Literature DB >> 28456900

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

Thais L Monte1,2, Estela R Reckziegel3, Marina C Augustin3, Amanda S P Silva3, Lucas D Locks-Coelho3, Orlando Barsottini4, José L Pedroso4, Fernando R Vargas5,6, Maria-Luiza Saraiva-Pereira7,8,9,10, Vanessa Bielefeldt Leotti11,12, Laura Bannach Jardim13,14,15,16,17,18,19.   

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.

Entities:  

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

Mesh:

Year:  2017        PMID: 28456900     DOI: 10.1007/s12311-017-0855-8

Source DB:  PubMed          Journal:  Cerebellum        ISSN: 1473-4222            Impact factor:   3.847


  26 in total

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Journal:  Neurology       Date:  2011-08-10       Impact factor: 9.910

2.  Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

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3.  Responsiveness of different rating instruments in spinocerebellar ataxia patients.

Authors:  T Schmitz-Hübsch; R Fimmers; M Rakowicz; R Rola; E Zdzienicka; R Fancellu; C Mariotti; C Linnemann; L Schöls; D Timmann; A Filla; E Salvatore; J Infante; P Giunti; R Labrum; B Kremer; B P C van de Warrenburg; L Baliko; B Melegh; C Depondt; J Schulz; S Tezenas du Montcel; T Klockgether
Journal:  Neurology       Date:  2010-02-23       Impact factor: 9.910

Review 4.  Epidemiology and population genetics of degenerative ataxias.

Authors:  Jorge Sequeiros; Sandra Martins; Isabel Silveira
Journal:  Handb Clin Neurol       Date:  2012

5.  Cognitive deficits in spinocerebellar ataxia 2.

Authors:  K Bürk; C Globas; S Bösch; S Gräber; M Abele; A Brice; J Dichgans; I Daum; T Klockgether
Journal:  Brain       Date:  1999-04       Impact factor: 13.501

6.  Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.

Authors:  G Cancel; A Dürr; O Didierjean; G Imbert; K Bürk; A Lezin; S Belal; A Benomar; M Abada-Bendib; C Vial; J Guimarães; H Chneiweiss; G Stevanin; G Yvert; N Abbas; F Saudou; A S Lebre; M Yahyaoui; F Hentati; J C Vernant; T Klockgether; J L Mandel; Y Agid; A Brice
Journal:  Hum Mol Genet       Date:  1997-05       Impact factor: 6.150

7.  Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.

Authors:  H Jacobi; M Rakowicz; R Rola; R Fancellu; C Mariotti; P Charles; A Dürr; M Küper; D Timmann; C Linnemann; L Schöls; O Kaut; C Schaub; A Filla; L Baliko; B Melegh; J-S Kang; P Giunti; B P C van de Warrenburg; R Fimmers; T Klockgether
Journal:  Cerebellum       Date:  2013-06       Impact factor: 3.847

8.  Huntington disease and Huntington disease-like in a case series from Brazil.

Authors:  R M Castilhos; A F D Souza; G V Furtado; T C Gheno; A L Silva; F R Vargas; M-A F D Lima; O Barsottini; J L Pedroso; C Godeiro; D Salarini; E T Pereira; K Lin; M-B Toralles; J A M Saute; C R Rieder; M Quintas; J Sequeiros; I Alonso; M L Saraiva-Pereira; L B Jardim
Journal:  Clin Genet       Date:  2013-10-17       Impact factor: 4.438

9.  Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction.

Authors:  E Storey; S M Forrest; J H Shaw; P Mitchell; R J Gardner
Journal:  Arch Neurol       Date:  1999-01

10.  Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.

Authors:  Raphael Machado de Castilhos; Gabriel Vasata Furtado; Tailise Conte Gheno; Paola Schaeffer; Aline Russo; Orlando Barsottini; José Luiz Pedroso; Diego Z Salarini; Fernando Regla Vargas; Maria Angélica de Faria Domingues de Lima; Clécio Godeiro; Luiz Carlos Santana-da-Silva; Maria Betânia Pereira Toralles; Silvana Santos; Hélio van der Linden; Hector Yuri Wanderley; Paula Frassineti Vanconcelos de Medeiros; Eliana Ternes Pereira; Erlane Ribeiro; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim
Journal:  Cerebellum       Date:  2014-02       Impact factor: 3.847

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Journal:  Nat Rev Neurol       Date:  2018-10       Impact factor: 42.937

Review 2.  Rating scales and biomarkers for CAG-repeat spinocerebellar ataxias: Implications for therapy development.

Authors:  Meng-Ling Chen; Chih-Chun Lin; Liana S Rosenthal; Puneet Opal; Sheng-Han Kuo
Journal:  J Neurol Sci       Date:  2021-04-01       Impact factor: 3.181

3.  Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.

Authors:  Taiane Alves Vieira; Franciele Barbosa Trapp; Carolina Fischinger Moura de Souza; Lavínia Schuler Faccini; Laura Bannach Jardim; Ida Vanessa Doederlein Schwartz; Mariluce Riegel; Carmen Regla Vargas; Maira Graeff Burin; Sandra Leistner-Segal; Patrícia Ashton-Prolla; Roberto Giugliani
Journal:  Genet Mol Biol       Date:  2019-06-10       Impact factor: 1.771

4.  The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.

Authors:  Thais Lampert Monte; Estela da Rosa Reckziegel; Marina Coutinho Augustin; Lucas D Locks-Coelho; Amanda Senna P Santos; Gabriel Vasata Furtado; Eduardo Preusser de Mattos; José Luiz Pedroso; Orlando Póvoas Barsottini; Fernando Regla Vargas; Maria-Luiza Saraiva-Pereira; Suzi Alves Camey; Vanessa Bielefeldt Leotti; Laura Bannach Jardim
Journal:  Orphanet J Rare Dis       Date:  2018-01-25       Impact factor: 4.123

  4 in total

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