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Genetic ataxias: update on classification and diagnostic approaches
Current Neurology and Neuroscience Reports ( IF 4.8 ) Pub Date : 2021-02-26 , DOI: 10.1007/s11910-021-01092-4
Natalie Witek , Jacob Hawkins , Deborah Hall

Ataxia encompasses a large group of rare disorders characterized by irregular movements, decreased coordination, imbalance, kinetic tremor, wide-based stance, and dysarthria. Evaluating ataxia can be challenging considering the volume of disorders and their complex pathologies involving diverse genetic and clinical factors. This is a comprehensive review of the genetic ataxia literature, presenting updated guidelines for differential diagnosis. Age, time course, and family history provide initial guidance for evaluation of ataxia. As genetic testing is increasingly utilized, new genes are discovered and phenotypes for existing disorders are expanded. This review assists physicians by offering a diagnostic roadmap for suspected hereditary ataxia based on the current literature.



中文翻译:

遗传共济失调:分类和诊断方法的最新进展

共济失调包括一大类罕见的疾病,其特征在于运动不规则,协调性下降,不平衡,运动性震颤,基础姿势宽泛和构音障碍。考虑到疾病的数量及其涉及多种遗传和临床因素的复杂病理,评估共济失调可能具有挑战性。这是对遗传共济失调文献的全面回顾,提出了鉴别诊断的最新指南。年龄,时程和家族史为评估共济失调提供了初步指导。随着基因测试的越来越多地使用,发现了新的基因并扩展了现有疾病的表型。这篇综述根据当前文献为可疑的遗传性共济失调提供了诊断路线图,从而为医生提供了帮助。

更新日期:2021-02-28
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