Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia [RETIRED]

Abstract

For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients with SCA type 3, valproic acid 1,200 mg/d possibly improves ataxia at 12 weeks. For patients with spinocerebellar degeneration, thyrotropin-releasing hormone possibly improves some ataxia signs over 10 to 14 days (1 Class II study). For patients with SCA type 3 who are ambulatory, lithium probably does not improve signs of ataxia over 48 weeks (1 Class I study). For patients with Friedreich ataxia, deferiprone possibly worsens ataxia signs over 6 months (1 Class II study). Data are insufficient to support or refute the use of numerous agents. For nonpharmacologic options, in patients with degenerative ataxias, 4-week inpatient rehabilitation probably improves ataxia and function (1 Class I study); transcranial magnetic stimulation possibly improves cerebellar motor signs at 21 days (1 Class II study). For patients with multiple sclerosis-associated ataxia, the addition of pressure splints possibly has no additional benefit compared with neuromuscular rehabilitation alone (1 Class II study). Data are insufficient to support or refute use of stochastic whole-body vibration therapy (1 Class III study).

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

“…However, several compounds and treatment strategies that aid in improving the quality of life exist. Readers are directed to more comprehensive reviews on the symptomatic treatment elsewhere [ 43 , 114 – 117 ]. The aim of this review is to provide an overview of potential treatments for the polyQ SCAs that can be divided into pharmacological and gene therapies that target the toxic downstream effects, gene therapies that target the polyQ SCA genes, and stem cell replacement therapies.…”

Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review

“…Currently, the majority of degenerative ataxias lack effective pharmacologic disease-modifying therapies and there is growing interest in finding innovative therapeutic approaches to improve clinical symptoms in patients with this spectrum of debilitating disorders. Recently, a report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology has systematically reviewed the evidence regarding ataxia treatment, with only few studies emerging as promising for the treatment of only a subset of cerebellar ataxias [25]. What emerges is that the development of effective therapies may be hampered by the heterogeneity of the cerebellar ataxias and that specific therapeutic approaches may be required for each disease.…”

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study

“…An impaired function of PCs due to reduced excitability is also compatible with the mode of action of the potassium channel blocker 4-aminopyridine, the drug of choice for the treatment of DBN [41,42] which increases the excitability of PCs [43]. The same applies to the 4-aminopyridine treatment of episodic ataxia type 2 (EA2), which is also associated with DBN [44,45].…”