携带GRN基因突变致语义变异型原发性进行性失语患者1例:突触囊泡蛋白2A正电子发射体层摄影特点

Synaptic vesicle protein 2A positron emission tomography images of semantic variant primary progressive aphasia patient with GRN mutation:a case report

额颞叶痴呆(FTD)早期存在突触功能障碍等病理生理改变,不同基因型的FTD突触损伤模式存在差异。GRN基因突变在中国人群中较少见,目前尚未见关于GRN基因突变或语义变异型原发性进行性失语(svPPA)突触损伤模式的报道。文中报道了1例携带GRN基因突变的svPPA患者的突触损伤特征,表现为偏侧额、颞、顶叶及对侧小脑突触密度降低,提示突触功能障碍参与疾病发生过程,为未来的临床干预提供了潜在的靶点。

Synaptic dysfunction plays an important role in the early stage of frontotemporal dementia(FTD),and there are differences in the pattern of synaptic damage in different genotypes.GRN gene mutations are rare in the Chinese population,and there are no reports of synaptic damage patterns in GRN mutations or semantic variant primary progressive aphasia(svPPA).The synaptic injury characteristics of a patient with svPPA harboring GRN gene mutations,which was characterized by decreased synaptic density in the left frontal,temporal,parietal lobe and contralateral cerebellum were reported in this article.The underlying mechanism of synaptic dysfunction involved in the disease process,and potential targets for future clinical interventions were indicated.