ReviewBritish medical bulletin2017
Friedreich's ataxia: clinical features, pathogenesis and management.
Review in British medical bulletin, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
113 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Deep Brain Stimulation for Cerebellar Ataxia: A Systematic Review on Indications, Targets and Outcomes.Cerebellum (London, England) · 2026Pooled it
- Evolution of Friedreich's Ataxia Management Across Established and Emerging Therapies-Systematic Review and Meta-Analysis.Journal of clinical medicine · 2026Review
- Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.Journal of neuromuscular diseases · 2026Article
- Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis.Neurological research and practice · 2026Article
- Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis.bioRxiv : the preprint server for biology · 2026Article
- Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.Journal of translational medicine · 2026Article
- Development of an AAV-based gene therapy for the ocular phenotype of Friedreich's ataxia.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Friedreich's ataxia patient pathway in Europe.Frontiers in health services · 2026Article
- Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy.NeuroImage. Clinical · 2026Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- Early experience on omaveloxolone in adult patients with Friedreich's ataxia: a real-world observational study.Journal of neurology · 2025Observational
- Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.Biomedicines · 2025Article
- Iron: More than Meets the Eye.Nutrients · 2025Review
- Pharmacokinetics and Pharmacodynamics of Nomlabofusp in Non-clinical Studies of Friedreich's Ataxia.The AAPS journal · 2025Article
- Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report.Radiology case reports · 2025Article
- Frataxin: from the sequence to the biological role.Biophysical reviews · 2025Review
- Engineered mitochondria in diseases: mechanisms, strategies, and applications.Signal transduction and targeted therapy · 2025Review
- Progress on mitochondria and hair follicle development in androgenetic alopecia: relationships and therapeutic perspectives.Stem cell research & therapy · 2025Review
- From thick walls to clear answers: approaches to diagnosing hypertrophic cardiomyopathy and its mimics.European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.American journal of medical genetics. Part A · 2025Article
53 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFriedreich's ataxia is the most common inherited ataxia. SOURCES OF DATA: Literature search using PubMed with keywords Friedreich's ataxia together with published papers known to the authors. AREAS OF AGREEMENT: The last decade has seen important advances in our understanding of the pathogenesis of disease. In particular, the genetic and epigenetic mechanisms underlying the disease now offer promising novel therapeutic targets. AREAS OF CONTROVERSY: The search for effective disease-modifying agents continues. It remains to be determined whether the most effective approach to treatment lies with increasing frataxin protein levels or addressing the metabolic consequences of the disease, for example with antioxidants. AREAS TIMELY FOR DEVELOPING RESEARCH: Management of Freidreich's ataxia is currently focussed on symptomatic management, delivered by the multidisciplinary team. Phase II clinical trials in agents that address the abberrant silencing of the frataxin gene need to be translated into large placebo-controlled Phase III trials to help establish their therapeutic potential.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.