Recent advances and opportunities for improving diagnosis of amyotrophic lateral sclerosis

Abstract

ABSTRACTIntroduction: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of upper and lower motor neurons causing progressive weakness, and in nearly all cases, death. The diagnosis of ALS is currently limited to physical exam and electrodiagnostic testing, with use of diagnostic testing to exclude ALS mimics. There is growing interest in developing improved biomarkers to make an earlier and more accurate diagnosis of ALS, for use in clinical practice and for recruitment into trials. A number of promising biomarkers have been recently described, including imaging modalities, blood and CSF biomarkers, genetic testing, and electrodiagnostic techniques.Areas covered: This review describes the current diagnostic criteria for ALS and emerging biomarkers showing promise in the diagnosis and tracking of disease progression in ALS. Types of biomarkers and testing modalities reviewed include genetic, electrodiagnostic, imaging, and blood and CSF markers.Expert opinion: ALS currently remains a clinical diagnosis, but many emerging testing modalities and biomarkers show promise in ALS diagnosis and tracking disease progression. Some of the most promising biomarkers include genetic testing, volume based MRI modalities, and serum and CSF light chain neurofilament. The greatest challenge to ALS diagnostic testing is the broad pathogenic heterogeneity underlying a common clinical phenotype.