ALZHEIMER’S & DEMENTIA: DIAGNOSIS, ASSESSMENT & DISEASE MONITORING | NOVEMBER 05, 2019

Forgrave LM, Ma M, Best JR and DeMarco ML

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring.DOI: https://doi.org/10.1016/j.dadm.2019.08.009

ABSTRACT

INTRODUCTION

A systematic review and meta-analysis was performed regarding the diagnostic performance of neurofilament light chain (NfL) in CSF and blood.

METHODS

A database search was conducted for NfL biomarker studies in the context of Alzheimer’s disease (AD), frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS) compared with controls (i.e., cognitively unimpaired, mild cognitive impairment, or disease mimics).

RESULTS

In groups with a sufficient number of studies, the performance of NfL in blood and CSF was similar. Compared with disease mimics, we observed that CSF NfL had strong discriminatory power for ALS, modest discriminatory power for FTD, and no discriminatory power for AD. NfL provided the greatest separation between ALS and cognitively unimpaired controls in both the blood and CSF, followed by FTD (CSF and blood), then AD (blood and CSF).

DISCUSSION

Comparable performance of CSF and blood NfL in many groups demonstrates the promise of NfL as a noninvasive biomarker of neurodegeneration; however, its utility in clinically meaningful scenarios requires greater scrutiny. Toward clinical implementation, a more comprehensive understanding of NfL concentrations in disease subtypes with overlapping phenotypes and at defined stages of disease, and the development of a harmonization program, are warranted.