The diagnostic and prognostic role of biomarkers for amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive and devasting neurodegenerativedisorder characterized by degenerating upper and lower motor neurons in the brain andspinal cord. This doctoral dissertation aims to explore the presence of fluid and imagingbiomarkers associated with ALS, which may help support the clinical diagnosis and couldpotentially predict the disease course.In the current state of the literature, several biomarkers are proposed. However, none havehigh sensitivity and specificity to be used in clinical practice, and the diagnosis remainsclinically supported by the electromyographic examination.Identifying disease biomarkers is extremely important for diagnosing the disease in itsearliest stages, predicting prognosis, enrolling subjects in clinical trials, and monitoring thecourse and the pharmacological response in experimental studies.Our studies combined information derived from clinical features (motor, functional, andcognition), blood, cerebrospinal fluid, and structural and brain metabolism to improvediagnostic classification and predictive accuracy.Overall, our results confirm that the biomarkers assessment helps to classify and stratifyALS patients, highlighting signs of neurodegeneration by discovering altered diseasemechanisms and pathogenic processes.