Abstract
Progranulin (PGRN) is a multi-functional protein which acts to promote neuronal cell growth and to reduce inflammation in the brain. Granulin (GRN) mutations were first identified in frontotemporal dementia patients with ubiquitin-positive, tau-negative brain inclusions. However, GRN mutations and GRN polymorphisms (rs5848) have been found in neurodegenerative diseases other than FTD, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), corticobasal syndrome (CBS), and amyotrophic lateral sclerosis (ALS). Recent studies showed that phosphorylated TDP-43, tau and α-synuclein accumulation was present in the brains of patients with a GRN mutation. These results suggested that GRN mutations might cause multiple proteinopathies of which the mechanisms remain unknown.
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