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References from The role of neurofilament light chain and other fluid biomarkers in cerebellar ataxias. Local targets link to admitted publications; unresolved targets remain external evidence.
Neurofilament light chain as a biomarker in neurological disorders
10.1136/jnnp-2018-320106 · 2019 · External reference
Comparison of three analytical platforms for quantification of the neurofilament light chain in blood samples: ELISA, electrochemiluminescence immunoassay and Simoa
10.1515/cclm-2015-1195 · 2016 · External reference
Neurofilaments as biomarkers in neurological disorders
10.1038/s41582-018-0058-z · 2018 · External reference
Measuring neurofilament light in human plasma and cerebrospinal fluid: A comparison of five analytical immunoassays
2025 · External reference
Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion
10.1002/ana.25276 · 2018 · External reference
Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis
10.1212/wnl.0000000000001642 · 2015 · External reference
Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: Validation and implications for clinical trial design and analysis
10.1016/j.ebiom.2024.105323 · 2024 · External reference
Stage-specific links between plasma neurofilament light and imaging biomarkers of Alzheimer’s disease
10.1093/brain/awaa342 · 2020 · External reference
Association between longitudinal plasma neurofilament light and neurodegeneration in patients with Alzheimer disease
10.1001/jamaneurol.2019.0765 · 2019 · External reference
Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease
10.1038/s41591-018-0304-3 · 2019 · External reference
Serum neurofilament light chain levels in patients with presymptomatic multiple sclerosis
10.1001/jamaneurol.2019.3238 · 2020 · External reference
Blood neurofilament light chain as a biomarker of MS disease activity and treatment response
10.1212/wnl.0000000000007032 · 2019 · External reference
Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington’s disease: A retrospective cohort analysis
10.1016/s1474-4422(17)30124-2 · 2017 · External reference
Neurofilament light protein in blood predicts regional atrophy in Huntington disease
10.1212/wnl.0000000000005005 · 2018 · External reference
Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington’s Disease Young Adult Study (HD-YAS): A cross-sectional analysis
10.1016/s1474-4422(20)30143-5 · 2020 · External reference
Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3
10.1186/s13024-019-0338-0 · 2019 · External reference
Levels of neurofilament light at the preataxic and ataxic stages of spinocerebellar ataxia type 1
10.1212/wnl.0000000000200257 · 2022 · External reference
Association of the level of neurofilament light with disease severity in patients with spinocerebellar ataxia type 2
10.1212/wnl.0000000000012945 · 2021 · External reference
Altered cerebrospinal fluid (CSF) in children with ataxia telangiectasia
10.1007/s12311-020-01175-x · 2021 · External reference
Neurofilament light chain is a biomarker of neurodegeneration in ataxia telangiectasia
10.1007/s12311-021-01257-4 · 2022 · External reference
Correction to: Neurofilament light chain is a biomarker of neurodegeneration in ataxia telangiectasia
10.1007/s12311-021-01280-5 · 2022 · External reference
High serum GFAP levels in SCA3/MJD may not correlate with disease progression
10.1007/s12311-015-0667-7 · 2015 · External reference
Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: A pilot study
10.1007/s00415-018-8893-9 · 2018 · External reference
Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxia
10.1016/j.nbd.2021.105311 · 2021 · External reference
Multimodal, longitudinal profiling of SCA1 identifies predictors of disease severity and progression
10.1002/ana.27032 · 2024 · External reference
Longitudinal changes of clinical, imaging, and fluid biomarkers in preataxic and early ataxic spinocerebellar ataxia type 2 and 7 carriers
10.1212/wnl.0000000000209749 · 2024 · External reference
Progression of biological markers in spinocerebellar ataxia type 3: Longitudinal analysis of prospective data from the ESMI cohort
10.1016/j.lanepe.2025.101339 · 2025 · External reference
Impact of age on neurofilament light chain in Friedreich ataxia: A 1-year longitudinal study
10.1093/braincomms/fcaf331 · 2025 · External reference
Increase of plasma biomarkers in Friedreich’s ataxia: Potential insights into disease pathology
10.1002/mds.30250 · 2025 · External reference
Neurofilament light chain as a potential biomarker of disease status in Friedreich ataxia
10.1007/s00415-020-09868-3 · 2020 · External reference
Nfl and pNfH are increased in Friedreich’s ataxia
10.1007/s00415-020-09722-6 · 2020 · External reference
Cerebrospinal fluid biomarkers in spinocerebellar ataxia: A pilot study
2015 · External reference
