Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

• Main Authors: A-ping Sun, Lu Tang, Qin Liao, Hui Zhang, Ying-shuang Zhang, Jun Zhang
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2015-01-01
• Series: Neural Regeneration Research
• Subjects: nerve regeneration; PMP22 duplication; demyelinating degeneration; hereditary disease; phenotype; axonal loss; electrophysiology; concentric structure; multiplex ligation-dependent probe amplification; neural regeneration
• Online Access: http://www.nrronline.org/article.asp?issn=1673-5374;year=2015;volume=10;issue=10;spage=1696;epage=1699;aulast=Sun
• ISSN: 1673-5374

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.