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Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72...

Wilson, Katherine M.; Katona, Eszter; Glaria, Idoia; Carcolé, Mireia; Swift, Imogen J.; Sogorb-Esteve, Aitana; Heller, Carolin; Bouzigues, Arabella

Objective: A GGGGCC repeat expansion in the C9orf72 gene is the most common cause of genetic frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). As potential therapies targeting the repeat expansion are now entering clinical trials, sensitive biomarker assays of target engagement are urgently required. Our objective was to develop such an assay. Methods: We used the single molecule array (Sim...


Plasma glial fibrillary acidic protein is raised in progranulin-associated fron...

Heller, Carolin; Foiani, Martha S.; Moore, Katrina; Convery, Rhian; Bocchetta, Martina; Neason, Mollie; Cash, David M.; Thomas, David

Background: There are few validated fluid biomarkers in frontotemporal dementia (FTD). Glial fibrillary acidic protein (GFAP) is a measure of astrogliosis, a known pathological process of FTD, but has yet to be explored as potential biomarker. Methods: Plasma GFAP and neurofilament light chain (NfL) concentration were measured in 469 individuals enrolled in the Genetic FTD Initiative: 114 C9orf72 expansion carr...


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