ArticleJournal of neurology2020
NfL and pNfH are increased in Friedreich's ataxia.
Article in Journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Biomarkers in Ataxia-Telangiectasia: a Systematic Review.Journal of neurology · 2025Pooled it
- Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia.Cerebellum (London, England) · 2022Trial
- Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study.Cerebellum (London, England) · 2026Article
- Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia.Journal of neurology · 2026Article
- The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias.Brain communications · 2026Review
- Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study.Brain communications · 2025Article
- Serum Neurofilament Light-Chain Concentrations in Essential Tremor: a Case-Control Study.Cerebellum (London, England) · 2024Article
- Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.Journal of neurology · 2024Article
- Comparison of CSF and plasma NfL and pNfH for Alzheimer's disease diagnosis: a memory clinic study.Journal of neurology · 2024Article
- Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia.Heliyon · 2024Article
- Serum Neurofilament Light-Chain Levels in Essential Tremor: A Replication Study.Neuro-degenerative diseases · 2024Article
- Plasma neurofilament light chain concentrations are elevated in youth-onset type 2 diabetes and associated with neuropathy.Journal of the peripheral nervous system : JPNS · 2023Article
- Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4.International journal of molecular sciences · 2022Article
- The 2022 Lady Estelle Wolfson lectureship on neurofilaments.Journal of neurochemistry · 2022Review
- Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.Annals of clinical and translational neurology · 2022Article
- Vasculocentric Axonal NfH in Small Vessel Disease.Journal of neuropathology and experimental neurology · 2022Article
- Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome.Frontiers in neuroscience · 2022Article
- Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.Annals of clinical and translational neurology · 2021Article
- Downregulation of Three Immune-Specific Core Genes and the Regulatory Pathways in Children and Adult Friedreich's Ataxia: A Comprehensive Analysis Based on Microarray.Frontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess neurofilaments as neurodegenerative biomarkers in serum of patients with Friedreich's ataxia.
methodsSingle molecule array measurements of neurofilament light (NfL) and heavy chain (pNfH) in 99 patients with genetically confirmed Friedreich's ataxia. Correlation of NfL/pNfH serum levels with disease severity, disease duration, age, age at onset, and GAA repeat length.
resultsMedian serum levels of NfL were 21.2 pg/ml (range 3.6-49.3) in controls and 26.1 pg/ml (0-78.1) in Friedreich's ataxia (p = 0.002). pNfH levels were 23.5 pg/ml (13.3-43.3) in controls and 92 pg/ml (3.1-303) in Friedreich's ataxia (p = 0.0004). NfL levels were significantly increased in younger patients (age 16-31 years, p < 0.001) and patients aged 32-47 years (p = 0.008), but not in patients of age 48 years and older (p = 0.41). In a longitudinal assessment, there was no difference in NfL levels in 14 patients with repeated sampling 2 years after baseline measurement. Levels of NfL correlated inversely with GAA1 repeat length (r = - 0.24, p = 0.02) but not with disease severity (r = - 0.13, p = 0.22), disease duration (r = - 0.06, p = 0.53), or age at onset (r = 0.05, p = 0.62).
conclusionSerum levels of NfL and pNfH are elevated in Friedreich's ataxia, but differences to healthy controls decrease with increasing age. Long-term longitudinal data are required to explore whether this reflects a selection bias from early death of more severely affected individuals or a slowing down of the neurodegenerative process with age. In a pilot study over 2 years of follow-up-a period relevant for biomarkers indicating treatment effects-we found NfL levels to be stable.
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