Abstract
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.
Original language | English (US) |
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Article number | 100607 |
Journal | Cell Reports Medicine |
Volume | 3 |
Issue number | 4 |
DOIs | |
State | Published - Apr 19 2022 |
Keywords
- Richardson's syndrome
- behavioral variant frontotemporal dementia
- biomarker
- corticobasal syndrome
- neurofilament light
- plasma
- presymptomatic
- primary progressive aphasia
- progressive supranuclear palsy
ASJC Scopus subject areas
- General Biochemistry, Genetics and Molecular Biology