Ramirez-Zamora Adolfo, Zeigler Warren, Desai Neeja, Biller José
Albany Medical Center, MC- 70 Department of Neurology, Albany, New York, USA.
Mov Disord. 2015 Apr 15;30(5):614-23. doi: 10.1002/mds.26158. Epub 2015 Mar 11.
The cerebellar ataxia syndromes are a heterogeneous group of disorders clinically characterized by the presence of cerebellar dysfunction. Initial assessment of patients with progressive cerebellar ataxia is complex because of an extensive list of potential diagnoses. A detailed history and comprehensive examination are required for an accurate diagnosis and hierarchical diagnostic investigations. Although no cure exists for most of these conditions, a small group of metabolic, hereditary, inflammatory, and immune-mediated etiologies of cerebellar ataxia are amenable to disease-modifying, targeted therapies. Over the past years, disease-specific treatments have emerged. Thus, clinicians must become familiar with these disorders because maximal therapeutic benefit is only possible when done early. In this article, we review disorders in which cerebellar ataxia is a prominent clinical feature requiring targeted treatments along with specific management recommendations.
小脑共济失调综合征是一组异质性疾病，临床特征为存在小脑功能障碍。由于潜在诊断众多，对进行性小脑共济失调患者的初始评估较为复杂。准确诊断和分层诊断性检查需要详细的病史和全面的体格检查。尽管大多数这些病症无法治愈，但一小部分代谢性、遗传性、炎症性和免疫介导的小脑共济失调病因适合进行疾病修饰性靶向治疗。在过去几年中，出现了针对特定疾病的治疗方法。因此，临床医生必须熟悉这些疾病，因为只有早期进行治疗才能获得最大的治疗益处。在本文中，我们回顾了以小脑共济失调为突出临床特征且需要靶向治疗及具体管理建议的疾病。
