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由基因突变引起的外周神经病统称为Charcot-Marie-Tooth(CMT)病,它是最常见的遗传性神经系统疾病之一,发病率为1/2500。目前已知有超过53个染色体位点和35个特定基因与CMT有关,但是大部分CMT都是由周围髓鞘蛋白22(PMP22)基因变异所引起的。该文重点对PMP22的生物学及相关疾病的病理生理学进行综述。
Peripheral neuropathy caused by genetic mutations is referred to as Charcot-Marie-Tooth (CMT) disease and is one of the most common hereditary nervous system diseases with a prevalence of 1/2500. It is known that more than 53 chromosomal loci and 35 specific genes are known to be associated with CMT, but most of the CMT is caused by mutations in the peripheral myelin protein 22 (PMP22) gene. This article focuses on the pathophysiology of PMP22 biology and related diseases.