Synaptic vesicle protein 2A positron emission tomography images of semantic variant primary progressive aphasia patient with GRN mutation: a case report / 中华神经科杂志

ABSTRACT

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.