Neurofilament light chain: a biomarker for genetic frontotemporal dementia.
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Meeter Lieke H, Dopper Elise G, Jiskoot Lize C, Sanchez-Valle Raquel, Graff Caroline, Benussi Luisa, Ghidoni Roberta, Pijnenburg Yolande A, Borroni Barbara, Galimberti Daniela, Laforce Robert Jr, Masellis Mario, Vandenberghe Rik, Ber Isabelle Le, Otto Markus, van Minkelen Rick, Papma Janne M, Rombouts Serge A, Balasa Mircea, Öijerstedt Linn, Jelic Vesna, Dick Katrina M, Cash David M, Harding Sophie R, Jorge Cardoso M, Ourselin Sebastien, Rossor Martin N, Padovani Alessandro, Scarpini Elio, Fenoglio Chiara, Tartaglia Maria C, Lamari Foudil, Barro Christian, Kuhle Jens, Rohrer Jonathan D, Teunissen Charlotte E, van Swieten John C
Аннотация
METHODS: In this multicenter case-control study, we investigated CSF NfL in 174 subjects (48 controls, 40 presymptomatic carriers and 86 patients with microtubule-associated protein tau (MAPT), progranulin (GRN), and chromosome 9 open reading frame 72 (C9orf72) mutations), and serum NfL in 118 subjects (39 controls, 44 presymptomatic carriers, 35 patients). In 55 subjects both CSF and serum was determined. In two subjects CSF was available before and after symptom onset (converters). Additionally, NfL levels were correlated with clinical parameters, survival, and regional brain atrophy.
RESULTS: CSF NfL levels in patients (median 6762 pg/mL, interquartile range 3186-9309 pg/mL) were strongly elevated compared with presymptomatic carriers (804 pg/mL, 627-1173 pg/mL, P < 0.001), resulting in a good diagnostic performance to discriminate both groups. Serum NfL correlated highly with CSF NfL (r s = 0.87, P < 0.001) and was similarly elevated in patients. Longitudinal samples in the converters showed a three- to fourfold increase in CSF NfL after disease onset. Additionally, NfL levels in patients correlated with disease severity, brain atrophy, annualized brain atrophy rate and survival.
INTERPRETATION: NfL in both serum and CSF has the potential to serve as a biomarker for clinical disease onset and has a prognostic value in genetic FTD.