The first study that investigated blood-based biomarkers of CNS impairment in DM1 was performed by Saak et al., who assessed serum NfL by SiMoA in 62 patients with primary myopathies with known CNS involvement, 13 patients affected by myopathies without CNS impairment, and 8 patients with facioscapulohumeral dystrophy (FSHD) [33]. This evidence concerns the gene NEFL and Facioscapulohumeral dystrophy.