Muscle & nerve · 2017
Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.
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Doppler Kathrin, Kunstmann Erdmute, Krüger Stefan, Sommer Claudia
Аннотация
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.
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.