当前位置: X-MOL 学术Mov. Disord. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
GRN Mutations Are Associated with Lewy Body Dementia
Movement Disorders ( IF 7.4 ) Pub Date : 2022-07-10 , DOI: 10.1002/mds.29144
Paolo Reho 1 , Shunsuke Koga 2 , Zalak Shah 1 , Ruth Chia 3 , , , Rosa Rademakers 2, 4 , Clifton L Dalgard 5, 6 , Bradley F Boeve 7 , Thomas G Beach 8 , Dennis W Dickson 2 , Owen A Ross 2, 9 , Sonja W Scholz 1, 10
Affiliation  

Loss-of-function mutations in GRN are a cause of familial frontotemporal dementia, and common variants within the gene have been associated with an increased risk of developing Alzheimer's disease and Parkinson's disease. Although TDP-43-positive inclusions are characteristic of GRN-related neurodegeneration, Lewy body copathology has also been observed in many GRN mutation carriers.

中文翻译:


GRN 突变与路易体痴呆有关



GRN的功能丧失突变是家族性额颞叶痴呆的一个原因,该基因内的常见变异与患阿尔茨海默病和帕金森病的风险增加有关。尽管 TDP-43 阳性包涵体是GRN相关神经变性的特征,但在许多GRN突变携带者中也观察到了路易体病理学。
更新日期:2022-07-10
down
wechat
bug