Stezin Albert, Pal Pramod Kumar
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
Centre for Brain Research, Indian Institute of Science, Bengaluru, India.
J Mov Disord. 2022 Sep;15(3):206-226. doi: 10.14802/jmd.22069. Epub 2022 Sep 7.
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple's disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.
可治疗性共济失调是一组具有特定治疗方法的共济失调性疾病。这些疾病包括遗传和代谢性疾病、免疫介导的共济失调性疾病，以及与感染和感染后病因、血管原因、毒素和化学物质、内分泌病相关的共济失调性疾病。本综述全面概述了不同的可治疗性共济失调。主要的代谢性和遗传性可治疗性共济失调性疾病包括维生素E缺乏性共济失调、无β脂蛋白血症、脑腱黄瘤病、C型尼曼-匹克病、辅酶Q10缺乏导致的常染色体隐性小脑共济失调、葡萄糖转运蛋白1缺乏症和发作性共济失调2型。这些疾病的治疗包括补充缺乏的辅助因子和维生素、饮食调整以及其他特定治疗。免疫介导病因的可治疗性共济失调包括麸质共济失调、抗谷氨酸脱羧酶抗体相关共济失调、与自身免疫性甲状腺炎相关的类固醇反应性脑病、米勒-费希尔综合征、多发性硬化症和副肿瘤性小脑变性。虽然麸质共济失调采用无麸质饮食进行饮食调整就足够了，但其他自身免疫性共济失调则通过短期类固醇、血浆置换或免疫调节来治疗。对于继发于恶性肿瘤的自身免疫性共济失调，肿瘤治疗可减轻共济失调症状。长期饮酒、抗癫痫药、抗癌药、接触杀虫剂、重金属和消遣性药物是共济失调潜在可避免和可治疗的病因。小脑共济失调的感染性和感染后病因包括急性小脑炎、感染后共济失调、惠普尔病、脑膜脑炎和进行性多灶性白质脑病。这些疾病用类固醇和抗生素治疗。鉴于早期治疗可预防永久性神经后遗症，在处理共济失调时识别可治疗性疾病至关重要。
