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脊髓小脑共济失调2型中几种评定量表的NESSCA验证及反应性

NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.

作者信息

Monte Thais L, Reckziegel Estela R, Augustin Marina C, Silva Amanda S P, Locks-Coelho Lucas D, Barsottini Orlando, Pedroso José L, Vargas Fernando R, Saraiva-Pereira Maria-Luiza, Leotti Vanessa Bielefeldt, Jardim Laura Bannach

机构信息

Serviço de Neurologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.

Programa de Pós-Graduação em Ciências Médicas, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

出版信息

Cerebellum. 2017 Aug;16(4):852-858. doi: 10.1007/s12311-017-0855-8.

Abstract

Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological manifestations are required. This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be used in SCA2 and to compare its responsiveness to those obtained with other instruments. NESSCA, SARA, SCAFI, and CCFS scales were applied in symptomatic SCA2 patients. Correlations were done with age at onset, disease duration, CAGexp, and between scales. Responsiveness was estimated by comparing deltas of stable to worse patients after 12 months, according to Patient Global Impression of change, and the area under the curve (AUC) of the Receiver Operating Characteristics curve of scores range. Eighty-eight evaluations (49 patients) were obtained. NESSCA had an even distribution and correlated with disease duration (r = 0.55), SARA (r = 0.63), and CAGexp (rho = 0.32): both explained 44% of NESSCA variance. Deltas (95% CI) after 1 year in stable and worse patients were only significantly different for SARA. NESSCA, SARA, SCAFI, and CCFS AUC were 0.63, 0.81, 0.49, and 0.48, respectively. NESSCA is valid to be used in SCA2. However, the only instrument that presented good responsiveness to change in 1 year was SARA. We suggest that NESSCA can be used as a secondary outcome in future trials in SCA2 due to the burden of neurological disabilities related to disease progression.

摘要

2型脊髓小脑共济失调(SCA2)由ATXN2基因中的CAG重复扩增(CAGexp)引起,临床表现复杂。虽然有经过验证的共济失调量表,但仍需要能够全面测量SCA2所有神经学表现的综合工具。本研究旨在验证用于评估脊髓小脑共济失调的神经学检查评分(NESSCA)在SCA2中的应用,并将其反应性与其他工具的反应性进行比较。对有症状的SCA2患者应用NESSCA、SARA、SCAFI和CCFS量表。分析了这些量表与发病年龄、病程、CAGexp之间的相关性以及各量表之间的相关性。根据患者整体变化印象,通过比较12个月后病情稳定和恶化患者的评分差值,以及评分范围的受试者工作特征曲线下面积(AUC)来评估反应性。共获得88次评估(49例患者)。NESSCA分布均匀,与病程(r = 0.55)、SARA(r = 0.63)和CAGexp(rho = 0.32)相关:二者共同解释了NESSCA变异的44%。仅SARA量表显示,病情稳定和恶化患者1年后的评分差值(95%CI)有显著差异。NESSCA、SARA、SCAFI和CCFS的AUC分别为0.63、0.81、0.49和0.48。NESSCA可用于SCA2。然而,在1年内对变化表现出良好反应性的唯一工具是SARA。由于疾病进展导致的神经功能障碍负担,我们建议NESSCA可作为未来SCA2试验的次要结局指标。

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