Friedreich ataxia

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

• Publication year

  2010

• Venue

  Definitions

• Publication date

  2010-05-13

• Fields of study

  Not labeled

• Identifiers
  DOI 10.1007/3-540-29623-9_7090
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Spinal Cord Atrophy Correlates with Disability in Friedreich’s Ataxia

  2013cited by this paper
• Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia.

  2012cited by this paper
• Auditory pathway changes mirror overall disease progress in individuals with Friedreich ataxia

  2012cited by this paper
• Binaural speech processing in individuals with auditory neuropathy.

  2012cited by this paper
• The autosomal recessive cerebellar ataxias.

  2012cited by this paper
• Central role and mechanisms of β‐cell dysfunction and death in friedreich ataxia–associated diabetes

  2012cited by this paper
• The cerebellar component of Friedreich’s ataxia

  2011cited by this paper
• A gene expression phenotype in lymphocytes from friedreich ataxia patients

  2011cited by this paper
• Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.

  2011cited by this paper
• Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients

  2011cited by this paper
• Mortality in Friedreich ataxia.

  2011cited by this paper
• Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

  2011cited by this paper
• Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question

  2010cited by this paper
• Disruption to higher order processes in Friedreich ataxia.

  2010cited by this paper
• (1)H MR spectroscopy in Friedreich's ataxia and ataxia with oculomotor apraxia type 2.

  2010cited by this paper
• Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.

  2010cited by this paper
• Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.

  2010cited by this paper
• The dorsal root ganglion in Friedreich’s ataxia

  2009cited by this paper
• The pathogenesis of Friedreich ataxia and the structure and function of frataxin

  2009cited by this paper
• Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

  2009cited by this paper
• Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

  2009cited by this paper
• Friedreich ataxia: The clinical picture

  2009cited by this paper
• Visual system involvement in patients with Friedreich's ataxia.

  2009cited by this paper
• Targeting the gene in Friedreich ataxia.

  2008cited by this paper
• DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients

  2008cited by this paper
• Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial.

  2007cited by this paper
• Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.

  2007cited by this paper
• Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.

  2007cited by this paper
• Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.

  2007cited by this paper
• Iron and Friedreich ataxia.

  2006cited by this paper
• Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia

  2006cited by this paper
• GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

  2006cited by this paper
• Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations.

  2006cited by this paper
• A Pool of Extramitochondrial Frataxin That Promotes Cell Survival*

  2006cited by this paper
• Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.

  2006cited by this paper
• Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.

  2006cited by this paper
• Ueber degenerative Atrophie der spinalen Hinterstränge

  2005cited by this paper
• Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up.

  2005cited by this paper
• Increased IRP1 activity in Friedreich ataxia.

  2005cited by this paper
• Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

  2004cited by this paper
• Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families

  2004cited by this paper
• Cardiac bioenergetics in Friedreich's ataxia

  2003cited by this paper
• DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing

  2003cited by this paper
• A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.

  2002cited by this paper
• Frataxin knockin mouse

  2002cited by this paper
• Mitochondrial Dysfunction in Friedreich's Ataxia: From Pathogenesis to Treatment Perspectives

  2002cited by this paper
• Glutathione in blood of patients with Friedreich's ataxia

  2001cited by this paper
• Sticky DNA, a Self-associated Complex Formed at Long GAA·TTC Repeats in Intron 1 of the Frataxin Gene, Inhibits Transcription*

  2001cited by this paper
• Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

  2001cited by this paper
• Crystal Structure of Human Frataxin*

  2000cited by this paper
• Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.

  2000cited by this paper
• Oxidative stress in patients with Friedreich ataxia

  2000cited by this paper
• Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.

  2000cited by this paper
• Increased serum transferrin receptor concentrations in Friedreich ataxia

  2000cited by this paper
• Increased levels of plasma malondialdehyde in Friedreich ataxia.

  2000cited by this paper
• Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.

  2000cited by this paper
• Why do some Friedreich’s ataxia patients retain tendon reflexes?

  1999cited by this paper
• Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

  1999cited by this paper
• Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich’s ataxia

  1999cited by this paper
• Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

  1999cited by this paper
• A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis

  1999cited by this paper
• Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.

  1999cited by this paper
• Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

  1998cited by this paper
• Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

  1998cited by this paper
• The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

  1997cited by this paper
• Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.

  1997cited by this paper
• Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

  1997cited by this paper
• Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

  1997cited by this paper
• Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

  1997cited by this paper
• Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.

  1997cited by this paper
• Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction.

