New publication – Schofield E. et al
Title: Low serum progranulin predicts the presence of mutations: a prospective study
Authors: Schofield, E., Halliday, G., Kwok, J., Loy, C., Hodges, J.R.
Journal: Journal of Alzheimer’s Disease
Abstract:
Serum progranulin is decreased in frontotemporal dementia (FTD) patients with progranulin gene (PGRN) mutations. We investigate the utility of prospective serum screening as a surrogate diagnostic marker for progranulin mutations. A commercial ELISA was used to measure progranulin protein concentration in serum from 63 FTD patients and 32 normal controls, and DNA screening then performed. Four patients (2/17 behavioural variant, 2/8 corticobasal syndrome) had abnormally low progranulin levels with PGRN mutations confirmed on DNA testing. Surprisingly, elevated levels were found in 6/16 patients with progressive non-fluent aphasia, the significance of which is unclear. Serum testing is an accurate and cost effective means of predicting PGRN mutations.
