ReviewNeurogenetics2015
Milestones in Friedreich ataxia: more than a century and still learning.
Review in Neurogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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
20 citing papers in PubMed, 47 citations in OpenAlex.
- Satellite Glial Cells in Human Disease.Cells · 2024Review
- Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines.Nature communications · 2023Article
- A Diagnostic Approach to Spastic ataxia Syndromes.Cerebellum (London, England) · 2022Review
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.Cell death & disease · 2020Article
- Recent Advances in the Treatment of Cerebellar Disorders.Brain sciences · 2019Review
- Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide.Scientific reports · 2019Article
- Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.Cerebellum (London, England) · 2019Article
- Potential Treatment of Retinal Diseases with Iron Chelators.Pharmaceuticals (Basel, Switzerland) · 2018Review
- Article
- Peptide SS-31 upregulates frataxin expression and improves the quality of mitochondria: implications in the treatment of Friedreich ataxia.Scientific reports · 2017Article
- Structural signature of classical versus late-onset friedreich's ataxia by Multimodality brain MRI.Human brain mapping · 2017Article
- Late-Onset Friedreich's Ataxia (LOFA) Mimicking Charcot-Marie-Tooth Disease Type 2: What Is Similar and What Is Different?Cerebellum (London, England) · 2017Article
- Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.Cerebellum (London, England) · 2017Article
- Article
- Iron-induced oligomerization of human FXN81-210 and bacterial CyaY frataxin and the effect of iron chelators.PloS one · 2017Article
- Ataxia.Continuum (Minneapolis, Minn.) · 2016Review
- The Structure of the Complex between Yeast Frataxin and Ferrochelatase: CHARACTERIZATION AND PRE-STEADY STATE REACTION OF FERROUS IRON DELIVERY AND HEME SYNTHESIS.The Journal of biological chemistry · 2016Article
- Uncovering brain-heart information through advanced signal and image processing.Philosophical transactions. Series A, Mathematical, physical, and engineering sciences · 2016Article
- Current concepts in the treatment of hereditary ataxias.Arquivos de neuro-psiquiatria · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia worldwide. This review highlights the main clinical features, pathophysiological mechanisms, and therapeutic approaches for FRDA patients. The disease is characterized by a combination of neurological involvement (ataxia and neuropathy), cardiomyopathy, skeletal abnormalities, and glucose metabolism disturbances. FRDA is caused by expanded guanine-adenine-adenine (GAA) triplet repeats in the first intron of the frataxin gene (FXN), resulting in reduction of messenger RNA and protein levels of frataxin in different tissues. The molecular and metabolic disturbances, including iron accumulation, lead to pathological changes characterized by spinal cord and dorsal root ganglia atrophy, dentate nucleus atrophy without global cerebellar volume reduction, and hypertrophic cardiomyopathy. DNA analysis is the hallmark for the diagnosis of FRDA. There is no specific treatment to stop the disease progression in FRDA patients. However, a number of drugs are under investigation. Therapeutic approaches intend to improve mitochondrial functioning and to increase FXN expression.
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.