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3
10.1111/ene.15373 · 2022 · External reference
Evaluating glial fibrillary acidic protein and neurofilament light as potential biomarkers for spinocerebellar ataxia 7
10.3390/ijms26115070 · 2025 · External reference
Systematic assessment of plasma biomarkers in spinocerebellar ataxia
10.1016/j.nbd.2023.106112 · 2023 · External reference
Plasma markers of neurodegeneration are raised in Friedreich’s ataxia
10.3389/fncel.2018.00366 · 2018 · External reference
Head-to-head comparison of 6 plasma biomarkers in early multiple system atrophy
10.1038/s41531-023-00481-5 · 2023 · External reference
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
10.1126/scitranslmed.abb7086 · 2020 · External reference
Polyglutamine-expanded ataxin-3: A target engagement marker for spinocerebellar ataxia type 3 in peripheral blood
10.1002/mds.28749 · 2021 · External reference
PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: A pilot study
10.1007/s00415-020-10274-y · 2021 · External reference
The ratio of expanded to normal ataxin 3 in peripheral blood mononuclear cells correlates with the age at onset in spinocerebellar ataxia type 3
10.1002/mds.28962 · 2022 · External reference
Liquid chromatography-mass spectrometry analysis of frataxin proteoforms in whole blood as biomarkers of the genetic disease Friedreich’s ataxia
10.1021/acs.analchem.3c00091 · 2023 · External reference
Liquid chromatography-high resolution mass spectrometry analysis of platelet frataxin as a protein biomarker for the rare disease Friedreich’s ataxia
10.1021/acs.analchem.7b04590 · 2018 · External reference
Simultaneous quantification of mitochondrial mature frataxin and extra-mitochondrial frataxin isoform E in Friedreich’s ataxia blood
10.3389/fnins.2022.874768 · 2022 · External reference
Serum neurofilament light chain reference database for individual application in paediatric care: A retrospective modelling and validation study
10.1016/s1474-4422(23)00210-7 · 2023 · External reference
Neurofilament light protein as a biomarker for spinal muscular atrophy: A review and reference ranges
10.1515/cclm-2023-1311 · 2024 · External reference
Plasma NfL levels and longitudinal change rates in C9orf72 and GRN-associated diseases: From tailored references to clinical applications
10.1136/jnnp-2021-326914 · 2021 · External reference
Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: A systematic review and meta-analysis
10.1001/jamaneurol.2019.1534 · 2019 · External reference
Renal function is associated with blood neurofilament light chain level in older adults
10.1038/s41598-020-76990-7 · 2020 · External reference
Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3
10.1212/wnl.0000000000010671 · 2020 · External reference
Neurofilaments in spinocerebellar ataxia type 3: Blood biomarkers at the preataxic and ataxic stage in humans and mice
10.15252/emmm.201911803 · 2020 · External reference
Prevalence, severity, and progression of cerebellar cognitive-affective syndrome in patients with spinocerebellar ataxias
10.1212/wnl.0000000000213980 · 2025 · External reference
Baseline clinical and blood biomarkers in patients with preataxic and early-stage disease spinocerebellar ataxia 1 and 3
2023 · External reference
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: A longitudinal cohort study
10.1016/s1474-4422(15)00202-1 · 2015 · External reference
Stage-dependent biomarker changes in spinocerebellar ataxia type 3
10.1002/ana.26824 · 2024 · External reference
ATXN7-related cone-rod dystrophy: The integrated functional evaluation of the cerebellum (CERMOI) study
10.1001/jamaophthalmol.2024.0001 · 2024 · External reference
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
10.1016/j.ebiom.2023.104931 · 2024 · External reference
Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia
10.1056/nejmoa2207406 · 2023 · External reference
GAA-FGF14 ataxia (SCA27B): Phenotypic profile, natural history progression and 4-aminopyridine treatment response
10.1093/brain/awad157 · 2023 · External reference
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: A large cohort study
10.1016/j.ebiom.2024.105077 · 2024 · External reference
GAA repeat expansion mutation mouse models of friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
10.1016/j.ygeno.2006.06.015 · 2006 · External reference
Exploring mitochondrial biomarkers for friedreich’s ataxia: A multifaceted approach
10.1007/s00415-024-12223-5 · 2024 · External reference
Clinical stage and plasma neurofilament concentration in adults with Friedreich ataxia
10.1016/j.heliyon.2023.e23347 · 2024 · External reference
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
10.1038/s41588-019-0372-4 · 2019 · External reference
Serum neurofilament light chain in replication factor complex subunit 1 CANVAS and disease spectrum
