Introduction: Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene.
Methods: We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases.
Results: The Gly112Ser mutation causing CMT1C is a mild form of CMT, as patients walked on time, had less weakness than those with Charcot-Marie-Tooth disease type 1A (CMT1A), had a CMT neuropathy score (CMTNS) indicative of mild disease, and had faster ulnar and median motor nerve conduction velocities compared to those with CMT1A.
Discussion: The G112S mutation in LITAF seems to be clinically indistinguishable from a mild presentation of CMT1A. Muscle Nerve 56: 1092-1095, 2017.
Keywords: CMT1C; EDx; HMSN type 1; LITAF; SIMPLE; nerve conduction studies.
© 2017 Wiley Periodicals, Inc.