The Cerebellum

, Volume 16, Issue 4, pp 852–858 | Cite as

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

  • 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
  • Vanessa Bielefeldt Leotti
  • Laura Bannach Jardim
  • on behalf of Rede Neurogenética
Original Paper

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.

Keywords

Neurological Examination Score for Spinocerebellar Ataxia NESSCA SARA SCAFI SCA2 Spinocerebellar ataxia type 2 

Notes

Acknowledgements

The authors would like to thank the families who agreed to participate in this study. This work was supported by the following Brazilian agencies: CNPq—Conselho Nacional de Desenvolvimento Científico e Tecnológico—by the Project 78057/2012-1, FIPE-HCPA—Fundo de Incentivo à Pesquisa do Hospital de Clínicas de Porto Alegre—by the Projects GPPG HCPA 12-0357 and 12-0396, and by INAGEMP—Instituto Nacional de Genética Médica Populacional. M.A. and L.D.L.C. were supported by FAPERGS. ERR, MA, ASPS, MLSP, and LBJ were supported by CNPq.

Authors’ Contributions

1. Research project: (A) conception, (B) organization, (C) execution. 2. Statistical analysis: (A) design, (B) execution, (C) review and critique. 3. Manuscript preparation: (A) writing of the first draft, (B) review and critique.

T.L.M.: 1 B and C; 2 C; 3 B. E.R.R.: 1 C; 3 B. M.A.: 1 C; 3 B. A.S.P.S.: 1 C; 3 B. L.D.L.C.: 1 C; 3 B. O.B.: 1 C; 3 B. J.L.P.: 1 C; 3 B. F.R.V.: 1 C; 3 B. M.L.S.P.: 1 C; 3 B. V.B.L.T.: 1 B; 2 A, B, and C; 3B. L.B.J.: 1 A and B; 2 A and C; 3 A and B.

Compliance with Ethical Standards

Conflict of Interest and Financial Disclosure Related to Research

The authors report no disclosures.

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Thais L. Monte
    • 1
    • 2
  • Estela R. Reckziegel
    • 3
  • Marina C. Augustin
    • 3
  • Amanda S. P. Silva
    • 3
  • Lucas D. Locks-Coelho
    • 3
  • Orlando Barsottini
    • 4
  • José L. Pedroso
    • 4
  • Fernando R. Vargas
    • 5
    • 6
  • Maria-Luiza Saraiva-Pereira
    • 7
    • 8
    • 9
    • 14
  • Vanessa Bielefeldt Leotti
    • 10
    • 11
  • Laura Bannach Jardim
    • 2
    • 7
    • 8
    • 11
    • 12
    • 13
    • 14
  • on behalf of Rede Neurogenética
  1. 1.Serviço de NeurologiaHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  2. 2.Programa de Pós-Graduação em Ciências MédicasUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  3. 3.Faculdade de MedicinaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  4. 4.Setor de Neurologia Geral e Ataxias, Disciplina de Neurologia Clínica da UNIFESP—Escola Paulista de MedicinaUniversidade Federal de São PauloSão PauloBrazil
  5. 5.Laboratório de Epidemiologia de Malformações CongênitasFundação Oswaldo CruzRio de JaneiroBrazil
  6. 6.Departamento de Genética e Biologia MolecularUniversidade Federal do Estado do Rio de JaneiroRio de JaneiroBrazil
  7. 7.Serviço de Genética MédicaHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  8. 8.Laboratório de Identificação GenéticaHospital de Clínicas de Porto AlegrePorto AlegreBrazil
  9. 9.Departamento de BioquímicaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  10. 10.Departamento de Matemática e EstatísticaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  11. 11.Programa de Pós-Graduação em EpidemiologiaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  12. 12.Departamento de Medicina InternaUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  13. 13.Instituto Nacional de Genética Médica Populacional INAGEMPPorto AlegreBrazil
  14. 14.Medical Genetics ServiceHospital de Clínicas de Porto AlegrePorto AlegreBrazil

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