共济失调评定量表和小脑功能测试的评估：批评和建议,Movement Disorders

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共济失调评定量表和小脑功能测试的评估：批评和建议
Movement Disorders ( IF 7.4 ) Pub Date : 2020-10-06 , DOI: 10.1002/mds.28313
Santiago Perez-Lloret _{1,

2,

3} , Bart van de Warrenburg ₄ , Malco Rossi ₅ , Carmen Rodríguez-Blázquez ₆ , Theresa Zesiewicz ₇ , Jonas A M Saute _{8,

9,

10,

11} , Alexandra Durr ₁₂ , Masatoyo Nishizawa ₁₃ , Pablo Martinez-Martin ₁₄ , Glenn T Stebbins ₁₅ , Anette Schrag ₁₆ , Matej Skorvanek _{17,

18} ,

Affiliation

National Research Council (CAECIHS-UAI, CONICET), Buenos Aires, Argentina.
Faculty of Medicine, Pontifical Catholic University of Argentina, Buenos Aires, Argentina.
Department of Physiology, Faculty of Medicine, University of Buenos Aires, Buenos Aires, Argentina.
Donders Institute for Brain, Cognition and Behavior, Department of Neurology, Center of Expertise for Parkinson and Movement Disorders, Radboud University Medical Center, Nijmegen, the Netherlands.
Movement Disorders Section, Raul Carrea Institute for Neurological Research, Buenos Aires, Argentina.
National Centre of Epidemiology, Institute of Health Carlos III and CIBERNED, Madrid, Spain.
Department of Neurology, University of South Florida, Tampa, Florida, USA.
Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Neurology Division, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
Brain Research Institute, Niigata University, Niigata, Japan.
Center for Networked Biomedical Research in Neurodegenerative Diseases (CIBERNED), Carlos III Institute of Health, Madrid, Spain.
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
Department of Clinical Neurosciences, UCL Institute of Neurology, Royal Free Campus, London, United Kingdom.
Department of Neurology, Faculty of Medicine, P. J. Safarik University, Kosice, Slovak Republic.
Department of Neurology, University Hospital L. Pasteur, Kosice, Slovak Republic.

背景我们评估了共济失调量表和功能测试的临床特性，并就其使用提出了建议。方法进行系统的文献检索以确定用于评估共济失调症状的工具。已确定的评定量表和功能能力测试由专家组审查并排名为“推荐”、“建议”或“列出”，用于评估患有离散小脑疾病的患者，使用先前建立的标准。结果我们审查了 14 种仪器（9 个评定量表和 5 个功能测试）。用于评估症状严重程度的“推荐”评定量表是：弗里德赖希共济失调、弗里德赖希共济失调评定量表、国际合作共济失调评定量表 (ICARS)、以及共济失调评估和评定量表（SARA）；用于脊髓小脑共济失调、ICARS 和 SARA；共济失调毛细血管扩张症：ICARS 和 SARA；对于脑肿瘤，SARA；用于糖基化-磷酸甘露糖变酶-2 缺乏症的先天性疾病，ICARS；对于多发性硬化症的小脑症状，ICARS；多系统萎缩的小脑症状：统一多系统萎缩评定量表和 ICARS；对于脆性 X 相关震颤共济失调综合征，ICARS。“推荐的”功能测试是：Friedreich 共济失调、共济失调功能综合评分和小脑功能严重程度综合评分；对于脊髓小脑共济失调，共济失调功能综合评分、小脑功能严重程度综合评分和 SCA 功能指数。结论我们确定了一些“推荐” 用于评估患有主要遗传性共济失调和其他小脑疾病的患者的量表和功能测试。这些仪器的主要局限性包括对更严重的患者和儿童的有限评估。有必要对这些人群进行进一步的研究。© 2020 国际帕金森和运动障碍协会。

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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

BACKGROUND We assessed the clinimetric properties of ataxia rating scales and functional tests, and made recommendations regarding their use. METHODS A systematic literature search was conducted to identify the instruments used to rate ataxia symptoms. The identified rating scales and functional ability tests were reviewed and ranked by the panel as "recommended," "suggested," or "listed" for the assessment of patients with discrete cerebellar disorders, using previously established criteria. RESULTS We reviewed 14 instruments (9 rating scales and 5 functional tests). "Recommended" rating scales for the assessment of symptoms severity were: for Friedreich's ataxia, the Friedreich's Ataxia Rating Scale, the International Cooperative Ataxia Rating Scale (ICARS), and the Scale for the Assessment and Rating of Ataxia (SARA); for spinocerebellar ataxias, ICARS and SARA; for ataxia telangiectasia: ICARS and SARA; for brain tumors, SARA; for congenital disorder of glycosylation-phosphomannomutase-2 deficiency, ICARS; for cerebellar symptoms in multiple sclerosis, ICARS; for cerebellar symptoms in multiple system atrophy: Unified Multiple System Atrophy Rating Scale and ICARS; and for fragile X-associated tremor ataxia syndrome, ICARS. "Recommended" functional tests were: for Friedreich's ataxia, Ataxia Functional Composite Score and Composite Cerebellar Functional Severity Score; and for spinocerebellar ataxias, Ataxia Functional Composite Score, Composite Cerebellar Functional Severity Score, and SCA Functional Index. CONCLUSIONS We identified some "recommended" scales and functional tests for the assessment of patients with major hereditary ataxias and other cerebellar disorders. The main limitations of these instruments include the limited assessment of patients in the more severe end of the spectrum and children. Further research in these populations is warranted. © 2020 International Parkinson and Movement Disorder Society.

更新日期：2020-10-06

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