Biomarkers in amyotrophic lateral sclerosis: a review of new developments

This review draws together the most recent findings in ALS biomarker research from biochemical, imaging and neurophysiology techniques.

The potential of circulating RNA is highlighted, including new retrieval techniques. With ongoing genetic clinical trials, the need for pharmacodynamic biomarkers is essential. There is a strong case for neurofilament proteins being validated in ALS; their biomarker profile is discussed. Oxidative stress and neuroinflammation studies offer insight into disease mechanisms and offer good biomarker potential. Recent metabolic studies include investigation of lipid profiles, creatinine and ferritin. The potential of chitinase proteins as pharmacodynamic and prognostic biomarkers is highlighted. The role of tau and amyloidβ is debated, as evidenced by the articles presented here. Proteomic approaches provide unbiased discoveries of novel biomarkers, together with confirmation of previous findings. The use of imaging techniques is outlined to demonstrate selective atrophy, volume loss, muscle and tract involvement. In-vivo imaging is discussed with reference to histone deacetylase, oxidative stress, neuroinflammation and metabolic changes. New applications of electrophysiology demonstrate objective muscle biomarkers and brain network perturbations.

The biomarker research field continues to provide insight into the disease. Multicentre collaborations are needed to validate these promising recent findings.