Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review

• Published in: Journal of neurology Vol. 269; no. 5; pp. 2315 - 2337
• Main Authors: Yap, Kah Hui, Azmin, Shahrul, Che Hamzah, Jemaima, Ahmad, Norfazilah, van de Warrenburg, Bart, Mohamed Ibrahim, Norlinah
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.05.2022; Springer Nature B.V
• Subjects: Amino acids; Ataxia; Ataxia - diagnosis; Cerebellar Ataxia; Cerebellum; Genotypes; Humans; Intravenous administration; Lithium; Magnetic fields; Management; Medicine; Medicine & Public Health; Neurology; Neuroradiology; Neurosciences; Patients; Quality of Life; Rehabilitation; Review; Spinocerebellar ataxia; Spinocerebellar Ataxias - drug therapy; Spinocerebellar Ataxias - genetics; Systematic review; Transcranial Direct Current Stimulation; Transcranial magnetic stimulation; Trehalose; Valproic acid; Pharmacological; Systematic review; Management; Rehabilitation; Spinocerebellar ataxia
• ISSN: 0340-5354; 1432-1459
• DOI: 10.1007/s00415-021-10874-2

Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. While an updated review on the management of degenerative ataxia is published recently, an evidence-based review focussed on the management of SCA is lacking. Here, we reviewed the pharmacological and non-pharmacological management of SCA by conducting a systematic review on Medline Ovid and Scopus. Of 29,284 studies identified, 47 studies (pharmacological: n  = 25; non-pharmacological: n  = 22) that predominantly involved SCA patients were included. Twenty studies had a high risk of bias based on the Cochrane’s Collaboration risk of bias tool. As per the European Federation of Neurological Societies 2004 guideline for therapeutic intervention, the remaining 27 studies were of Class I ( n  = 4) and Class II ( n  = 23) evidence. Only two therapies had Level A recommendations for the management of ataxia symptoms: riluzole and immediate in-patient neurorehabilitation. Ten therapies had Level B recommendations for managing ataxia symptoms and require further investigations with better study design. These include high dose valproate acid, branched-chain amino acid, intravenous trehalose; restorative rehabilitation using cycling regimen and videogame; and cerebellar stimulations using transcranial direct current stimulation and transcranial magnetic stimulation. Lithium and coaching on psychological adjustment received Level B recommendation for depressive symptoms and quality of life, respectively. Heterogeneous study designs, different genotypes, and non-standardized clinical measures alongside short duration and small sample sizes may hamper meaningful clinical translation. Therefore, rating of recommendations only serve as points of reference.