Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square institute of Neurology and National Hospital for Neurology and Neurosurgery.
Department of Neurology, Guys and St Thomas' Hospitals NHS Foundation Trust, UK.
Curr Opin Neurol. 2024 Oct 1;37(5):427-444. doi: 10.1097/WCO.0000000000001307. Epub 2024 Jul 31.
Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which peripheral neuropathy is just one feature of a more complex syndrome. In recent years there has been a substantial expansion in the number of genes associated with complex neuropathy syndromes.
This review will focus on emerging themes in this group of diseases, namely the increasing number of diseases due to repeat expansions; the emergence of both recessive and dominant negative alleles in the same gene producing a common phenotype and diseases in which there is selective loss of the allele from haematopoietic stem cells making genetic diagnosis on blood derived DNA problematic.
In this review we provide a practical approach to investigating and diagnosing patients with peripheral neuropathy as part of a complex syndrome and provide an updated table of the genes associated with this group of diseases.
遗传性周围神经病可分为以下两种疾病：一种是周围神经病为唯一或主要特征的疾病（Charcot-Marie-Tooth 病）；另一种是周围神经病只是更为复杂综合征的一个特征。近年来，与复杂神经病综合征相关的基因数量显著增加。
本综述将重点关注该组疾病中的新兴主题，即由于重复扩展引起的疾病数量不断增加；同一个基因中隐性和显性负等位基因的出现导致相同表型，以及造血干细胞中从等位基因选择性丢失导致血液衍生 DNA 的遗传诊断出现问题的疾病。
在本综述中，我们提供了一种实用的方法来对作为复杂综合征一部分的周围神经病患者进行检查和诊断，并提供了与该组疾病相关的基因的最新表格。
