A subset of patients with inflammatory demyelinating polyneuropathy has been described to have auto-antibodies to various node of Ranvier proteins, including neurofascin-140 and neurofascin-155.

A retrospective chart review of eleven patients with NF140 and/or NF155 IgG antibodies who were seen in the Neuromuscular Clinic at Emory University.

There were five female and six male patients. Four patients had antibodies to both NF140 and NF155, four had antibodies to NF140, and three had antibodies to NF155. Ten of the eleven patients were diagnosed with chronic inflammatory demyelinating polyneuropathy and one with acute inflammatory demyelinating polyneuropathy. Average age of symptom onset was 43 years old. Symptom onset was acute/subacute in six of the patients and chronic in five. Symptoms most often started in the lower extremities, but in three the upper extremities were involved at onset. Six patients endorsed neuropathic pain, five had bulbar involvement, and six had tremor. Electrodiagnostic studies showed a mixed axonal/demyelinating pattern (8), an axonal pattern (2), and a pure demyelinating pattern (1). Nerve ultrasounds were obtained in four patients and all showed features consistent with acquired demyelination. Eight patients underwent treatment with IVIG; of these, two improved, two had partial response, and four had no response. Six patients received steroids; one improved, one had partial response, and four had no response. Two patients underwent plasma exchange; one had improvement and one had partial response. Two patients received rituximab; one had partial response and one did not respond.

Patients with antibodies to neurofascin-140 and/or neurofascin-155 have variable presentations. These antibodies should be considered in patients who have demyelinating polyneuropathy with acute/subacute onset, bulbar involvement, and are resistant to treatment.