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

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

Author Monte, Thais Lampert Google Scholar
Reckziegel, Estela da Rosa Google Scholar
Augustin, Marina Coutinho Google Scholar
Locks-Coelho, Lucas D. Google Scholar
Santos, Amanda Senna P. Google Scholar
Furtado, Gabriel Vasata Google Scholar
de Mattos, Eduardo Preusser Google Scholar
Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Barsottini, Orlando Povoas Autor UNIFESP Google Scholar
Vargas, Fernando Regla Google Scholar
Saraiva-Pereira, Maria-Luiza Google Scholar
Camey, Suzi Alves Google Scholar
Leotti, Vanessa Bielefeldt Google Scholar
Jardim, Laura Bannach Google Scholar
Abstract Background: Spinocerebellar ataxia type 2 (SCA2) affects several neurological structures, giving rise to multiple symptoms. However, only the natural history of ataxia is well known, as measured during the study duration. We aimed to describe the progression rate of ataxia, by the Scale for the Assessment and Rating of Ataxia (SARA), as well as the progression rate of the overall neurological picture, by the Neurological Examination Score for Spinocerebellar Ataxias (NESSCA), and not only during the study duration but also in a disease duration model. Comparisons between these models might allow us to explore whether progression is linear during the disease duration in SCA2

and to look for potential modifiers. Results: Eighty-eight evaluations were prospectively done on 49 symptomatic subjects

on average (SD), study duration and disease duration models covered 13 (2.16) months and 14 (6.66) years of individuals' life, respectively. SARA progressed 1.75 (CI 95%: 0.92-2.57) versus 0.79 (95% CI 0.45 to 1.14) points/year in the study duration and disease duration models. NESSCA progressed 1.45 (CI 95%: 0.74-2.16) versus 0.41 (95% CI 0.24 to 0.59) points/year in the same models. In order to explain these discrepancies, the progression rates of the study duration model were plotted against disease duration. Then an acceleration was detected after 10 years of disease duration: SARA scores progressed 0.35 before and 2.45 points/year after this deadline (p = 0.013). Age at onset, mutation severity, and presence of amyotrophy, parkinsonism, dystonic manifestations and cognitive decline at baseline did not influence the rate of disease progression. Conclusions: NESSCA and SARA progression rates were not constant during disease duration in SCA2: early phases of disease were associated with slower progressions. Modelling of future clinical trials on SCA2 should take this phenomenon into account, since disease duration might impact on inclusion criteria, sample size, and study duration. Our database is available online and accessible to future studies aimed to compare the present data with other cohorts.
Keywords Natural history
Progression rate
Spinocerebellar ataxia type 2
xmlui.dri2xhtml.METS-1.0.item-coverage London
Language English
Sponsor CNPq - Conselho Nacional de Desenvolvimento Cientifico e Tecnologico [78,057/2012-1]
FIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre [GPPG HCPA 12-0357, 12-0396]
Grant number CNPq: 78,057/2012-1]
FIPE-HCPA: GPPG HCPA 12-0357, 12-0396
Date 2018
Published in Orphanet Journal Of Rare Diseases. London, v. 13, p. -, 2018.
ISSN 1750-1172 (Sherpa/Romeo, impact factor)
Publisher Biomed Central Ltd
Extent -
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000423688500001

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