ReviewJournal of neurology2009
Friedreich ataxia: the clinical picture.
Review in Journal of neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 202 papers, 2 of them syntheses that pooled it.
What it found
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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
202 citing papers in PubMed, 2 syntheses or guidelines pooled it, 386 citations in OpenAlex.
- Efficacy and safety of noninvasive brain stimulation for patients with cerebellar ataxia: a systematic review and meta-analysis of randomized controlled trials.Journal of neurology · 2023Pooled it
- Treatment for dysphagia (swallowing difficulties) in hereditary ataxia.The Cochrane database of systematic reviews · 2015Pooled it
- Results of a randomized double-blind study evaluating luvadaxistat in adults with Friedreich ataxia.Annals of clinical and translational neurology · 2021Trial
- Randomized, double-blind, placebo-controlled study of interferon-Annals of clinical and translational neurology · 2019Trial
- Utilisation of advance motor information is impaired in Friedreich ataxia.Cerebellum (London, England) · 2011Trial
- A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.Cerebellum (London, England) · 2026Article
- Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich's ataxia.Scientific reports · 2026Article
- Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia.Journal of neurology · 2026Article
- Development of a secretable frataxin for enhanced efficacy in treating Friedreich's Ataxia.Molecular therapy. Advances · 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
- Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives.Stem cell research & therapy · 2026Review
- Zygomatic Screws for Severe Open Bite Closure in a Young Friedreich's Ataxia Patient: A Case Report.Case reports in dentistry · 2026Article
- Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia.BMJ neurology open · 2026Review
- Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich ataxia: evidence from HERMES-edited MR spectroscopy.NeuroImage. Clinical · 2026Article
- Induced Proprioceptor and Low-Threshold Mechanoreceptor Neurons Derived from Human Pluripotent Stem Cells Exhibit Distinct Functional Mechanosensory Properties.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia.Nature communications · 2025Article
- RTA 408 attenuates TBHP-Induced apoptosis in nucleus pulposus cells via Nrf2/ARE and NF-κB signaling pathways: in vitro and in vivo evidence for mitigating rats' intervertebral disc degeneration.Arthritis research & therapy · 2025Article
- Anti-gene oligonucleotides targeting Friedreich's ataxia expanded GAA⋅TTC repeats increase Frataxin expression.Molecular therapy. Nucleic acids · 2025Article
- Predictive machine learning and multimodal data to develop highly sensitive, composite biomarkers of disease progression in Friedreich ataxia.Scientific reports · 2025Article
- Multisample motif discovery and visualization for tandem repeats.Genome research · 2025Article
142 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
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder that affects approximately 1 in 50,000 Caucasians. It is caused by hyperexpansion of GAA repeats in the first intron of the frataxin gene. Initial symptoms of FRDA usually appear around the beginning of the second decade of life. In addition to neuropathological disabilities such as ataxia, sensory loss, and muscle weakness, common signs are scoliosis, foot deformity, and hypertrophic cardiomyopathy. Approximately 10 % of patients with FRDA develop diabetes. The neuronopathy in the dorsal root ganglia, accompanied by the loss of peripheral sensory nerve fibres and the degeneration of posterior columns of the spinal cord, is a hallmark of the disease and is responsible for the typical combination of signs and symptoms specific to FRDA. Variation in neurophysiological abnormalities is correlated with the size of the GAA repeat expansion and likely accounts for individual variation in the progression of FRDA. Despite a range of disease severity, most patients will lose their ability to walk, stand, or sit without support within 10 to 15 years of disease onset. In addition to a review of the clinicopathological features of FRDA, a discussion of recent advances in our understanding of the underlying molecular mechanisms is provided.
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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.