Abstract Details

Title A Case of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) with Charcot Marie Tooth Disease (CMT) and Mitofusin 2 Gene (MFN2) Mutation

Topic Autoimmune Neurology

Presentation(s) P3 - Poster Session 3 (12:00 PM-1:00 PM)

Poster/Presentation
Number 060

Objective NA

Background Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is an inflammatory disorder of central nervous system (CNS). Charcot-Marie-Tooth (CMT) disease represents a heterogeneous group of inherited neuropathies. CNS involvement and optic neuropathy have been reported in CMT, and peripheral nerve involvement has been reported in MOGAD. Neuronally-expressed mitofusin 2 gene (MFN2) has been reported to have neuroprotective and anti-inflammatory roles, and aberrant mitochondrial dynamics and increased response to neuroinflammation have been demonstrated in a mouse model created for characterization of MFNK357T CMT2A-causing mutation.

Design/Methods The clinical and paraclinical findings are presented below.

Results A 34-year-old female with axonal CMT2A secondary to MFN2 mutation presented with bilateral sequential optic neuritis, followed by thoracic myelitis. She has a family history of a motor axonal neuropathy affecting her brother and mother. On exam, she had bilateral visual impairment, left relative afferent pupillary defect, bilateral optic disc pallor, atrophy in tibial compartments, distal weakness in hands, mild proximal and significant distal weakness in lower extremities. Deep tendon reflexes were 1+ in upper limbs and absent in lower limbs. Pinprick and vibration sensation were mildly decreased in feet. She had a wide-based steppage gait. MOG antibody was positive in serum on two occasions. Cerebrospinal fluid (CSF) showed matching oligoclonal bands present in CSF and serum, elevated protein (0.77 g/L). MRI revealed T2 hyperintensity in right optic nerve, atrophy in left optic nerve, T2 hyperintensity from T1-T6 level in the spinal cord, with postcontrast enhancement. Nerve conduction study showed axonal motor predominant sensorimotor neuropathy. Optic neuritis and myelitis episodes responded to corticosteroid treatment, and she remains on IVIg and azathioprine.

Conclusions

To our knowledge, this is the first report of MOGAD in a patient with CMT2A caused by MFN2 mutation. Further studies are required to establish a potential correlation between MFN2 mutation and MOGAD.

Authors/Disclosures
Samantha Anne Gutierrez, MD PRESENTER	Dr. Gutierrez has nothing to disclose.
Katayoun Alikhani, MD (South Health Campus)	Dr. Alikhani has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Apotex, Biogen, Bristol Myers Squibb, EMD Serono, Novartis, Roche, Sanofi Genzyme.

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