The Amyotrophic Lateral Sclerosis rating scale revised (ALSFRS-R) was used in two studies [40,41], showing disease progression in one but not the other, and was shown to correlate with serum and CSF neurofilament heavy chain [40,41], though one paper included patients with ALS in their analysis (Supplementary Material S2). The gene discussed is NEFH; the disease is lateral sclerosis.