Meira Alex Tiburtino, Vale Thiago Cardoso, da Costa Sophia C G, Gauvreau Claudie, Piccinin Camila Callegari, Teive Hélio A G, França Marcondes C, Dupré Nicolas, Barsottini Orlando G, Pedroso José Luiz
Department of Internal Medicine, Federal University of Paraíba, João Pessoa, PB, Brazil.
Department of Internal Medicine, Federal University of Juiz de Fora, Juiz de Fora, MG, Brazil.
Cerebellum. 2025 Sep 13;24(6):154. doi: 10.1007/s12311-025-01908-w.
Ataxias are a group of neurologic disorders, with heterogeneous clinical and genetic presentation and with a challenging diagnostic approach that navigates through the neuroimage field. Typical clinical features of ataxias include variable degrees of cerebellar ataxia, as a pure clinical picture or associated with other neurologic or extra neurological symptoms (cognitive impairment, epilepsy, other movement disorders, abnormal ocular movements, systemic symptoms). Neuroimaging plays an important role in the characterization of patients with ataxia. Despite the development of genetics and neuroimaging, some cases remain with no diagnosis. This review proposes a didactic investigation approach for ataxias based on three main magnetic resonance imaging features: a) ataxias without cerebellar atrophy; b) ataxias with pure cerebellar atrophy or olivopontocerebellar atrophy; and c) ataxias with specific imaging features. A comprehensive review of peer-reviewed articles on neuroimaging in diseases associated with cerebellar ataxia was conducted through a search in PubMed and SciELO. For each topic, we discuss the possible diagnosis and suggest a guided investigation. The classification of cerebellar ataxias into distinct categories-based on the presence or absence of cerebellar atrophy and specific neuroradiological features-profoundly enhances the diagnostic approach to these complex disorders.
共济失调是一组神经系统疾病，具有异质性的临床和遗传表现，其诊断方法颇具挑战性，需要在神经影像领域中摸索。共济失调的典型临床特征包括不同程度的小脑共济失调，可为单纯的临床表现，或伴有其他神经或非神经症状（认知障碍、癫痫、其他运动障碍、异常眼球运动、全身症状）。神经影像学在共济失调患者的特征描述中起着重要作用。尽管遗传学和神经影像学有所发展，但仍有一些病例无法确诊。本综述基于磁共振成像的三个主要特征，提出了一种针对共济失调的教学性研究方法：a）无小脑萎缩的共济失调；b）单纯小脑萎缩或橄榄脑桥小脑萎缩的共济失调；c）具有特定影像学特征的共济失调。通过在PubMed和SciELO中检索，对同行评审的关于小脑共济失调相关疾病神经影像学的文章进行了全面综述。对于每个主题，我们讨论了可能的诊断并提出了指导性研究建议。根据小脑萎缩的有无和特定的神经放射学特征，将小脑共济失调分为不同类别，这极大地改进了对这些复杂疾病的诊断方法。
