Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Dissezione Fenotipica Guidata da Biomarcatori Della Sclerosi Laterale Amiotrofica/Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

The goal of this observational study is to understand the clinical variability in a population of ALS patients using multidimensional biomarkers. The main questions it aims to answer are:

• Which set of biomarkers explain genotypic-phenotypic correlations in ALS?
• Which set of biomarkers can be used to subdivide the ALS population in homogeneous subgroups?

Participants will undergo:

• neurological evaluation
• neurophysiological evaluation
• neuropsychological evaluation
• whole exome sequencing
• biomarker measurement in CSF and plasma

Inclusion Criteria:

• diagnosis of ALS or other motor neuron disease
• residence near the study centers

Exclusion Criteria:

• refusal to participate to the study
• unable/unwilling to perform follow-up visits