Onset age variability in GRN-associated frontotemporal lobar degeneration: a high-throughput assay to identify functional onset age modifying variants. University of Antwerp
Frontotemporal lobar degeneration (FTLD) is the most common cause of neurodegenerative dementia at young age after Alzheimer's disease. Loss-of-function (LOF) mutations in the granulin gene (GRN) are a major cause of FTLD, accounting for up to 11.2% of patients. Most GRN mutation carriers present clinically with frontotemporal dementia (FTD), but clinical phenotypes are diverse and also include Alzheimer's dementia and Parkinson's disease in ...