Painful Charcot–Marie–Tooth neuropathy type 2E/1F due to a novel NEFL mutation. Issue 5 (13th February 2017)

• Record Type: Journal Article
• Authors: Doppler, Kathrin; Kunstmann, Erdmute; Krüger, Stefan; Sommer, Claudia
• Is Part Of: Muscle & nerve. Volume 55:Issue 5(2017)
• Page Start: 752
• Page End: 755
• Publication Date: 2017-02-13
• Subjects: Charcot–Marie–Tooth neuropathy -- giant axon -- light‐chain polypeptide -- mutation -- neurofilament -- pain; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.25410
• Languages: English
• ISSNs: 0148-639X

Abstract

ABSTRACT: Introduction: 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. Conclusion: 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