Synaptic vesicle protein 2A positron emission tomography images of semantic variant primary progressive aphasia patient with GRN mutation: a case report
10.3760/cma.j.cn113694-20231209-00370
- VernacularTitle: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
- Author:
Ailing YUE
1
;
Min CHU
;
Shuying LIU
;
Piu CHAN
;
Liyong WU
Author Information
1. 首都医科大学宣武医院神经内科，北京100053
- Keywords:
Frontotemporal dementia;
Aphasia, primary progressive;
Synaptophysin;
Positron-emission tomography;
GRN gene
- From:
Chinese Journal of Neurology
2024;57(4):383-386
- CountryChina
- Language:Chinese
-
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.
