To screen for additional hnRNPA1 mutations in patients, we surveyed a large cohort of 547 patients with distal HMN (dHMN), axonal Charcot-Marie-Tooth disease (CMT2), intermediate CMT (CMTi), spinal muscular atrophy (SMA), ALS, hereditary spastic paraplegia (HSP), and myopathy. Here, HNRNPA1 is linked to proximal spinal muscular atrophy.