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Abstract Details

Expanding Spectrum of Charcot Marie Tooth Disease type 2U: Novel Variants of the MARS Gene
Neuromuscular and Clinical Neurophysiology (EMG)
P2 - Poster Session 2 (11:45 AM-12:45 PM)
11-011
N/A
Charcot Marie Tooth type 2U is an autosomal dominant disease which is clinically characterized by distal sensory axonal neuropathy which often presents in late adulthood. Few case reports have mentioned early onset of disease in some patients. Disease progression is slow, characterized by muscle atrophy and weakness in the lower extremities. Various genes have been reported to be associated with CMT type 2U. Results of our genetic testing in a familial case further expands the clinical and genetic spectrum of the MARS gene. 
We present two cases of a slowly progressive predominantly sensory peripheral neuropathy, confirmed with electro-diagnostic testing as sensory axonal peripheral neuropathies. Routine testing for the sensory neuropathy was unremarkable. Both the patients had elevated C-reactive protein levels and genetic testing confirmed a MARS gene mutation consistent with CMT type 2U. Patients are father and daughter. 
We have reported two patients diagnosed Charcot Marie Tooth diease type 2U who present as autosomal dominant sensory axonal neuropathy. Both had C2333G>A variants of the MARS gene, which has been reported as a variant of unspecified significance. 
To the best of our understanding, this specific variant of the MARS gene has not been reported to be pathogenic in resulting in CMT 2U. Both of these patients have their initial symptoms in the fifth decade of life with predominant involvement of the distal sensory nerves which eventually progressed into all four extremities. Knowing these unique findings further expand the spectrum of CMT type 2U associated with c2333G>A variants of MARS, a true pathogenic variant. 
Authors/Disclosures
Baljinder Singh, MD
PRESENTER 		Dr. Singh has nothing to disclose.
Elina Zakin, MD, FAAN (NYU Grossman School of Medicine) The institution of Dr. Zakin has received research support from American Board of Psychiatry and Neurology.