{"title":"The evolving spectrum of complex inherited neuropathies.","authors":"Alexander M Rossor, Saif Haddad, Mary M Reilly","doi":"10.1097/WCO.0000000000001307","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>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.</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":"427-444"},"PeriodicalIF":4.1000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11377048/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/WCO.0000000000001307","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/31 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Purpose of review: 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.
Recent findings: 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.
Summary: 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.
综述的目的：遗传性周围神经病可分为以周围神经病为唯一或主要特征的疾病（夏科-玛丽-牙病）和以周围神经病为更复杂综合征特征的疾病。近年来，与复杂神经病综合征相关的基因数量大幅增加：本综述将重点关注这类疾病中新出现的主题，即由于重复扩增而导致的疾病数量不断增加；同一基因中隐性和显性阴性等位基因的出现产生了共同的表型，以及造血干细胞中等位基因的选择性缺失使得根据血液中的 DNA 进行基因诊断成为难题。摘要：在本综述中，我们提供了一种实用的方法，用于调查和诊断作为复杂综合征一部分的周围神经病患者，并提供了与这类疾病相关的最新基因表。
期刊介绍：
Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.
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