Publications by authors named "Roger Puey"
Alzheimers Res Ther
March 2024
Article Synopsis
- Pathogenic heterozygous mutations in the GRN gene are a significant cause of frontotemporal dementia (FTD), leading to lower levels of the progranulin protein in biofluids, which has sparked therapeutic trials aimed at increasing these levels.
- A systematic review of literature on biofluid PGRN concentrations included data from 7071 individuals, primarily focusing on plasma PGRN levels derived from a single assay type, which accounted for variations based on mutation type, age, sex, and clinical diagnosis.
- Key findings established specific concentration cut-offs for plasma (74.8 ng/mL) and CSF (3.43 ng/mL) and indicated that plasma PGRN levels vary by mutation type,
