polyG疾病的临床与基础研究进展OA

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.