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).
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Gandini J,Manto M,Bremova-Ertl T,Feil K,Strupp Mdoi
10.1007/s00415-020-09717-3subject
Has Abstractpub_date
2020-04-01 00:00:00pages
1211-1220issue
4eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-09717-3journal_volume
267pub_type
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pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
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