Nicolae Grecu1, Luisa Villa1, Michele Cavalli2, Antoine Ristaino1, Ariane Choumert3, Catherine Butori4, Leonardo Salviati5, Angela Puma1, Martin Krahn6,7, Mathieu Cerino6,7,8, Sabrina Sacconi1. 1. Côte d'Azur University, Peripheral Nervous System and Muscle Department, Nice University Hospital, Nice, France. 2. Department of Biomedical Sciences for Health, University of Milan, Milan, Italy. 3. Rare Neurological Diseases Department, La Réunion University Hospital, Saint-Pierre, France. 4. Clinical and Experimental Laboratory, Nice University Hospital, Nice, France. 5. Department of Women and Children's Health, University of Padova, Padova, Italy. 6. Aix-Marseille Université, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France. 7. Département de Génétique Médicale, APHM, Hôpital Timone Enfants, Marseille, France. 8. APHM, Hôpital de la Conception, Laboratoire de Biochimie, Marseille, France.
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.
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.