Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

Introduction: Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament lightchain 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. Conclusion: In contrast to other cases of CMT2E/1F, where motor symptoms are predominant, pain was the most disabling symptom in this patient.