A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
Kenichi Yasui,Ichiro Yabe,Kunihiro Yoshida,Kazuaki Kanai,Kimihito Arai,Mizuki Ito,Osamu Onodera,Shigeru Koyano,Eiji Isozaki,Setsu Sawai,Yoshiki Adachi,Hidenao Sasaki,Satoshi Kuwabara,Takamichi Hattori,Gen Sobue,Hidehiro Mizusawa,Shoji Tsuji,Masatoyo Nishizawa,Kenji Nakashima +18 more
TLDR
Information regarding the progression of ataxia and the decline in the activities of daily living in patients with SCA6 was obtained by a 3-year cohort study and a 7-year IDR study.Abstract:
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. 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. 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. 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.read more
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Journal ArticleDOI
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Heike Jacobi,Sophie Tezenas du Montcel,Peter Bauer,Paola Giunti,Arron Cook,Robyn Labrum,Michael H Parkinson,Alexandra Durr,Alexis Brice,Perrine Charles,Cecilia Marelli,Caterina Mariotti,Lorenzo Nanetti,Marta Panzeri,Maria Rakowicz,Anna Sulek,Anna Sobanska,Tanja Schmitz-Hübsch,Ludger Schöls,Ludger Schöls,Holger Hengel,Holger Hengel,Laszlo Baliko,Béla Melegh,Alessandro Filla,Antonella Antenora,Jon Infante,José Berciano,Bart P.C. van de Warrenburg,Dagmar Timmann,Sandra Szymanski,Sylvia Boesch,Jun Suk Kang,Massimo Pandolfo,Jörg B. Schulz,Sonia Molho,Alhassane Diallo,Thomas Klockgether,Thomas Klockgether +38 more
TL;DR: This study provides quantitative data on the progression of the most common spinocerebellar ataxias based on a follow-up period that exceeds those of previous studies and could prove useful for sample size calculation and patient stratification in interventional trials.
Journal ArticleDOI
Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer
Akira Matsushima,Kunihiro Yoshida,Genno Hirokazu,Asuka Murata,Setsuko Matsuzawa,Katsuya Nakamura,Akinori Nakamura,Shu-ichi Ikeda +7 more
TL;DR: Various parameters obtained by a triaxial accelerometer can be sensitive and objective markers for the assessment and follow-up of standing and gait impairment in ataxic patients.
Journal ArticleDOI
Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis
Alhassane Diallo,Heike Jacobi,Sophie Tezenas du Montcel,Thomas Klockgether,Thomas Klockgether +4 more
TL;DR: A meta-analysis of literature provides quantitative data on the progression of the most common spinocerebellar ataxias based on patient numbers that exceed those of previous studies and confirms that disease progression is faster in SCA1, intermediate inSCA2 and SCA3 and slower in SCa6.
Journal ArticleDOI
Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.
Katsuya Nakamura,Kunihiro Yoshida,Akira Matsushima,Yusaku Shimizu,Shunichi Sato,Hiroyuki Yahikozawa,Shinji Ohara,Masanobu Yazawa,Masao Ushiyama,Mitsuto Sato,Hiroshi Morita,Atsushi Inoue,Shu-ichi Ikeda +12 more
TL;DR: The prospective dataset provides important information for clinical trials of forthcoming disease-modifying therapies for cerebellar ataxia and represents a useful resource for SCA31 patients and their family members in genetic counseling sessions.
Journal ArticleDOI
Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials
TL;DR: Rovatirelin is a potentially effective treatment option for SCD and was performed in patients who met the SARA recruitment criteria of KPS1305, and Pooled analysis showed no significant difference between rov atirelin and placebo in these two studies.
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