疾病的临床与基础研究进展
Clinical and basic research advances in polyG diseases
摘要
Abstract
Polyglycine(polyG)diseases are a group of dynamic mutation disorders caused by CGG repeat expansion.Their core pathogenic mechanism involves repeat associated nonAUG translation of CGG repeats,resulting in the production of toxic polyG proteins.The disease spectrum includes fragile X-associated tremor/ataxia syndrome,neuronal intranuclear inclusion disease,oculopharyngodistal myopathy,oculopharyngeal myopathy with leukoencephalopathy,and spinocerebellar ataxia type 4.In recent years,with the increasing application and maturation of longread sequencing technologies,the causative genes underlying polyG diseases have been continuously identified,leading to a clearer understanding of their clinical and pathological features.This review systematically summarizes the clinical manifestations,pathological characteristics,genetic discoveries,and molecular pathogenic mechanisms of polyG diseases,and provides an outlook on future therapeutic strategies.关键词
聚甘氨酸疾病/CGG重复扩增/聚甘氨酸蛋白/动态突变疾病Key words
Polyglycine diseases/CGG repeat expansion/Polyglycine proteins/Dynamic mutation diseases引用本文复制引用
高超,邓健文..polyG疾病的临床与基础研究进展[J].中国医学前沿杂志（电子版）,2026,18(2):1-10,10.基金项目
National Natural Science Foundation of China(82422025) 国家自然科学基金项目(82422025) （82422025）
