Balance and physical functioning in Spinocerebellar ataxias 3 and 10.
SCA10
SCA3
balance
motor functionality
spinocerebellar ataxia
Journal
Acta neurologica Scandinavica
ISSN: 1600-0404
Titre abrégé: Acta Neurol Scand
Pays: Denmark
ID NLM: 0370336
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
07
09
2020
revised:
08
11
2020
accepted:
24
11
2020
pubmed:
1
12
2020
medline:
11
5
2021
entrez:
30
11
2020
Statut:
ppublish
Résumé
Limitations of functional capacity and balance are common features of the natural history of spinocerebellar ataxias (SCA). However, their onset and progression patterns differ according to subtype. The aim of our study was to compare physical functionality and balance parameters in SCA10 and SCA3 patients, correlating with clinical variables. Cross-sectional study evaluating ninety-five SCA patients (60 with SCA3 and 35 with SCA10) with validated scales for functional independence, balance and the severity of signs and symptoms. The groups were similar in terms of age and gender, and results were adjusted for age at symptom onset. The SCA10 patients had better results for balance and functional independence (p < 0.007). They also had lower scores for disease severity (p < 0.0002) and the subitems gait (p < 0.0005), posture (p < 0.0021) and sitting balance (p < 0.0008). Symptom progression in both groups was similar for patients with a disease duration of up to ten years, but there was a more marked decline in SCA3 patients after this period. We have shown that disease progression as assessed by balance and physical functioning is slower in SCA10 patients than SCA3 patients, particularly after 10 years of disease. These findings are important as they can help to characterize the disease, assisting in the development of new therapies and rehabilitation programs.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
458-463Informations de copyright
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Aizawa CYP, Pedroso JL, Braga-Neto P, et al. Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function. Arq Neuropsiquiatr. 2013;71(8):508-511.
Miyai I, Ito M, Hattori N, et al. Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases. Neurorehabil Neural Repair. 2012;26(5):515-522.
Teive HAG, Ashizawa T. Primary and secondary ataxias. Curr Opin Neurol. 2015;28(4):413-422.
Klockgether T, Lüdtke R, Kramer B, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain J Neurol. 1998;121(Pt 4):589-600.
Schmitz-Hübsch T, Fimmers R, Rakowicz M, et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology. 2010;74(8):678-684.
Matsuura T, Yamagata T, Burgess DL, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26(2):191-194.
Lin X, Ashizawa T. Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum. 2005;4(1):37-42.
Teive HAG, Munhoz RP, Arruda WO, Raskin S, Werneck LC, Ashizawa T. Spinocerebellar ataxia type 10 - A review. Parkinsonism Relat Disord. 2011;17(9):655-661.
Fonteyn EM, Schmitz-Hubsch T, Verstappen CC, et al. Falls in spinocerebellar ataxias: results of the EuroSCA fall study. Cerebellum. 2010;9(2):232-239.
Schmitz-Hübsch T, Giunti P, Stephenson DA, et al. SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia. Neurology. 2008;71(7):486-492.
Devinski O, Cramer J. Development of the quality of life in epilepsy inventory. Epilepsia. 1995;36(11):1089-1104.
Braga-Neto P, Godeiro-Junior C, Dutra LA, Pedroso JL, Barsottini OGP. Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA). Arq Neuropsiquiatr. 2010;68(2):228-230.
Miyamoto ST, Lombardi Junior I, Berg KO, Ramos LR, Natour J. Brazilian version of the Berg balance scale. Braz J Med Biol Res. 2004;37(9):1411-1421.
Winser SJ, Smith C, Hale LA, Claydon LS, Whitney SL. Balance outcome measures in cerebellar ataxia: a Delphi survey. Disabil Rehabil. 2015;37(2):165-170.
Riberto M, Miyazaki MH, Jucá SSH, Sakamoto H, Pinto PPN, Battistella LR. Validação da Versão Brasileira da Medida de Independência Funcional. Acta Fisiátrica. 2016;11(2):72-76.
dos Santos RL, Júnior JSV. Confiabilidade da versão brasileira da escala de atividades instrumentais da vida diária. Rev Bras Em Promoção Saúde. 2012;21(4):290-296.
D’abreu A, Franca M Jr, Lopes-Cendes I, Cendes F. The international cooperative ataxia rating scale in Machado-Joseph disease. Comparison with the unified multiple system atrophy rating scale. Mov Disord. 2007;22(13):1976-1979.
Pulido-Valdeolivas I, Gómez-Andrés D, Sanz-Gallego I, Rausell E, Arpa J. Patterns of motor signs in spinocerebellar ataxia type 3 at the start of follow-up in a reference unit. Cerebellum Ataxias [Internet]. 2016; 3. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763420/. Feb 23, Accessed Nov 20, 2016.
Paulson H. Machado-Joseph disease/spinocerebellar ataxia type 3. Handb Clin Neurol. 2012;103:437-449.
Dürr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996;39(4):490-499.
Jardim LB, Pereira ML, Silveira I, Ferro A, Sequeiros J, Giugliani R. Neurologic findings in machado-joseph disease: Relation with disease duration, subtypes, and (cag)n. Arch Neurol. 2001;58(6):899-904.
França MC, D’Abreu A, Nucci A, Cendes F, Lopes-Cendes I. Progression of ataxia in patients with Machado-Joseph disease. Mov Disord. 2009;24(9):1387-1390.
Jacobi H, Bauer P, Giunti P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011;77(11):1035-1041.
Jacobi H, du Montcel ST, Bauer P, et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015;14(11):1101-1108.
Coutinho P. Doença de Machado-Joseph: Tentativa de definição [Tesis]. Instituto de Ciências Médicas Abel Salazar, Universidade do Porto, Porto, 1992.
Xia G, McFarland KN, Wang K, Sarkar PS, Yachnis AT, Ashizawa T. Purkinje cell loss is the major brain pathology of spinocerebellar ataxia type 10. J Neurol Neurosurg Psychiatry. 2013;84(12):1409-1411.
Seidel K, Siswanto S, Brunt ERP, den Dunnen W, Korf H-W, Rüb U. Brain pathology of spinocerebellar ataxias. Acta Neuropathol (Berl). 2012;124(1):1-21.
Teive HAG, Ashizawa T. Spinocerebellar ataxia type 10: From Amerindians To Latin Americans. Curr Neurol Neurosci Rep. 2013;13(11):393.
Moro A, Moscovich M, Farah M, et al. Comparison of non-motors symptoms in patients with spinocerebellar ataxia type 10 and type 3. Parkinsonism Relat Disord. 2016;22:e150.
Hoche F, Guell X, Vangel MG, Sherman JC, Schmahmann JD. The cerebellar cognitive affective/Schmahmann syndrome scale. Brain. 2017;141(1):248-270.
Moriarty A, Cook A, Hunt H, Adams ME, Cipolotti L, Giunti P. A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7. Orphanet J Rare Dis [Internet]. 2016;11. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4917932/. Jun 22, Accessed Nov 20, 2016.