Raslan Ivana Rocha, Barsottini Orlando G, Pedroso José Luiz
Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.
Neurol Clin Pract. 2021 Jun;11(3):e328-e336. doi: 10.1212/CPJ.0000000000000966.
This review proposes a clinical classification for congenital ataxias based on clinical features, neuroimaging, and course of the disease.
Congenital ataxias are an unusual group of neurologic disorders, with heterogeneous clinical and genetic presentation. Typical clinical features of congenital ataxias include variable degrees of motor developmental delay, very early onset cerebellar ataxia, cognitive impairment, and hypotonia, frequently mistakenly diagnosed as cerebral palsy. Congenital ataxias are usually nonprogressive. Neuroimaging plays an important role in the characterization of congenital ataxias. Despite the development of genetics with exome sequencing, several congenital ataxias remain undetermined, and medical literature on this topic is scarce.
A didactic classification based on the clinical and neuroimaging features for congenital ataxias include the following 4 main groups: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia, and pontocerebellar hypoplasia. A diagnostic approach for congenital ataxias is proposed, and its differential diagnosis is also discussed.
本综述基于临床特征、神经影像学及疾病进程，提出先天性共济失调的临床分类。
先天性共济失调是一组特殊的神经系统疾病，临床和基因表现具有异质性。先天性共济失调的典型临床特征包括不同程度的运动发育迟缓、极早发的小脑共济失调、认知障碍和肌张力减退，常被误诊为脑瘫。先天性共济失调通常为非进行性。神经影像学在先天性共济失调的特征描述中起重要作用。尽管外显子组测序技术推动了遗传学发展，但仍有几种先天性共济失调病因不明，关于该主题的医学文献也很匮乏。
基于临床和神经影像学特征对先天性共济失调进行的教学分类包括以下4个主要类别：小脑畸形、综合征性先天性共济失调、先天性小脑发育不全和脑桥小脑发育不全。本文提出了先天性共济失调的诊断方法，并讨论了其鉴别诊断。
