Product information and disease description Place of product in therapy Approaches to treatment Current treatment options and standard of care

Symptomatic medications for ataxia and movement disorders

10 evidence topics · 10 sources

Guideline position on drug treatment of ataxia, dystonia, and chorea

“Few small non-randomized studies have investigated the neurological treatment in ataxia-telangiectasia specifically.” (opens the source at this quote in a new tab)
“In general, treatment of ataxia is difficult owing to the lack of effective drugs.” (opens the source at this quote in a new tab)
“Botulinum neurotoxin A is the first-choice treatment for focal dystonia.” (opens the source at this quote in a new tab)
“No studies on the treatment of chorea in ataxia-telangiectasia have been conducted.” (opens the source at this quote in a new tab)

Effectiveness of pharmacotherapy for extrapyramidal movement disorders

“The effectiveness of pharmacotherapy in movement disorders in A-T is low to moderate.” (opens the source at this quote in a new tab)
“Dystonia, the most troublesome movement disorder in A-T, can vary in distribution and severity and varies among affected individuals.” (opens the source at this quote in a new tab)
“As in individuals with torticollis, botulinum toxin A is the treatment of first choice.” (opens the source at this quote in a new tab)
“Anticholinergic drugs and GABA mimetics can be helpful.” (opens the source at this quote in a new tab)

Drugs commonly prescribed for neurological symptoms

“Commonly prescribed drugs include trihexyphenidyl (Artane), amantadine [148], baclofen and BOTOX® injections.” (opens the source at this quote in a new tab)
“However, to date, their efficacy and the features of motor impairment that would best be targeted in A-T are not known. All drugs should be prescribed by a neurologist familiar with the assessment and treatment of individuals with movement disorders.” (opens the source at this quote in a new tab)

“Other medication will be useful from time to time for particular symptoms as part of the child’s care, for example muscle relaxants such as baclofen, diazepam, tizanidine, dantrolene are sometimes helpful for stiffness and spasms.” (opens the source at this quote in a new tab)

Amantadine: open-label study in 17 children

“We treated 17 children (aged 11.2 ± 3.9 years) for 8 weeks with the dopaminergic and anti-N-methyl-d-aspartate (NMDA) agent amantadine sulfate 6.3 ± 0.87 mg/kg/d.” (opens the source at this quote in a new tab)
“Overall, 76.5% of patients were responders, with a mean 29.3% improvement. Ataxia, involuntary movements, and parkinsonism improved significantly (25.3%, 32.5%, and 29.5%, respectively); (P < .001, t test).” (opens the source at this quote in a new tab)
“Side effects were mild and transient, and they did not lead to drug discontinuation.” (opens the source at this quote in a new tab)
“Assessment of long-term effects and a double-blind study should follow.” (opens the source at this quote in a new tab)

Amantadine: appraisal in a systematic review

“However, the composite AT score, aggregating ICARS, the Abnormal Involuntary Movement Scale, and the Unified Parkinson's Disease Rating Scale, may primarily reflect effects on parkinsonian symptoms rather than direct improvement in cerebellar ataxia, and the absence of a control group, small sample size (n = 17), and short follow‐up duration severely limit the interpretability of these findings [30].” (opens the source at this quote in a new tab)

4-Aminopyridine: eye movement and vestibular function in 4 participants

“The influence of 4-AP on disorders of eye movements and vestibular function was studied in four A-T patients.” (opens the source at this quote in a new tab)
“Among two A-T subjects who manifested PAN, 4-AP reduced the peak slow phase velocity of the more severely affected individual and abrogated the PAN in the other.” (opens the source at this quote in a new tab)

Nicotinamide riboside: guideline statement

“Nicotinamide riboside, a form of vitamin B3, at 25 mg/kg/day (maximum dose of 900 mg/day), has significantly reduced ataxia scores (i.e., improved the motor disorder) in a single trial with 24 individuals with both classic and variant A-T” (opens the source at this quote in a new tab)

Nicotinamide riboside: open-label study over 4 months

“In this open‐label, proof‐of‐concept study, 24 patients with A‐T were treated with NR during four consecutive months.” (opens the source at this quote in a new tab)
“During treatment, ataxia scores improved; mean total Scale for the Assessment and Rating of Ataxia and International Cooperative Ataxia Rating Scale scores decreased to 2.4 and 10.1 points, respectively. After NR withdrawal, ataxia scores worsened.” (opens the source at this quote in a new tab)
“Adverse effects did not occur.” (opens the source at this quote in a new tab)

Nicotinamide riboside: open-label study over 2 years

“A single-arm, open-label clinical trial was performed in individuals with A-T, receiving NR over a period of 2 years.” (opens the source at this quote in a new tab)
“The total scores in the neuromotor test panels, as evaluated at the 18-month time point, improved for all but one participant, primarily driven by improvements in coordination subscores and eye movements.” (opens the source at this quote in a new tab)

Triheptanoin: phase 2a/b placebo-controlled dose-escalation trial

“31 participants with A-T were enrolled aged from 4 to 37 years (median 16-years).” (opens the source at this quote in a new tab)
“The primary outcome was cell death in respiratory epithelial cells.” (opens the source at this quote in a new tab)
“Adverse events including abdominal pain, nausea, vomiting, and diarrhoea, requiring dose capping at 20%, were observed in 12 (38%) participants.” (opens the source at this quote in a new tab)