K P Divya, Kishore Asha
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala 695011, India.
Clin Park Relat Disord. 2020 Apr 4;3:100053. doi: 10.1016/j.prdoa.2020.100053. eCollection 2020.
Cerebellar ataxic syndrome is a heterogenous class of disorders which can result from a miscellany of causes- genetic or acquired. There are a few metabolic, immune mediated, inflammatory and hereditary causes of ataxia which can be diagnosed from the gamut of possibilities, offering great relief to the ailing patient, their family and the treating physician. A pragmatic algorithm for diagnosing treatable causes of ataxia includes a thorough clinical history, meticulous examination for associated signs and an investigative mind to clinch the diagnosis. With novel diagnostic techniques and targeted therapies, early diagnosis and treatment can lead to favourable outcomes. In this review, diseases presenting predominantly as cerebellar ataxia and are treatable by targeted therapies are discussed.
小脑共济失调综合征是一类异质性疾病，可由多种原因引起——包括遗传或后天因素。共济失调有一些代谢、免疫介导、炎症和遗传方面的病因，可从众多可能性中诊断出来，这为患病患者、其家人及主治医生带来极大宽慰。用于诊断可治疗性共济失调病因的实用算法包括详尽的临床病史、对相关体征的细致检查以及用于确诊的探究思维。借助新颖的诊断技术和靶向治疗，早期诊断和治疗可带来良好预后。在本综述中，将讨论主要表现为小脑共济失调且可通过靶向治疗治愈的疾病。
