title: Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.
abstract: BACKGROUND
  Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament light-chain polypeptide (NEFL) gene. Giant axons are a histological hallmark frequently seen in nerves of patients with CMT2E.
  
  
  METHODS
  We describe the case of a 43-year-old patient with a painful, predominantly sensory neuropathy.
  
  
  RESULTS
  The patient's sural nerve biopsy showed multiple giant axons. Genetic sequencing of the NEFL gene revealed that the patient was heterozygous for an altered sequence of the gene, c.816C>G, p.Asn272Lys, which has not yet been described in CMT2E/1F.
  
  
  CONCLUSIONS
  In contrast to other cases of CMT2E/1F, where motor symptoms are predominant, pain was the most disabling symptom in this patient. Muscle Nerve 55: 752-755, 2017.
authors.affiliation: Department of Neurology, University Hospital Würzburg, Josef-Schneider-Strasse 11, 97080 Würzburg, Germany.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Doppler
authors.affiliation: Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
authors.forename: Erdmute
authors.initials: E
authors.lastname: Kunstmann
authors.affiliation: Gemeinschaftspraxis für Humangenetik, Dresden, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Krüger
authors.affiliation: Department of Neurology, University Hospital Würzburg, Josef-Schneider-Strasse 11, 97080 Würzburg, Germany.
authors.forename: Claudia
authors.initials: C
authors.lastname: Sommer
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*; D010146:Pain / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology*
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L
keywords: Charcot-Marie-Tooth neuropathy; giant axon; light-chain polypeptide; mutation; neurofilament; pain