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GRN loss-of-function mutations cause neuronal ceroid lipofuscinosis or frontotemporal dementia GRN (FTD-GRN), depending on the gene dose.
Rhinn et al. 2022 Trends in Pharmacological Sciences 43(8): 641
Mutations that decrease PGRN levels increase the risk of developing Alzheimer's, Parkinson's, and limbic-predominant age-related transactivation reaction DNA-binding protein 43 encephalopathy and exacerbate the progression of amyotrophic lateral sclerosis (ALS) and FTD mediated by the hexanucleotide repeat Extension in the C9orf72 gene.
Rhinn et al. 2022 Trends in Pharmacological Sciences 43(8): 641…