NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2 |
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| Authors: | Thais?L?Monte Estela?R?Reckziegel Marina?C?Augustin Amanda?S?P?Silva Lucas?D?Locks-Coelho Orlando?Barsottini José?L?Pedroso Fernando?R?Vargas Maria-Luiza?Saraiva-Pereira " target="_blank">Laura?Bannach?Jardim |
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| Institution: | 1.Servi?o de Neurologia,Hospital de Clínicas de Porto Alegre,Porto Alegre,Brazil;2.Programa de Pós-Gradua??o em Ciências Médicas,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil;3.Faculdade de Medicina,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil;4.Setor de Neurologia Geral e Ataxias, Disciplina de Neurologia Clínica da UNIFESP—Escola Paulista de Medicina,Universidade Federal de S?o Paulo,S?o Paulo,Brazil;5.Laboratório de Epidemiologia de Malforma??es Congênitas,Funda??o Oswaldo Cruz,Rio de Janeiro,Brazil;6.Departamento de Genética e Biologia Molecular,Universidade Federal do Estado do Rio de Janeiro,Rio de Janeiro,Brazil;7.Servi?o de Genética Médica,Hospital de Clínicas de Porto Alegre,Porto Alegre,Brazil;8.Laboratório de Identifica??o Genética,Hospital de Clínicas de Porto Alegre,Porto Alegre,Brazil;9.Departamento de Bioquímica,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil;10.Departamento de Matemática e Estatística,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil;11.Programa de Pós-Gradua??o em Epidemiologia,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil;12.Departamento de Medicina Interna,Universidade Federal do Rio Grande do Sul,Porto Alegre,Brazil;13.Instituto Nacional de Genética Médica Populacional INAGEMP,Porto Alegre,Brazil;14.Medical Genetics Service,Hospital de Clínicas de Porto Alegre,Porto Alegre,Brazil |
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| 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. |
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