  1996cited by this paper
• Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

  1996cited by this paper
• Clinical and genetic abnormalities in patients with Friedreich's ataxia.

  1996cited by this paper
• Friedreich's ataxia with retained tendon reflexes

  1996cited by this paper
• Friedreich ataxia.

  1995cited by this paper
• Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

  1995cited by this paper
• Cerebral glucose hypermetabolism in Friedreich's ataxia detected with positron emission tomography

  1990cited by this paper
• Evoked Potential Studies in Friedreich's Ataxia and Progressive Early Onset Cerebellar Ataxia

  1988cited by this paper
• Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.

  1981cited by this paper
• The Cardiomyopathy of Friedreich's Ataxia Morphological Observations in 3 Cases

  1980cited by this paper
• Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

  1976cited by this paper

• DNA repeats: origins, conservation, and role in human disease

  2026cites this paper
• Nrf2 activators for the treatment of rare iron overload diseases: From bench to bedside

  2025cites this paper
• Buried Treasure? Overlooked and Newly Discovered Evolutionary Contributions to Human Brain Diseases

  2025cites this paper
• Impacts of mitochondrial dysfunction on axonal microtubule bundles as a potential mechanism of neurodegeneration

  2025cites this paper
• Optimizing selectivity of the Cerebellar Cognitive Affective Syndrome Scale by use of correction formulas, and validation of its German version

  2025cites this paper
• Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model

  2025cites this paper
• Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review

  2025cites this paper
• STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

  2025cites this paper
• Nomlabofusp, a Fusion Protein of Human Frataxin and a Cell Penetrant Peptide, Delivers Mature and Functional Frataxin into Mitochondria

  2025cites this paper
• Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich’s Ataxia-GAA Repeats

  2025influential citation
• Can I drive a truck? - very late-onset Friedreich's ataxia

  2025cites this paper
• Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity

  2025cites this paper
• Comparing the Effects of Sensory Tricks on Voice Symptoms in Patients With Laryngeal Dystonia and Essential Vocal Tremor

  2025cites this paper
• The contribution of genetics to the understanding and management of cardiomyopathies: Part 2.

  2025cites this paper
• Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction

  2025cites this paper
• Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome Coexisting With JAK2-Positive Polycythemia Vera and Myelofibrosis

  2025cites this paper
• CANVAS as example of genetic and clinical complexity of RFC1-related disorders.

  2025cites this paper
• Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

  2025cites this paper
• Targeting Friedreich Ataxia: A Sustainable Path to Safer and Smarter Therapeutics Through Integrated Docking and Toxicology

  2024cites this paper
• Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

  2024cites this paper
• Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

  2024cites this paper
• Optimizing Communication in Ataxia: A Multifaceted Approach to Alternative and Augmentative Communication (AAC)

  2024cites this paper
• Top 10 Clinical Pearls in Inherited Neuropathies

  2024cites this paper
• STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

  2024cites this paper
• Precision Genetic Therapies: Balancing Risk and Benefit in Patients with Heart Failure

  2024cites this paper
• Expanded carrier screening for inherited genetic disease using exome and genome sequencing

  2024cites this paper
• Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia

  2024cites this paper
• One-to-one Benefit provided by Antioxidants to cultured skin Fibroblasts from Friedreich Ataxia patients

  2024cites this paper
• Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data

  2024cites this paper
• Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

  2023cites this paper
• Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach

  2023cites this paper
• Apparent Opportunities and Hidden Pitfalls: The Conflicting Results of Restoring NRF2-Regulated Redox Metabolism in Friedreich’s Ataxia Pre-Clinical Models and Clinical Trials

  2023cites this paper
• Friedreich ataxia.

  2023cites this paper
• Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

  2023cites this paper
• FXN gene methylation determines carrier status in Friedreich ataxia

  2023cites this paper
• Omaveloxolone: an activator of Nrf2 for the treatment of Friedreich ataxia

  2023cites this paper
• Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia

  2023cites this paper
• Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers

  2023cites this paper
• Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort

  2023cites this paper
• A Spotlight on Friedreich Ataxia: Optimising the Patient Journey from Diagnosis to Disease Management

  2023cites this paper
• Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich’s ataxia

  2023cites this paper
• Large-scale expansions of Friedreich’s ataxia GAA•TTC repeats in human cells are prevented by LNA-DNA oligonucleotides and PNA oligomers

  2022cites this paper
• Impact of neurological disorders occurring in neurodegenerative diseases on the conversation process and patients' quality of life

