TY - JOUR
T1 - Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders
AU - ALLFTD consortium
AU - Gendron, Tania F.
AU - Heckman, Michael G.
AU - White, Launia J.
AU - Veire, Austin M.
AU - Pedraza, Otto
AU - Burch, Alexander R.
AU - Bozoki, Andrea C.
AU - Dickerson, Bradford C.
AU - Domoto-Reilly, Kimiko
AU - Foroud, Tatiana
AU - Forsberg, Leah K.
AU - Galasko, Douglas R.
AU - Ghoshal, Nupur
AU - Graff-Radford, Neill R.
AU - Grossman, Murray
AU - Heuer, Hilary W.
AU - Huey, Edward D.
AU - Hsiung, Ging Yuek R.
AU - Irwin, David J.
AU - Kaufer, Daniel I.
AU - Leger, Gabriel C.
AU - Litvan, Irene
AU - Masdeu, Joseph C.
AU - Mendez, Mario F.
AU - Onyike, Chiadi U.
AU - Pascual, Belen
AU - Ritter, Aaron
AU - Roberson, Erik D.
AU - Rojas, Julio C.
AU - Tartaglia, Maria Carmela
AU - Wszolek, Zbigniew K.
AU - Rosen, Howard
AU - Boeve, Bradley F.
AU - Boxer, Adam L.
AU - Appleby, Brian S.
AU - Barmada, Sami
AU - Bordelon, Yvette
AU - Botha, Hugo
AU - Brushaber, Danielle
AU - Clark, David
AU - Coppola, Giovanni
AU - Darby, Ryan
AU - Devick, Katrina
AU - Dickson, Dennis
AU - Faber, Kelley
AU - Fagan, Anne
AU - Fields, Julie A.
AU - Gavrilova, Ralitza
AU - Geschwind, Daniel
AU - Goldman, Jill
AU - Graff-Radford, Jonathon
AU - Grant, Ian
AU - Jones, David T.
AU - Kantarci, Kejal
AU - Kerwin, Diana
AU - Knopman, David S.
AU - Kornak, John
AU - Kremers, Walter
AU - Lapid, Maria
AU - Lago, Argentina Lario
AU - Ljubenkov, Peter
AU - Lucente, Diane
AU - Mackenzie, Ian R.
AU - McGinnis, Scott
AU - Mester, Carly
AU - Miller, Bruce L.
AU - Pressman, Peter
AU - Rademakers, Rosa
AU - Ramanan, Vijay K.
AU - Ramos, E. Marisa
AU - Rankin, Katherine P.
AU - Rao, Meghana
AU - Rascovsky, Katya
AU - Savica, Rodolfo
AU - Seeley, William
AU - Staffaroni, Adam M.
AU - Syrjanen, Jeremy
AU - Taylor, Jack
AU - VandeVrede, Lawren
AU - Weintraub, Sandra
AU - Wong, Bonnie
AU - Petrucelli, Leonard
N1 - Publisher Copyright:
© 2022 The Author(s)
PY - 2022/4/19
Y1 - 2022/4/19
N2 - Frontotemporal dementia (FTD) therapy development is hamstrung by a lack of susceptibility, diagnostic, and prognostic biomarkers. Blood neurofilament light (NfL) shows promise as a biomarker, but studies have largely focused only on core FTD syndromes, often grouping patients with different diagnoses. To expedite the clinical translation of NfL, we avail ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study resources and conduct a comprehensive investigation of plasma NfL across FTD syndromes and in presymptomatic FTD mutation carriers. We find plasma NfL is elevated in all studied syndromes, including mild cases; increases in presymptomatic mutation carriers prior to phenoconversion; and associates with indicators of disease severity. By facilitating the identification of individuals at risk of phenoconversion, and the early diagnosis of FTD, plasma NfL can aid in participant selection for prevention or early treatment trials. Moreover, its prognostic utility would improve patient care, clinical trial efficiency, and treatment outcome estimations.
AB - Frontotemporal dementia (FTD) therapy development is hamstrung by a lack of susceptibility, diagnostic, and prognostic biomarkers. Blood neurofilament light (NfL) shows promise as a biomarker, but studies have largely focused only on core FTD syndromes, often grouping patients with different diagnoses. To expedite the clinical translation of NfL, we avail ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study resources and conduct a comprehensive investigation of plasma NfL across FTD syndromes and in presymptomatic FTD mutation carriers. We find plasma NfL is elevated in all studied syndromes, including mild cases; increases in presymptomatic mutation carriers prior to phenoconversion; and associates with indicators of disease severity. By facilitating the identification of individuals at risk of phenoconversion, and the early diagnosis of FTD, plasma NfL can aid in participant selection for prevention or early treatment trials. Moreover, its prognostic utility would improve patient care, clinical trial efficiency, and treatment outcome estimations.
KW - Richardson's syndrome
KW - behavioral variant frontotemporal dementia
KW - biomarker
KW - corticobasal syndrome
KW - neurofilament light
KW - plasma
KW - presymptomatic
KW - primary progressive aphasia
KW - progressive supranuclear palsy
UR - http://www.scopus.com/inward/record.url?scp=85128399381&partnerID=8YFLogxK
U2 - 10.1016/j.xcrm.2022.100607
DO - 10.1016/j.xcrm.2022.100607
M3 - Article
C2 - 35492244
AN - SCOPUS:85128399381
SN - 2666-3791
VL - 3
JO - Cell Reports Medicine
JF - Cell Reports Medicine
IS - 4
M1 - 100607
ER -