ReviewJournal of neuropathology and experimental neurology2013
Friedreich ataxia: neuropathology revised.
Review in Journal of neuropathology and experimental neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 147 papers, 3 of them syntheses 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
147 citing papers in PubMed, 3 syntheses or guidelines pooled it, 252 citations in OpenAlex.
- Cell-Based Therapies for Spinocerebellar Degenerations: A Systematic Review of Human Clinical Evidence.Cerebellum (London, England) · 2026Pooled it
- The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis.BMC neurology · 2022Pooled it
- Upper Limb Physical Rehabilitation Using Serious Videogames and Motion Capture Systems: A Systematic Review.Sensors (Basel, Switzerland) · 2020Pooled it
- Results of a randomized double-blind study evaluating luvadaxistat in adults with Friedreich ataxia.Annals of clinical and translational neurology · 2021Trial
- Impaired Glur2 palmitoylation in cerebellar Purkinje cells of a Friedreich ataxia mouse model.Experimental neurology · 2026Article
- Neuropathology of Friedreich ataxia and its links to metabolic pathways.Neurodegenerative disease management · 2026Review
- Impact of Omaveloxolone on Serum Lipids in Patients with Friedreich Ataxia: A 1-Year Real-World Analysis.CNS drugs · 2026Observational
- Cerebellar cognitive-affective syndrome in Friedreich Ataxia.Journal of neurology · 2026Observational
- Assessing airway clearance dysfunction in Friedreich's ataxia: A focus on peak cough flow.Journal of neuromuscular diseases · 2026Article
- Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Nerve Ultrasound in Patients With Friedreich Ataxia.Muscle & nerve · 2026Article
- Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives.Stem cell research & therapy · 2026Review
- Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Review
- Evaluation of Mitochondrial Complex 1 Density with [Journal of nuclear medicine : official publication, Society of Nuclear Medicine · 2025Article
- Roots of Progress: Uncovering Cerebellar Ataxias Using iPSC Models.Biomedicines · 2025Review
- Understanding the genetics and neurology: an overview of adult neurogenetics.Asian biomedicine : research, reviews and news · 2025Review
- False Beliefs, True Deficits: Investigating Social Cognition in Friedreich Ataxia.Cerebellum (London, England) · 2025Article
- Movement Disorders in Hereditary Cerebellar Ataxia.Movement disorders clinical practice · 2025Article
- A global perspective on research advances and future challenges in Friedreich ataxia.Nature reviews. Neurology · 2025Review
87 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
2 authors at 2 institutions in 1 country.
Funding
Abstract
Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein. Low frataxin levels lead to insufficient biosynthesis of iron-sulfur clusters that are required for mitochondrial electron transport and assembly of functional aconitase, and iron dysmetabolism of the entire cell. This review of the neuropathology of Friedreich ataxia stresses the critical role of hypoplasia and superimposed atrophy of dorsal root ganglia. Progressive destruction of dorsal root ganglia accounts for thinning of dorsal roots, degeneration of dorsal columns, transsynaptic atrophy of nerve cells in Clarke column and dorsal spinocerebellar fibers, atrophy of gracile and cuneate nuclei, and neuropathy of sensory nerves. The lesion of the dentate nucleus consists of progressive and selective atrophy of large glutamatergic neurons and grumose degeneration of corticonuclear synaptic terminals that contain γ-aminobutyric acid (GABA). Small GABA-ergic neurons and their projection fibers in the dentato-olivary tract survive. Atrophy of Betz cells and corticospinal tracts constitute a second intrinsic CNS lesion. In light of the selective vulnerability of organs and tissues to systemic frataxin deficiency, many questions about the pathogenesis of Friedreich ataxia remain.
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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.