• Jonathan D Rohrer, Ione O C Woollacott, Katrina M Dick, Emilie Brotherhood, Elizabeth Gordon, Alexander Fellows, Jamie Toombs, Ronald Druyeh, M Jorge Cardoso, Sebastien Ourselin, Jennifer M Nicholas, Niklas Norgren, Simon Mead, Ulf Andreasson, Kaj Blennow, Jonathan M Schott, Nick C Fox, Jason D Warren, and Henrik Zetterberg.
• From the Dementia Research Centre (J.D.R., I.O.C.W., K.M.D., E.B., E.G., A.F., M.J.C., S.O., J.M.N., J.M.S., N.C.F., J.D.W.), MRC Prion Unit (S.M., R.D.), Department of Neurodegenerative Disease, and Department of Molecular Neuroscience (J.T., H.Z.), UCL Institute of Neurology, Queen Square; Centre for Medical Image Computing (J.M.C., S.O.), University College London; Department of Medical Statistics (J.M.N.), London School of Hygiene and Tropical Medicine, UK; UmanDiagnostics (N.N.), Umeå; and Clinical Neurochemistry Laboratory (U.A., K.B., H.Z.), Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden. j.rohrer@ucl.ac.uk.
• Neurology. 2016 Sep 27; 87 (13): 1329-36.

ObjectiveTo investigate serum neurofilament light chain (NfL) concentrations in frontotemporal dementia (FTD) and to see whether they are associated with the severity of disease.MethodsSerum samples were collected from 74 participants (34 with behavioral variant FTD [bvFTD], 3 with FTD and motor neuron disease and 37 with primary progressive aphasia [PPA]) and 28 healthy controls. Twenty-four of the FTD participants carried a pathogenic mutation in C9orf72 (9), microtubule-associated protein tau (MAPT; 11), or progranulin (GRN; 4). Serum NfL concentrations were determined with the NF-Light kit transferred onto the single-molecule array platform and compared between FTD and healthy controls and between the FTD clinical and genetic subtypes. We also assessed the relationship between NfL concentrations and measures of cognition and brain volume.ResultsSerum NfL concentrations were higher in patients with FTD overall (mean 77.9 pg/mL [SD 51.3 pg/mL]) than controls (19.6 pg/mL [SD 8.2 pg/mL]; p < 0.001). Concentrations were also significantly higher in bvFTD (57.8 pg/mL [SD 33.1 pg/mL]) and both the semantic and nonfluent variants of PPA (95.9 and 82.5 pg/mL [SD 33.0 and 33.8 pg/mL], respectively) compared with controls and in semantic variant PPA compared with logopenic variant PPA. Concentrations were significantly higher than controls in both the C9orf72 and MAPT subgroups (79.2 and 40.5 pg/mL [SD 48.2 and 20.9 pg/mL], respectively) with a trend to a higher level in the GRN subgroup (138.5 pg/mL [SD 103.3 pg/mL). However, there was variability within all groups. Serum concentrations correlated particularly with frontal lobe atrophy rate (r = 0.53, p = 0.003).ConclusionsIncreased serum NfL concentrations are seen in FTD but show wide variability within each clinical and genetic group. Higher concentrations may reflect the intensity of the disease in FTD and are associated with more rapid atrophy of the frontal lobes.© 2016 American Academy of Neurology.

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