Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study.
Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this prospective cohort study, we enrolled 44 patients (mean ± standard deviation 73.6 ± 8.5 years) with genetically confirmed SCA31 from 10 ataxia referral centers in the Nagano area, Japan. Patients were evaluated every year for 4 years using the Scale for the Assessment and Rating of Ataxia (SARA) and the Barthel Index (BI). Of the 176 follow-up visits (91.5%), 161 were completed in this study. Five patients (11.4%) died during the follow-up period, and two patients (4.5%) were lost to follow-up. The annual progression of the SARA score was 0.8 ± 0.1 points/year and that of the BI was -2.3 ± 0.4 points/year (mean ± standard error). Shorter disease duration at baseline was associated with faster progression of the SARA score. Our study indicated the averaged clinical course of SCA31 as follows: the patients develop ataxic symptoms at 58.5 ± 10.3 years, become wheelchair bound at 79.4 ± 1.7 years, and died at 88.5 ± 0.7 years. Our prospective dataset provides important information for clinical trials of forthcoming disease-modifying therapies for cerebellar ataxia. It also represents a useful resource for SCA31 patients and their family members in genetic counseling sessions.
Division of Clinical and Molecular Genetics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.|Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Katsuya
K
Nakamura
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. kyoshida@shinshu-u.ac.jp.|Division of Neurogenetics, Department of Brain Disease Research, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. kyoshida@shinshu-u.ac.jp.
Kunihiro
K
Yoshida
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.|Department of Neurology, Kakeyu-Misayama Rehabilitation Center, 1308 Kakeyu-onsen, Ueda, 386-0396, Japan.
Akira
A
Matsushima
Department of Neurology, Ina Central Hospital, 1313-1, Ina, 396-8555, Japan.
Yusaku
Y
Shimizu
Department of Neurology, Nagano Red Cross Hospital, Wakasato 5-22-1, Nagano, 380-8582, Japan.
Shunichi
S
Sato
Department of Neurology, Nagano Red Cross Hospital, Wakasato 5-22-1, Nagano, 380-8582, Japan.
Hiroyuki
H
Yahikozawa
Department of Neurology, Matsumoto Medical Center, Chushin-Matsumoto Hospital, Kotobuki 811, Matsumoto, 390-0021, Japan.
Shinji
S
Ohara
Department of Neurology, Fujimi-kogen Medical Center, Fujimi-kogen Hospital, 11100 Ochiai, Fujimi, 399-0214, Japan.
Masanobu
M
Yazawa
Department of Neurology, Kenwakai Hospital, 1936 Kanaenakadaira, Iida, 395-8522, Japan.
Masao
M
Ushiyama
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Mitsuto
M
Sato
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Hiroshi
H
Morita
Department of Neurology, Nagano Prefectural Kiso Hospital, 6613-4, Fukushima, Kiso, 397-8555, Japan.
Atsushi
A
Inoue
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan.
Shu-Ichi
SI
Ikeda
D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D018450:Disease Progression; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007564:Japan; D053208:Kaplan-Meier Estimate; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D011446:Prospective Studies; D012044:Regression Analysis; D012720:Severity of Illness Index; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology* / Q000534:rehabilitation; D013997:Time Factors; D014910:Wheelchairs
Barthel index; Natural history; Scale for the assessment and rating of ataxia (SARA); Spinocerebellar ataxia type 31 (SCA31)