Hereditary neuropathies may result from mutations in genes expressed by Schwann cells or neurons that affect selectively the peripheral nervous system (PNS) or may represent a minor or major component of complex inherited diseases that involve also the central nervous system and/or other organs and tissues. The chapter is constantly expanding and reworking, thanks to advances of molecular genetics; next-generation sequencing is identifying a plethora of new genes and is revolutionizing the diagnostic approach. In the past, diagnostic sural nerve biopsies paved the way to the discovery and elucidation of major genes and molecular pathways associated to most frequent hereditary motor–sensory neuropathies. Nowadays, a sural nerve biopsy may prove useful in selected cases for the differential diagnosis of an acquired neuropathy when clinical examination, nerve conduction studies, and molecular tests are not sufficiently informative. Skin biopsy has emerged as a minimally invasive window on the PNS, which may provide biomarkers of progression and clues to the physiopathology and molecular pathology of inherited neuropathies. The aim of our review is to illustrate the pathological features of more frequent and paradigmatic hereditary neuropathies and to highlight their correlations with the roles of the involved genes and functional consequences of related molecular defects.

中文翻译：

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遗传性神经病：病理学观点

遗传性神经病可能是由雪旺细胞或神经元表达的基因突变引起的，这些突变选择性地影响周围神经系统 (PNS)，或者可能代表复杂遗传疾病的次要或主要组成部分，也涉及中枢神经系统和/或其他器官和组织. 由于分子遗传学的进步，本章不断扩展和修改；下一代测序正在识别大量新基因，并正在彻底改变诊断方法。过去，诊断性腓肠神经活检为发现和阐明与最常见的遗传性运动感觉神经病相关的主要基因和分子途径铺平了道路。如今，当临床检查、神经传导研究和分子检测不能提供足够的信息时，腓肠神经活检可能对某些获得性神经病变的鉴别诊断有用。皮肤活检已成为 PNS 的微创窗口，它可能提供进展的生物标志物以及遗传性神经病的生理病理学和分子病理学的线索。我们审查的目的是说明更常见和典型的遗传性神经病的病理特征，并强调它们与相关基因的作用和相关分子缺陷的功能后果的相关性。这可能提供进展的生物标志物以及遗传性神经病的生理病理学和分子病理学的线索。我们审查的目的是说明更常见和典型的遗传性神经病的病理特征，并强调它们与相关基因的作用和相关分子缺陷的功能后果的相关性。这可能提供进展的生物标志物以及遗传性神经病的生理病理学和分子病理学的线索。我们审查的目的是说明更常见和典型的遗传性神经病的病理特征，并强调它们与相关基因的作用和相关分子缺陷的功能后果的相关性。