Accuracy of blood-based neurofilament light to different genetic frontotemporal dementia from primary psychiatric disorders.
Liu E., Jones SL., Light V., Teunissen C., Bouzigues A., Russell LL., Foster PH., Ferry-Bolder E., van Swieten JC., Jiskoot LC., Seelaar H., Sanchez-Valle R., Laforce R., Graff C., Galimberti D., Vandenberghe R., de Mendonça A., Tiraboschi P., Santana I., Gerhard A., Levin J., Sorbi S., Otto M., Butler CR., Ber IL., Finger E., Tartaglia MC., Masellis M., Rowe JB., Synofzik M., Moreno F., Borroni B., Zetterberg H., Rohrer JD., Ducharme S., Genetic Frontotemporal Dementia Initiative (GENFI) and Banque Signature (BbS) None.
BackgroundGenetic frontotemporal dementia (FTD) along with Alzheimer's disease (AD), is one of the most prevalent early-onset dementias. The differential diagnosis of FTD from primary psychiatric disorder (PPD) has been challenging due to significant symptom overlap, particular as FTD often presents with prolonged psychiatric prodromes.ObjectiveThis study aims to evaluate whether blood-based neurofilament light chain (NfL) can differentiate genetic FTD from PPD, and to determine a global clinical cutoff to differentiate genetic FTD carriers from PPD with high specificity and sensitivity.MethodsData (ages 40-81) were obtained from FTD mutation carriers (GENFI; n = 474; n = 120 C9orf72, n = 114 GRN, n = 50 MAPT, n = 190 controls), and PPD (Biobanque Signature; n = 848). Blood-based NfL was measured with SIMOA HD-X (BbS) and SIMOA HD-1 (GENFI).ResultsBlood-based NfL was higher in all symptomatic mutations compared to PPD. Mildly symptomatic (0