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Painful Charcot–Marie–Tooth neuropathy type 2E/1F due to a novel NEFL mutation
Author(s) -
Doppler Kathrin,
Kunstmann Erdmute,
Krüger Stefan,
Sommer Claudia
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25410
Subject(s) - tooth disease , sensory neuropathy , mutation , neurofilament , medicine , nerve biopsy , sural nerve , peripheral neuropathy , hereditary motor and sensory neuropathy , gene , pathology , anatomy , biology , genetics , surgery , endocrinology , disease , immunohistochemistry , diabetes mellitus
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