Abstract
Cerebellar ataxias (CAs) represent a heterogeneous group of sporadic or inherited disorders. The clinical spectrum of CAs is continuously expanding. Our understanding of the mechanisms leading to the clinical deficits has improved over these last decades, in particular thanks to progress in genetics, neuroimaging and the advent of relevant animal models allowing the identification of the pathophysiological pathways leading to CAs. The rationale behind treatments is now established for most of the CAs encountered during daily practice worldwide. In this update, we will discuss the symptomatic, physical and occupational therapies now being trialled along with individualized exercises, and present key emerging issues on immune-mediated cerebellar ataxias, hereditary cerebellar ataxias. Finally, we will discuss novel therapeutic approaches, including cerebellar non-invasive stimulation and treatments acting on RNA/proteins. So far, no state-of-the art randomized placebo-controlled clinical trial has shown a convincing clinically relevant efficacy of any drug, with the exception of 4-aminopyridine for the symptomatic treatment of episodic ataxia type 2 and downbeat nystagmus (placebo-controlled trials).
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M.M. is Chief Editor of The Cerebellum, Chief Editor of Cerebellum and Ataxias, Deputy Editor of the Journal of NeuroEngineeing and Rehabilitation, Editor of Contemporary Clinical Neurosciences. He has received royalties from Cambrige University Press, Springer, Lavoisier Medecine, Elsevier, Morgan and Claypool. M.S. is Joint Chief Editor of the Journal of Neurology, Editor in Chief of Frontiers of Neuro-otology and Section Editor of F1000. He has received speaker’s honoraria from Abbott, Actelion, Auris Medical, Biogen, Eisai, Gr€unenthal, GSK, Henning Pharma, Interacoustics, Merck, MSD, Otometrics, Pierre-Fabre, TEVA, UCB. He is a shareholder of IntraBio. He acts as a consultant for Abbott, Actelion, AurisMedical, Heel, IntraBio, and Sensorion.
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Gandini, J., Manto, M., Bremova-Ertl, T. et al. The neurological update: therapies for cerebellar ataxias in 2020. J Neurol 267, 1211–1220 (2020). https://doi.org/10.1007/s00415-020-09717-3
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DOI: https://doi.org/10.1007/s00415-020-09717-3