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

Kathrin Doppler; Erdmute Kunstmann; Stefan Krüger; Claudia Sommer

doi:10.1002/mus.25410

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

Muscle Nerve. 2017 May;55(5):752-755. doi: 10.1002/mus.25410. Epub 2017 Feb 13.

Authors

Kathrin Doppler¹, Erdmute Kunstmann², Stefan Krüger³, Claudia Sommer¹

Affiliations

¹ Department of Neurology, University Hospital Würzburg, Josef-Schneider-Strasse 11, 97080 Würzburg, Germany.
² Institute of Human Genetics, University of Würzburg, Würzburg, Germany.
³ Gemeinschaftspraxis für Humangenetik, Dresden, Germany.

PMID: 27649278
DOI: 10.1002/mus.25410

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.

Keywords: Charcot-Marie-Tooth neuropathy; giant axon; light-chain polypeptide; mutation; neurofilament; pain.

Publication types

Case Reports

MeSH terms

Adult
Charcot-Marie-Tooth Disease / diagnosis*
Charcot-Marie-Tooth Disease / genetics
Charcot-Marie-Tooth Disease / pathology
Humans
Male
Mutation*
Neurofilament Proteins / genetics*
Pain / diagnosis*
Pain / genetics
Pain / pathology
Sural Nerve / pathology*

Substances

Neurofilament Proteins
neurofilament protein L

Supplementary concepts

Charcot-Marie-Tooth disease, Type 2E