Article
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort.
Journal of medical genetics - 21 May 2024
Liu Caiyan, Dong Liling, Wang Jie, Li Jie, Huang Xinying, Lei Dan, Mao Chenhui, Chu Shanshan, Sha Longze, Xu Qi, Peng Bin, Cui Liying, Gao Jing
Abstract excerpt
BACKGROUND: METHODS: The GRN mutations, especially of the loss of function type, are causative of frontotemporal dementia (FTD). However, several GRN variants can be found in other neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease. So far, there have been over 300 GRN mutations reported globally. However, the genetic spectrum and phenotypic characteristics have not been fully...
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