ReviewJournal of medical genetics2000
Friedreich ataxia: an overview.
Review in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 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
127 citing papers in PubMed, 1 synthesis or guideline pooled it, 351 citations in OpenAlex.
- Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes.The Cochrane database of systematic reviews · 2014Pooled it
- Safety and preliminary efficacy of autologous bone marrow-derived mesenchymal stem cell transplantation in hereditary cerebellar ataxia: phase I/IIa clinical trial.Stem cell research & therapy · 2026Trial
- Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation.BioMed research international · 2013Trial
- Utilisation of advance motor information is impaired in Friedreich ataxia.Cerebellum (London, England) · 2011Trial
- Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.Heart (British Cardiac Society) · 2002Trial
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Myeloid cell replacement induces intercellular mitochondrial transfer and restores metabolism in a mouse model of mitochondrial disease.Nature communications · 2026Article
- Article
- Cerebellar cognitive-affective syndrome in Friedreich Ataxia.Journal of neurology · 2026Observational
- Psychological resilience in patients with Friedreich ataxia: a 6-year longitudinal analysis.Neurological research and practice · 2026Article
- Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia.Journal of patient-reported outcomes · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Inhibition of Rho-Associated Kinases ROCK1 and ROCK2 as a Therapeutic Strategy to Reactivate the RepressedThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction.Disease models & mechanisms · 2025Article
- Frataxin deficiency and the pathology of Friedreich's Ataxia across tissues.Tissue barriers · 2025Review
- Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.Frontiers in neurology · 2025Review
- Impacts of mitochondrial dysfunction on axonal microtubule bundles as a potential mechanism of neurodegeneration.Frontiers in neuroscience · 2025Review
- Oxidative stress and inflammation in the pathogenesis of neurological disorders: Mechanisms and implications.Acta pharmaceutica Sinica. B · 2025Review
- Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.Journal of neurology · 2024Article
- Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia.Muscle & nerve · 2024Article
67 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA, has led to rapid advances in the understanding of the pathogenesis of Friedreich ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the gene. This leads to reduced levels of the protein, frataxin. There is mounting evidence to suggest that Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, which then results in cellular damage and death. Currently there is no known treatment that alters the natural course of the disease. The discovery of the FRDA gene and its possible function has raised hope that rational therapeutic strategies will be developed.
Indexed as
Identifiers
What OpenQuestion holds
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.