Motor axonal neuropathy associated with GNE mutations

Area of Science:

• Genetics
• Neurology
• Molecular Biology

Background:

• Mutations in the GNE gene are typically linked to distal lower-limb myopathies.
• Emerging evidence suggests GNE gene mutations are also associated with peripheral neuropathy and motor neuron disease.

Observation:

• Three patients with motor neuropathy and GNE gene mutations were analyzed retrospectively.
• Phenotypes varied from mild lower limb weakness to rapid four-limb weakness.
• A novel mutation, p.(His186Arg), was identified in the GNE gene.

Findings:

• All patients exhibited axonal motor nerve involvement confirmed by electrodiagnostic testing and/or muscle biopsy.
• Genetic testing confirmed GNE gene mutations in all three cases.
• The study identified a previously unreported GNE mutation, p.(His186Arg).

Implications:

• Nerve involvement due to GNE gene mutations may be an underdiagnosed condition.
• Recognizing GNE-associated neuropathy is crucial for accurate diagnosis and management.
• This pathology can significantly influence the clinical presentation and progression of GNE-related disorders.