ArticleNeurology. Genetics2020
Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.
Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Therapeutic Biomarkers in Friedreich's Ataxia: a Systematic Review and Meta-analysis.Cerebellum (London, England) · 2024Pooled it
- The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis.BMC neurology · 2022Pooled it
- Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives.Cerebellum (London, England) · 2026Article
- Minimal Clinically Important Difference of the Scale for the Assessment and Rating of Ataxia.Movement disorders clinical practice · 2026Article
- Early experience on omaveloxolone in adult patients with Friedreich's ataxia: a real-world observational study.Journal of neurology · 2025Observational
- Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.Biomedicines · 2025Article
- Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.Neurology. Genetics · 2025Article
- Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review.Frontiers in neurology · 2025Review
- Therapeutic Intervention for Trunk Control Impairments in Central Nervous System Disorders: A Comprehensive Review of Methods and Efficacy.Progress in rehabilitation medicine · 2025Review
- Quantitative Speech Assessment in Ataxia-Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Markers.Cerebellum (London, England) · 2024Review
- Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.Annals of clinical and translational neurology · 2023Article
- Determinant of the cerebellar cognitive affective syndrome in Friedreich's ataxia.Journal of neurology · 2023Observational
- Proprioceptive and tactile processing in individuals with Friedreich ataxia: an fMRI study.Frontiers in neurology · 2023Article
- Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).Neurology. Genetics · 2022Article
- Prediction of the disease course in Friedreich ataxia.Scientific reports · 2022Article
- Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Recessive cerebellar and afferent ataxias - clinical challenges and future directions.Nature reviews. Neurology · 2022Review
- Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.Cerebellum (London, England) · 2022Article
- Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia.Human brain mapping · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the pattern of progression of neurologic impairment in Friedreich ataxia (FRDA) and identify patients with fast disease progression as detected by clinical rating scales.
methodsClinical, demographic, and genetic data were analyzed from 54 patients with FRDA included at the Brussels site of the European Friedreich's Ataxia Consortium for Translational Studies, with an average prospective follow-up of 4 years.
resultsAfferent ataxia predated other features of FRDA, followed by cerebellar ataxia and pyramidal weakness. The Scale for the Assessment and Rating of Ataxia (SARA) best detected progression in ambulatory patients and in the first 20 years of disease duration but did not effectively capture progression in advanced disease. Dysarthria, sitting, and upper limb coordination items kept worsening after loss of ambulation. Eighty percent of patients needing support to walk lost ambulation within 2 years. Age at onset had a strong influence on progression of neurologic and functional deficits, which was maximal in patients with symptom onset before age 8 years. All these patients became unable to walk by 15 years after onset, significantly earlier than patients with later onset. Progression in the previous 1 or 2 years was not predictive of progression in the subsequent year.
conclusionsThe SARA is a sensitive outcome measure in ambulatory patients with FRDA and has an excellent correlation with functional capabilities. Ambulatory patients with onset before age 8 years showed the fastest measurable worsening. Loss of ambulation in high-risk patients is a disease milestone that should be considered as an end point in clinical trials.
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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.