TY - JOUR
T1 - A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
AU - Yasui, Kenichi
AU - Yabe, Ichiro
AU - Yoshida, Kunihiro
AU - Kanai, Kazuaki
AU - Arai, Kimihito
AU - Ito, Mizuki
AU - Onodera, Osamu
AU - Koyano, Shigeru
AU - Isozaki, Eiji
AU - Sawai, Setsu
AU - Adachi, Yoshiki
AU - Sasaki, Hidenao
AU - Kuwabara, Satoshi
AU - Hattori, Takamichi
AU - Sobue, Gen
AU - Mizusawa, Hidehiro
AU - Tsuji, Shoji
AU - Nishizawa, Masatoyo
AU - Nakashima, Kenji
N1 - Publisher Copyright:
© 2014 Yasui et al.; licensee Biomedcentral Ltd.
PY - 2014/7/23
Y1 - 2014/7/23
N2 - Background: Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was conducted to clarify both the natural history of SCA6 in Japan and the factors influencing disease progression. Methods. Patients were consecutively recruited between 2007 and 2008. Scores from the Scale for the Assessment and Rating of Ataxia (SARA) and Barthel Index (BI) were collected prospectively each year. Additionally, data from the Japan intractable diseases research (IDR) registry were collected both retrospectively, from 2003 to 2006, and prospectively, from 2007 to 2010. As a result, we were able to collect 3 years of retrospective data and 4 years of prospective data during the course of 3 yearly visits. Results: Forty-six patients were registered. The follow-up rate of the third year was 93%. The SARA scores worsened significantly each year. Over 3 years, the decline of the SARA scores was 1.33 ± 1.40 points/year. The results of multivariate analysis of the decline of the SARA score were not significant. The IDR scores correlated well with the SARA and BI scores. Kaplan-Meier curves of 7 years of data from the IDR registry illustrated the correlation between the ability to walk and the time course of the disease. Conclusions: Information regarding the progression of ataxia and the decline in the activities of daily living (ADL) in patients with SCA6 was obtained by a 3-year cohort study and a 7-year IDR study. The decline of the SARA score of patients with SCA6 was 1.33 ± 1.40 points/year. The results elucidate the natural history of SCA6, factors influencing disease severity, and utility of data from the IDR registry of Japan.
AB - Background: Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was conducted to clarify both the natural history of SCA6 in Japan and the factors influencing disease progression. Methods. Patients were consecutively recruited between 2007 and 2008. Scores from the Scale for the Assessment and Rating of Ataxia (SARA) and Barthel Index (BI) were collected prospectively each year. Additionally, data from the Japan intractable diseases research (IDR) registry were collected both retrospectively, from 2003 to 2006, and prospectively, from 2007 to 2010. As a result, we were able to collect 3 years of retrospective data and 4 years of prospective data during the course of 3 yearly visits. Results: Forty-six patients were registered. The follow-up rate of the third year was 93%. The SARA scores worsened significantly each year. Over 3 years, the decline of the SARA scores was 1.33 ± 1.40 points/year. The results of multivariate analysis of the decline of the SARA score were not significant. The IDR scores correlated well with the SARA and BI scores. Kaplan-Meier curves of 7 years of data from the IDR registry illustrated the correlation between the ability to walk and the time course of the disease. Conclusions: Information regarding the progression of ataxia and the decline in the activities of daily living (ADL) in patients with SCA6 was obtained by a 3-year cohort study and a 7-year IDR study. The decline of the SARA score of patients with SCA6 was 1.33 ± 1.40 points/year. The results elucidate the natural history of SCA6, factors influencing disease severity, and utility of data from the IDR registry of Japan.
KW - Barthel Index
KW - CAG repeat
KW - International Cooperative Ataxia Rating Scale
KW - Intractable diseases research
KW - Scale for the Assessment and Rating of Ataxia
KW - Spinocerebellar ataxia
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U2 - 10.1186/s13023-014-0118-4
DO - 10.1186/s13023-014-0118-4
M3 - Article
C2 - 25053188
AN - SCOPUS:84906572765
SN - 1750-1172
VL - 9
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 118
ER -