Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion.

ABSTRACT:

Objective

To evaluate neurofilament light (NfL) as a biomarker of the presymptomatic phase of amyotrophic lateral sclerosis (ALS).

Methods

The study population includes 84 individuals at risk for developing ALS, 34 controls, 17 ALS patients, and 10 phenoconverters (at-risk individuals observed both before and after the emergence of clinically manifest disease). At-risk individuals are enrolled through Pre-Symptomatic Familial ALS (Pre-fALS), a longitudinal natural history and biomarker study of individuals who are carriers of any ALS-associated gene mutation (in SOD1, C9orf72, TARDBP, FUS, VCP, etc), but who, at the time of enrollment, demonstrated no clinical symptoms or signs (including electromyographic evidence) of manifest disease. NfL in serum and cerebrospinal fluid (

SUBMITTER: Benatar M 

PROVIDER: S-EPMC11348288 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature