Paap Brigitte K, Roeske Sandra, Durr Alexandra, Schöls Ludger, Ashizawa Tetsuo, Boesch Sylvia, Bunn Lisa M, Delatycki Martin B, Giunti Paola, Lehéricy Stéphane, Mariotti Caterina, Melegh Jörg, Pandolfo Massimo, Tallaksen Chantal M E, Timmann Dagmar, Tsuji Shoji, Schulz Jörg Bela, van de Warrenburg Bart P, Klockgether Thomas
German Center for Neurodegenerative Diseases (DZNE) Bonn Germany.
APHP Department of Genetics Groupe Hospitalier Pitié-Salpêtrière Paris France.
Mov Disord Clin Pract. 2016 Feb 11;3(3):230-240. doi: 10.1002/mdc3.12315. eCollection 2016 May-Jun.
Hereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. They may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. There are an increasing number of clinical studies with the goal to define the natural history of these disorders, develop biomarkers, and investigate therapeutic interventions. Especially, early and preclinical disease stages are currently of particular interest.
Evidence-based, we review standards for sampling and storage of biomaterials, clinical and neuropsychological assessment, as well as neurophysiology and neuroimaging and recommendations for standardized assessment of ataxia patients in multicenter studies.
DNA, RNA, serum, and, if possible, cerebrospinal fluid samples should be processed following established standards. Clinical assessment in ataxia studies must include use of a validated clinical ataxia scale. There are several validated clinical ataxia scales available. There are no instruments that were specifically designed for assessing neuropsychological and psychiatric symptoms in ataxia disorders. We provide a list of tests that may prove valuable. Quantitative performance tests have the potential to supplement clinical scales. They provide additional objective and quantitative information. Posturography and quantitative movement analysis-despite valid approaches-require standardization before implemented in multicenter studies. Standardization of neurophysiological tools, as required for multicenter interventional trials, is still lacking. Future multicenter neuroimaging studies in ataxias should implement quality assurance measures as defined by the ADNI or other consortia. MRI protocols should allow morphometric analyses.
遗传性共济失调是一组小脑、脑干和脊髓的退行性疾病，具有异质性。它们可能仅表现为共济失调，或伴有小脑功能缺损以外的其他症状。为了明确这些疾病的自然史、开发生物标志物并研究治疗干预措施，临床研究的数量日益增多。特别是，疾病的早期和临床前阶段目前尤为受到关注。
基于循证医学，我们回顾了生物材料的采样和储存标准、临床及神经心理学评估，以及神经生理学和神经影像学，并给出了多中心研究中对共济失调患者进行标准化评估的建议。
DNA、RNA、血清以及脑脊液样本（如有可能）应按照既定标准进行处理。共济失调研究中的临床评估必须包括使用经过验证的临床共济失调量表。现有多种经过验证的临床共济失调量表。目前尚无专门用于评估共济失调疾病中神经心理学和精神症状的工具。我们提供了一份可能有价值的测试清单。定量性能测试有可能补充临床量表，它们能提供额外的客观和定量信息。姿势描记法和定量运动分析——尽管是有效的方法——在多中心研究中实施之前需要进行标准化。多中心干预试验所需的神经生理学工具的标准化仍然缺乏。未来针对共济失调的多中心神经影像学研究应实施由阿尔茨海默病神经影像学计划（ADNI）或其他联盟定义的质量保证措施。MRI协议应允许进行形态计量分析。
