Neuromuscular manifestations associated with variants of PCH1-related genes may clinically present as amyotrophic lateral sclerosis (ALS), motor neuropathy (HMN) or neuronopathy (non-5q spinal muscular atrophy; SMA) or sensorimotor polyneuropathy (HMSN) [1]. Here, VRK1 is linked to hereditary motor and sensory neuropathy.