Publications by authors named "Alba Gomez-Nunez"
Background: Autosomal dominant Alzheimer's Disease (ADAD) represents around 0.5% of all AD cases, and is caused by mutations in PSEN1, PSEN2 and APP genes. Gene expression studies can be useful for unravelling the physiopathology of AD and identifying potential biomarkers.
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- 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,