10.1002/mds.29680 · 2024 · External reference
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
10.1212/wnl.0000000000007606 · 2019 · External reference
Predictive clinical factors for the progression from idiopathic late-onset cerebellar ataxia to multiple system atrophy cerebellar type
10.1007/s00415-025-13292-w · 2025 · External reference
Evolution of clinical outcome measures and biomarkers in sporadic adult-onset degenerative ataxia
10.1002/mds.29324 · 2023 · External reference
Neurofilament light levels predict clinical progression and death in multiple system atrophy
10.1093/brain/awac253 · 2022 · External reference
Disease progression in multiple system atrophy: The ASPIRE multi-modal biomarker study
10.1002/ana.70028 · 2026 · External reference
Neurofilament light chain predicts disease severity and progression in multiple system atrophy
10.1002/mds.28847 · 2022 · External reference
Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access program
10.1016/j.eclinm.2024.102495 · 2024 · External reference
Trial of antisense oligonucleotide Tofersen for SOD1 ALS
10.1056/nejmoa2204705 · 2022 · External reference
Long-term dynamics of CSF and serum neurofilament light chain in adult patients with 5q spinal muscular atrophy treated with Nusinersen
10.1212/wnl.0000000000213371 · 2025 · External reference
NFL is a marker of treatment response in children with SMA treated with nusinersen
10.1007/s00415-019-09389-8 · 2019 · External reference
Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen
10.1007/s13760-025-02784-1 · 2025 · External reference
Targeting huntingtin expression in patients with Huntington’s disease
10.1056/nejmoa1900907 · 2019 · External reference
Baseline characteristics for INFRONT-3: A phase 3 double-blind, placebo-controlled 96-week study evaluating latozinemab in FTD-GRN (P8-3.005)
10.1212/wnl.0000000000211441 · 2025 · External reference
Design of a randomized, placebo-controlled, phase 3 trial of Tofersen initiated in clinically presymptomatic SOD1 variant carriers: The ATLAS study
10.1007/s13311-022-01237-4 · 2022 · External reference
Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3
10.1016/j.parkreldis.2021.07.018 · 2021 · External reference
Blood GFAP as an emerging biomarker in brain and spinal cord disorders
10.1038/s41582-021-00616-3 · 2022 · External reference
Increased transcription of the astrocyte gene GFAP during middle-age is attenuated by food restriction: Implications for the role of oxidative stress
10.1016/s0891-5849(97)00120-2 · 1997 · External reference
Alexander disease: Putative mechanisms of an astrocytic encephalopathy
10.1007/s00018-003-3143-3 · 2004 · External reference
Prediction of clinical progression in nervous system diseases: Plasma glial fibrillary acidic protein (GFAP)
10.1186/s40001-023-01631-4 · 2024 · External reference
CSF and blood biomarkers for the diagnosis of Alzheimer’s disease: A systematic review and meta-analysis
10.1016/s1474-4422(16)00070-3 · 2016 · External reference
Comparison of cerebrospinal fluid tau, ptau(181), synuclein, and 14-3-3 for the detection of Creutzfeldt-Jakob disease in clinical practice
10.1007/s00702-021-02443-8 · 2022 · External reference
Cerebrospinal fluid total tau concentration predicts clinical phenotype in Huntington’s disease
10.1111/jnc.13719 · 2016 · External reference
The presence of select Tau Species in human peripheral tissues and their relation to Alzheimer’s disease
10.3233/jad-150859 · 2016 · External reference
Blood plasma phosphorylated-tau isoforms track CNS change in Alzheimer’s disease
10.1084/jem.20200861 · 2020 · External reference
Brain-derived tau: A novel blood-based biomarker for Alzheimer’s disease-type neurodegeneration
10.1093/brain/awac407 · 2023 · External reference
High molecular weight tau: Preferential localization in the peripheral nervous system
10.1242/jcs.100.1.55 · 1991 · External reference
TR-FRET-based immunoassay to measure ataxin-2 as a target engagement marker in spinocerebellar ataxia type 2
10.1007/s12035-023-03294-y · 2023 · External reference
Pharmacological therapeutics in Friedreich ataxia: The present state
10.1080/14737175.2017.1356721 · 2017 · External reference
DNA repair in the trinucleotide repeat disorders
10.1016/s1474-4422(16)30350-7 · 2017 · External reference
Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease
10.1016/j.cell.2024.11.038 · 2025 · External reference
CAG repeat mosaicism is gene specific in spinocerebellar ataxias
10.1016/j.ajhg.2024.03.015 · 2024 · External reference
Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum
10.1093/brain/awae312 · 2025 · External reference
Standards of fluid biomarker collection and pre-analytical processes in humans and mice: Recommendations by the ataxia global initiative working group on biomarkers
10.1007/s12311-023-01561-1 · 2024 · External reference