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Motor axonal neuropathy associated with GNE mutations
Author(s) -
Grecu Nicolae,
Villa Luisa,
Cavalli Michele,
Ristaino Antoine,
Choumert Ariane,
Butori Catherine,
Salviati Leonardo,
Puma Angela,
Krahn Martin,
Cerino Mathieu,
Sacconi Sabrina
Publication year - 2021
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.27102
Subject(s) - weakness , medicine , peripheral neuropathy , pathological , nerve biopsy , muscle biopsy , disease , motor neuron , pathology , mutation , phenotype , gene mutation , axonal degeneration , biopsy , gene , biology , surgery , genetics , endocrinology , diabetes mellitus
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.