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CMT2CC associated with NEFH mutations: a predominantly motor neuronopathy
  1. Chiara Pisciotta,
  2. Davide Pareyson
  1. Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
  1. Correspondence to Dr Davide Pareyson, Rare Neurodegenerative and Neurometabolic Diseases Unit - Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133 Lombardia, Italy; davide.pareyson{at}istituto-besta.it

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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 …

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Footnotes

  • Contributors CP and DP contribution: conception and design of the work, drafting the work, final approval of the version to be published; agreement for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Disclaimer CP has no disclosure to report.

  • Competing interests DP declares donations from Pfizer, LAM Therapeutics and Acceleron to support research activities of his research unit; financial support from Pfizer, Alnylam and Kedrion for participation in national and international meetings; participation in the advisory board of Inflectis, Alnylam and Akcea; speaker honorarium from Alnylam.

  • Provenance and peer review Commissioned; internally peer reviewed.

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