Boltshauser Eugen, Weber Konrad P
Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.
Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland; Departments of Neurology and Ophthalmology, University Hospital Zurich, University of Zurich, Switzerland.
Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5.
This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Adequate interpretation of test results has to consider age-specific reference values. The selection of investigations should mainly be driven by the overall clinical context, considering gender, history, age, and mode of presentation, cerebellar and other neurologic as well as extraneurologic findings.
本章涉及化学和血液学检查，这些检查常用于亚急性至慢性小脑性共济失调的诊断评估。文中讨论了血液（血清、血浆）、尿液和脑脊液的相关检查。特别关注可治疗的代谢性共济失调（如无β脂蛋白血症、辅酶Q10缺乏症、脑腱黄瘤病、1型葡萄糖转运体缺乏症、Refsum病和维生素E缺乏症）的早期诊断，但自身免疫性共济失调、其他维生素缺乏症和内分泌疾病也应予以考虑。对检查结果的充分解读必须考虑特定年龄的参考值。检查的选择应主要由整体临床情况决定，同时考虑性别、病史、年龄、表现方式、小脑及其他神经系统以及神经外的检查结果。
