Snipes G J, Suter U
Department of Neurobiology, Stanford University School of Medicine, California 94305, USA.
Brain Pathol. 1995 Jul;5(3):233-47. doi: 10.1111/j.1750-3639.1995.tb00600.x.
The Hereditary Motor and Sensory Neuropathies (HMSNs) are well known to be clinically, morphologically, and genetically heterogeneous. Yet, recent advances in the cellular and molecular biology of the peripheral nervous system coupled with remarkable progress in human and mouse genetics have provided a framework that has profoundly changed our understanding of the pathogenesis of these diseases. It now appears that most of the HMSNs are related to mutations affecting genes encoding Schwann cell proteins, specifically the Peripheral Myelin Protein PMP22, Myelin Protein Zero, and one of the gap junction proteins, connexin-32. Accordingly, these findings are discussed in the context of the clinical and pathologic features of the human HMSNs, but are interpreted in the context of basic research findings on the cellular and molecular biology of the peripheral nervous system derived from in vivo and in vitro studies in spontaneously-occurring and genetically engineered animal models for the HMSNs.
遗传性运动和感觉神经病（HMSNs）在临床、形态学和遗传学上具有异质性，这是众所周知的。然而，外周神经系统细胞和分子生物学的最新进展，以及人类和小鼠遗传学的显著进步，提供了一个框架，深刻改变了我们对这些疾病发病机制的理解。现在看来，大多数HMSNs与影响编码施万细胞蛋白的基因突变有关，特别是外周髓鞘蛋白PMP22、髓鞘蛋白零以及一种间隙连接蛋白连接蛋白32。因此，这些发现将结合人类HMSNs的临床和病理特征进行讨论，但会根据在HMSNs的自发和基因工程动物模型中进行的体内和体外研究得出的外周神经系统细胞和分子生物学基础研究结果进行解读。
