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The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy
Annual Review of Pathology: Mechanisms of Disease ( IF 28.4 ) Pub Date : 2021-01-26
Soumitra Ghosh, Warren G. Tourtellotte

Hereditary peripheral neuropathy (HPN) is a complex group of neurological disorders caused by mutations in genes expressed by neurons and Schwann cells. The inheritance of a single mutation or multiple mutations in several genes leads to disease phenotype. Patients exhibit symptoms during development, at an early age or later in adulthood. Most of the mechanistic understanding about these neuropathies comes from animal models and histopathological analyses of postmortem human tissues. Diagnosis is often very complex due to the heterogeneity and overlap in symptoms and the frequent overlap between various genes and different mutations they possess. Some symptoms in HPN are common through different subtypes such as axonal degeneration, demyelination, and loss of motor and sensory neurons, leading to similar physiologic abnormalities. Recent advances in gene-targeted therapies, genetic engineering, and next-generation sequencing have augmented our understanding of the underlying pathogenetic mechanisms of HPN.

中文翻译:


遗传性周围神经病变的复杂临床和遗传环境

遗传性周围神经病(HPN)是由神经元和雪旺氏细胞表达的基因突变引起的一组复杂的神经系统疾病。几个基因中单个突变或多个突变的遗传导致疾病表型。患者在发育过程中,成年或成年后都会出现症状。对这些神经病的大多数机理理解来自动物模型和死后人体组织的组织病理学分析。由于症状的异质性和重叠以及各种基因和它们拥有的不同突变之间的频繁重叠,诊断通常非常复杂。HPN中的某些症状是通过不同的亚型而常见的,例如轴突变性,脱髓鞘以及运动和感觉神经元丢失,从而导致类似的生理异常。

更新日期:2021-01-28
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