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Case Reports
. 2021 Mar;63(3):396-401.
doi: 10.1002/mus.27102. Epub 2020 Dec 24.

Motor axonal neuropathy associated with GNE mutations

Nicolae Grecu  1 , Luisa Villa  1 , Michele Cavalli  2 , Antoine Ristaino  1 , Ariane Choumert  3 , Catherine Butori  4 , Leonardo Salviati  5 , Angela Puma  1 , Martin Krahn  6   7 , Mathieu Cerino  6   7   8 , Sabrina Sacconi  1
Affiliations
Case Reports

Motor axonal neuropathy associated with GNE mutations

Nicolae Grecu et al. Muscle Nerve. 2021 Mar.

Abstract

Background: Mutations in the GNE gene have been so far described as predominantly associated with distal lower-limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.

Methods: We describe three patients displaying motor neuropathy in association with GNE mutations. Clinical, electrophysiological, imaging, pathological, and genetic data are presented in a retrospective manner.

Results: The three patients had different phenotypes, ranging from mildly progressive lower limb weakness to a rapidly progressive 4-limb weakness. Genetic testing revealed GNE gene mutations in all patients; of those mutations, p.(His186Arg) has not been previously reported. All patients showed evidence of axonal motor nerve involvement on electrodiagnostic examination and/or muscle biopsy.

Conclusions: Nerve involvement associated with GNE gene mutations may be an underdiagnosed pathology and may influence clinical presentation and disease progression.

Keywords: GNE; Nonaka myopathy; inclusion body myopathy type 2; myopathy; neuropathy.

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References

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