title: Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family.
abstract: 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.
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: A-Ping
authors.initials: AP
authors.lastname: Sun
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Lu
authors.initials: L
authors.lastname: Tang
authors.affiliation: Department of Neurology, Beijing Jishuitan Hospital, Beijing, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Liao
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Ying-Shuang
authors.initials: YS
authors.lastname: Zhang
authors.affiliation: Department of Neurology, Peking University Third Hospital, Beijing, China.
authors.forename: Jun
authors.identifier: 0000-0001-9593-3644
authors.initials: J
authors.lastname: Zhang
keywords: PMP22 duplication; axonal loss; concentric structure; demyelinating degeneration; electrophysiology; hereditary disease; multiplex ligation-dependent probe amplification; nerve regeneration; neural regeneration; phenotype