Case of the Month
Charcot-marie-tooth disease type 4C in Japan: Report of a case
Article first published online: 28 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
Muscle & Nerve
Volume 47, Issue 2, pages 283–286, February 2013
How to Cite
Iguchi, M., Hashiguchi, A., Ito, E., Toda, K., Urano, M., Shimizu, Y., Takeuchi, C., Saito, K., Takashima, H. and Uchiyama, S. (2013), Charcot-marie-tooth disease type 4C in Japan: Report of a case. Muscle Nerve, 47: 283–286. doi: 10.1002/mus.23540
- Issue published online: 24 JAN 2013
- Article first published online: 28 DEC 2012
- Accepted manuscript online: 1 AUG 2012 03:17AM EST
- Manuscript Accepted: 28 JUL 2012
- autosomal recessive inheritance;
- hereditary neuropathy;
- Charcot-Marie-Tooth disease type 4C;
- SH3TC2 gene
The distribution of documented cases of Charcot-Marie-Tooth disease type 4C (CMT4C) is mainly limited to the Mediterranean region. We report the first documented case of CMT4C in East Asia. Furthermore, we estimate the proportion of CMT4C in Japan and compare the same with that in European countries.
A 72-year-old Japanese woman presented with early-onset motor and sensory neuropathy associated with scoliosis, deformities of the hands and feet, and carpal tunnel syndrome. A genetic screen detected a homozygous p.R529Q mutation in SH3TC2, the causative gene of CMT4C. The SH3TC2 mutation identified here is unique among 426 unrelated Japanese CMT patients, excluding those with CMT1A.
Although CMT4C also occurs in Japan, it is less common than in European countries. Muscle Nerve, 2013