Abstract Details

Title A Triad of CMT1A Hereditary Neuropathy, Anti-neurofascin-155 IgG Antibodies and Relapsing Remitting Multiple Sclerosis

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-036

Objective To present a patient with Charcot-Marie-Tooth syndrome type 1A (CMT1A), anti-neurofascin antibodies and multiple sclerosis (MS).

Background While central demyelination has been described in the setting of both hereditary and inflammatory neuropathy, anti-neurofascin antibodies (anti-NF) have only been reported in chronic inflammatory demyelinating polyneuropathy (CIDP) and MS. We report the first case of genetically-confirmed CMT1A, anti-NF and MS.

Design/Methods Case Report

Results A 24-year-old woman diagnosed with relapsing remitting MS 5 years prior presented with progressive difficulty walking. Symptoms were initially thought to be due to secondary progression given imaging stability. However, the presence of pes cavus, diffuse areflexia and familial history of gait abnormalities prompted further testing with EMG, which showed absent sensory responses, uniformly prolonged motor latencies and slowed conduction velocities (9m/s). Genetic testing confirmed PMP22 duplication consistent with CMT1A neuropathy. CSF showed normal cell count, normal glucose and a protein of 242. MRI CNS axis showed multiple non-enhancing white matter lesions throughout the brain and spinal cord as well as diffuse thickening and enhancement of cranial and spinal nerves. Neurofascin-155 IgG antibodies were positive in the serum.

Conclusions A small percentage of patients with CIDP may be positive for anti-NF, which may predict a favorable response to plasmapheresis and IVIG-refractory disease. However, when CNS demyelination is present, anti-NF seropositivity may indicate IVIG responsiveness. In patients with MS, a co-existent antibody-driven disease may warrant a change to a B-cell depleting therapy such as ocrelizumab or rituximab. The co-existence of a hereditary neuropathy such as CMT1A questions whether the anti-NF demyelination and MS are the results of the ongoing peripheral nerve damage with epitopic spreading, exposing neurofascin antigens to the immune system and resulting in a secondary demyelinating disease.

Authors/Disclosures
Elena I. Grebenciucova, MD (Northwestern Unversity) PRESENTER	Dr. Grebenciucova has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. The institution of Dr. Grebenciucova has received research support from Lupus Research Alliance .
Jinny O. Tavee, MD (National Jewish Health)	Dr. Tavee has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for CSL Behring. Dr. Tavee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Johnson and Johnson. Dr. Tavee has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Dynamed. The institution of Dr. Tavee has received research support from Woolsey. The institution of Dr. Tavee has received research support from Milken Foundation. The institution of Dr. Tavee has received research support from CSL Behring. Dr. Tavee has received personal compensation in the range of $0-$499 for serving as a Article author with Medlink.

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