ArticleMovement disorders : official journal of the Movement Disorder Society2008
Predictors of progression in patients with Friedreich ataxia.
Article in Movement disorders : official journal of the Movement Disorder Society, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Myeloid cell replacement induces intercellular mitochondrial transfer and restores metabolism in a mouse model of mitochondrial disease.Nature communications · 2026Article
- Management and Prevention of Neurodegenerative Disorders: Can Antioxidant-Rich Dietary Interventions Help?Antioxidants (Basel, Switzerland) · 2025Review
- Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction.Disease models & mechanisms · 2025Article
- Sequencing through hyperexpanded Friedreich's ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation.Brain communications · 2023Article
- Review
- Genetic and Epigenetic Interplay Define Disease Onset and Severity in Repeat Diseases.Frontiers in aging neuroscience · 2022Review
- Neuro-Ophthalmological Findings in Friedreich's Ataxia.Journal of personalized medicine · 2021Review
- Scoliosis in Friedreich's ataxia: longitudinal characterization in a large heterogeneous cohort.Annals of clinical and translational neurology · 2021Observational
- Predictors of loss of ambulation in Friedreich's ataxia.EClinicalMedicine · 2020Article
- Orphan Drugs In Development For The Treatment Of Friedreich's Ataxia: Focus On Omaveloxolone.Degenerative neurological and neuromuscular disease · 2019Article
- Impact of diabetes in the Friedreich ataxia clinical outcome measures study.Annals of clinical and translational neurology · 2017Article
- Sensitivity of spatiotemporal gait parameters in measuring disease severity in Friedreich ataxia.Cerebellum (London, England) · 2014Article
- Dysphagia and swallowing-related quality of life in Friedreich ataxia.Journal of neurology · 2014Article
- Inherited neuropathies: clinical overview and update.Muscle & nerve · 2013Review
- A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.Neurogenetics · 2011Article
- Current and emerging treatment options in the management of Friedreich ataxia.Neuropsychiatric disease and treatment · 2010Article
- Maternal transmission of Alzheimer's disease: prodromal metabolic phenotype and the search for genes.Human genomics · 2010Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Friedreich ataxia is an inherited, progressive, neurodegenerative disorder that is clinically heterogeneous. It is caused by a trinucleotide (GAA) repeat expansion resulting in frataxin loss and oxidative stress. We assessed clinical features including the development of cardiomyopathy and scoliosis and disease progression including loss of ambulation and interference with activities of daily living relative to the length of the GAA repeat, age of onset, and age of diagnosis in a retrospective cohort study of 61 genetically confirmed patients. The use of antioxidants such as vitamins, dietary supplements, and idebenone was also examined. Linear regression and Cox proportional hazard models assessed predictors to disease milestones. The shorter GAA allele accounted for part of the variability in the age of diagnosis (46%) and less in the age of onset (27%). Multivariate analysis demonstrated that age at diagnosis, which may incorporate other genetic and environmental factors, is more important than GAA length in predicting cardiomyopathy, scoliosis, and disease progression.
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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.