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
Study Type
OBSERVATIONAL
Enrollment
200
Ospedale San Raffaele
Milan, MI, Italy
Ospedale San Luca
Milan, MI, Italy
RECRUITINGAOU Città della Salute e della Scienza
Torino, TO, Italy
RECRUITINGgenetic screening
no. of patients with ALS-associated mutations
Time frame: baseline (at diagnosis)
biomarker assessment
no. of patients with abnormal NfL, GFAP, tau, UCHL1, MCP1 and TDP-43 levels
Time frame: baseline (at diagnosis), at 6 months, at 1 year
clinical assessment
no. of patients with increasing vs decreasing PUMNS/LMNS scores
Time frame: baseline (at diagnosis), at 6 months, at 1 year
neuropsychological assessment
no. of patients with increasing vs decreasing ECAS scores
Time frame: baseline (at diagnosis), at 1 year
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