  2022influential citation
• A Clinical and Epidemiological Prevalence Study on Friedreich’s Ataxia in Latium, Italy

  2022cites this paper
• Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

  2022cites this paper
• Drug Repositioning in Friedreich Ataxia

  2022cites this paper
• The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients

  2022cites this paper
• Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes

  2022cites this paper
• Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia

  2022cites this paper
• DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

  2022cites this paper
• The efficacy of acoustic-based articulatory phenotyping for characterizing and classifying four divergent neurodegenerative diseases using sequential motion rates

  2022cites this paper
• Neuroinflammation in Friedreich’s Ataxia

  2022cites this paper
• Ferrochelatase: Mapping the Intersection of Iron and Porphyrin Metabolism in the Mitochondria

  2022cites this paper
• Non-canonical DNA structures: Diversity and disease association

  2022cites this paper
• FRIEDREICH'S ATAXIA AND ITS CARDIOVASCULAR MANIFESTATIONS

  2022cites this paper
• Control of arm movements in Friedreich’s ataxia patients: role of sensory feedback

  2022cites this paper
• Spinal cord damage in Friedreich's ataxia: Results from ENIGMA-Ataxia

  2022cites this paper
• Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation

  2021cites this paper
• Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): from clinical diagnosis towards genetic testing

  2021cites this paper
• Genetics and clinical features of RFC1 CANVAS

  2021cites this paper
• Genetic syndromes with diabetes: A systematic review

  2021cites this paper
• Polyuria and Acute Hyperglycemia Secondary to New-Onset Diabetes in a Young Woman With Friedreich’s Ataxia

  2021cites this paper
• Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich’s Ataxia

  2021influential citation
• Friedreich Ataxia: Multidisciplinary Clinical Care

  2021cites this paper
• Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

  2021cites this paper
• Desarrollo de un sistema de cuantificación de frataxina humana para el diagnóstico complementario y seguimiento de individuos con Ataxia de Friedreich

  2021cites this paper
• The responsiveness of gait and balance outcomes to disease progression in Friedreich ataxia

  2021cites this paper
• Automatic speech recognition in neurodegenerative disease

  2021influential citation
• Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

  2021cites this paper
• Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study

  2021cites this paper
• Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging

  2021cites this paper
• Milestones in genetics of cerebellar ataxias

  2021cites this paper
• Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

  2021cites this paper
• Evaluation of post-translational modifications in histone proteins: A review on histone modification defects in developmental and neurological disorders

  2020cites this paper
• Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia

  2020cites this paper
• Evaluation of post-translational modifications in histone proteins: A review on histone modification defects in developmental and neurological disorders

  2020cites this paper
• Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration

  2020cites this paper
• Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study): A Multicentre, Randomised, Double-Blind, Placebo-Controlled Trial

  2020cites this paper
• Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich’s Ataxia

  2020cites this paper
• Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia

  2020cites this paper
• Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries

  2020cites this paper
• Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia

  2020cites this paper
• The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

  2019cites this paper
• Oral mobility reflects rate of progression in advanced Friedreich’s ataxia

  2019cites this paper
• Profile of Friedreich’s ataxia in a tertiary neurology institute: a study from eastern India

  2019cites this paper
• Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cells

  2019cites this paper
• Identification of a novel missense mutation in Friedreich's ataxia –FXNW 168R

  2019cites this paper
• Effects of tocotrienol supplementation in Friedreich's ataxia: A model of oxidative stress pathology.

  2019cites this paper
• Clinical approach to neurodegenerative disorders in childhood: an updated overview

  2019cites this paper
• Human Mutation

  2019cites this paper
• The Role of Iron in Friedreich’s Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models

  2019cites this paper
• Clinical trial design for Friedreich ataxia - Where are we now and what do we need?

  2018cites this paper
• Cerebral abnormalities in Friedreich ataxia: A review

  2018cites this paper
• Developmental and neurodegenerative damage in Friedreich's ataxia

  2018cites this paper
• FAST-1 antisense RNA epigenetically alters FXN expression

  2018cites this paper
• Iron‐sulfur cluster carrier proteins involved in the assembly of Escherichia coli NADH:ubiquinone oxidoreductase (complex I)

  2018cites this paper
• Investigating novel therapies for Friedreich’s ataxia

  2018cites this paper
• Drosophila melanogaster Models of Friedreich's Ataxia

  2018cites this paper
• Role of frataxin protein deficiency and metabolic dysfunction in Friedreich ataxia, an autosomal recessive mitochondrial disease

  2018cites this paper
• Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India

  2018cites this paper