TY - JOUR T1 - CMT2CC associated with <em>NEFH</em> mutations: a predominantly motor neuronopathy JF - Journal of Neurology, Neurosurgery &amp; Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1 LP - 1 DO - 10.1136/jnnp-2021-327438 VL - 93 IS - 1 AU - Chiara Pisciotta AU - Davide Pareyson Y1 - 2022/01/01 UR - http://jnnp.bmj.com/content/93/1/1.2.abstract N2 - In the paper by Pipis et al,1 the authors report the phenotype–genotype correlations on 30 patients with Charcot-Marie-Tooth disease type 2CC (CMT2CC) and 3 asymptomatic mutation carriers from 8 unrelated families carrying 6 different mutations in the neurofilament heavy chain (NEFH) gene. Four of the families have been previously reported. The phenotype is different from typical axonal Charcot-Marie-Tooth disease (CMT) as it is characterised by a non-length-dependent neuro(no)pathy, affecting first and mostly the lower limbs, starting either distally or sometimes proximally, rapidly spreading to proximal lower limb muscles, causing significant disability, with only minor sensory symptoms and signs; early foot plantar flexion weakness is another atypical feature. In the majority of patients, neurophysiological studies and muscle MRI confirm the non-length-dependent neuropathic … ER -