{"title":"Ataxia.","authors":"Theresa A Zesiewicz","doi":"10.1212/cont.0000000000001599","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia.</p><p><strong>Latest developments: </strong>The development of genetic techniques, including next-generation sequencing, over the past 30 years has facilitated the characterization of many forms of ataxia, including spinocerebellar ataxia. Spinocerebellar ataxia type 27b was described as a late-onset hereditary ataxia, and it appears to be a common form of spinocerebellar ataxia. The genetic basis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) was identified in 2019 as a biallelic intronic repeat expansion in the <i>RFC1</i> gene. The first drug to treat Friedreich ataxia, omaveloxolone, was approved by the US Food and Drug Administration (FDA) in 2023.</p><p><strong>Essential points: </strong>Cerebellar ataxias encompass a wide range of diseases. Recognizing ataxia as a symptom is crucial for initiating the diagnostic process. Genetic testing and counseling can be used to identify the type of ataxia and to assess the risk for unaffected family members. Significant progress has been made in understanding cerebellar syndromes, and there is optimism for the development of new therapies.</p>","PeriodicalId":52475,"journal":{"name":"CONTINUUM Lifelong Learning in Neurology","volume":"31 4","pages":"1093-1119"},"PeriodicalIF":0.0000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"CONTINUUM Lifelong Learning in Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1212/cont.0000000000001599","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Medicine","Score":null,"Total":0}
Objective: Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia.
Latest developments: The development of genetic techniques, including next-generation sequencing, over the past 30 years has facilitated the characterization of many forms of ataxia, including spinocerebellar ataxia. Spinocerebellar ataxia type 27b was described as a late-onset hereditary ataxia, and it appears to be a common form of spinocerebellar ataxia. The genetic basis of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) was identified in 2019 as a biallelic intronic repeat expansion in the RFC1 gene. The first drug to treat Friedreich ataxia, omaveloxolone, was approved by the US Food and Drug Administration (FDA) in 2023.
Essential points: Cerebellar ataxias encompass a wide range of diseases. Recognizing ataxia as a symptom is crucial for initiating the diagnostic process. Genetic testing and counseling can be used to identify the type of ataxia and to assess the risk for unaffected family members. Significant progress has been made in understanding cerebellar syndromes, and there is optimism for the development of new therapies.
期刊介绍：
Continue your professional development on your own schedule with Continuum: Lifelong Learning in Neurology®, the American Academy of Neurology" self-study continuing medical education publication. Six times a year you"ll learn from neurology"s experts in a convenient format for home or office. Each issue includes diagnostic and treatment outlines, clinical case studies, a topic-relevant ethics case, detailed patient management problem, and a multiple-choice self-assessment examination.
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