Blood diagnostic and prognostic biomarkers in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration and death of motor neurons. Currently, diagnosis relies on clinical assessments, but specific biomarkers are lacking, hindering early detection and prognosis. This review focuses on recent advances in blood biomarkers for ALS. The review discusses several blood-based biomarkers, including neurofilaments, glial fibrillary acidic protein (GFAP), TAR DNA-binding protein 43 (TDP-43), creatinine, and creatine kinase. These biomarkers offer varying degrees of diagnostic and prognostic value, reflecting different aspects of the disease pathology. While no single biomarker is definitive, the review suggests that serum neurofilament light chain (NFL) holds promise as a diagnostic and prognostic marker. Further research is needed to improve the specificity and clinical utility of these biomarkers for ALS management.

• 1
  Neurofilament light chain (NFL) in serum is a promising diagnostic and prognostic biomarker for ALS, exhibiting high specificity and sensitivity, and responding to treatment.
• 2
  Glial fibrillary acidic protein (GFAP) mainly reflects neuronal demyelination and is linked to non-motor symptoms such as cognitive impairment.
• 3
  TAR DNA-binding protein 43 (TDP-43) shows great promise as a biomarker, particularly with advancements in exosome-related research, though current detection methods are limited.