The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia

Frempong, Bernice; Wilson, Robert B.; Schadt, Kimberly; Lynch, David R.

doi:10.3389/fnins.2021.653241

Cited by 6 publications

(4 citation statements)

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“…Data interpretations in transformed scale (ie, of log scale) is another solution. [49][50][51] Although previous systematic reviews have reviewed the NfL levels in genetic ataxia, 37,38 there are clear differences between our study and these reviews. First, we applied a different method (ie, meta-analysis) and statistically integrated the results of included studies, which could increase the validity and reliability of results by increasing the number of observations and statistical power, [52][53][54] even though some of these results have been found in original studies.…”

Section: Figmentioning

confidence: 99%

“…[26][27][28][29][30][31][32][33][34][35][36] However, no comprehensive meta-analysis has ever been conducted to evaluate the potential role of NfL as a biomarker in predicting disease or symptom onset, measuring disease severity, tracking progression, as well as monitoring therapeutic response in genetic ataxia. 27,37,38 Therefore, we firstly performed a meta-analysis to summarize the current scientific literature on cNfL and bNfL including plasma NfL (pNfL) or serum NfL (sNfL) in genetic ataxia. This meta-analysis can provide clinical application value when using NfL levels as a biomarker of genetic ataxia.…”

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confidence: 99%

“…In genetic ataxia, recent studies have found that CSF and blood NfL concentrations were significantly elevated in the early stage of disease, and were closely correlated with disease progression and severity, suggesting that NfL may serve as a biomarker of genetic ataxia 26‐36 . However, no comprehensive meta‐analysis has ever been conducted to evaluate the potential role of NfL as a biomarker in predicting disease or symptom onset, measuring disease severity, tracking progression, as well as monitoring therapeutic response in genetic ataxia 27,37,38 . Therefore, we firstly performed a meta‐analysis to summarize the current scientific literature on cNfL and bNfL including plasma NfL (pNfL) or serum NfL (sNfL) in genetic ataxia.…”

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Blood Neurofilament Light Chain in Genetic Ataxia: A Meta‐Analysis

et al. 2021

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A BS TRACT: Background: No comprehensive metaanalysis has ever been performed to assess the value of neurofilament light chain (NfL) as a biomarker in genetic ataxia.Objective: We conducted a meta-analysis to summarize NfL concentration and evaluate its utility as a biomarker in genetic ataxia. Methods: Studies were included if they reported NfL concentration of genetic ataxia. We used log (mean AE SD) NfL to describe mean raw value of NfL. The effect size of NfL between genetic ataxia and healthy controls (HC) was expressed by mean difference. Correlation between NfL and disease severity was calculated. Results: We identified 11 studies of 624 HC and 1006 patients, here referred to as spinocerebellar ataxia (SCA1, 2, 3, 6, and 7), Friedreich ataxia (FRDA), and ataxia telangiectasia (A-T). The concentration of blood NfL (bNfL) elevated with proximity to expected onset, and progressively increased from asymptomatic to preclinical to clinical stage in SCA3. Compared with HC, bNfL levels were significantly higher in SCA1, 2, 3, and 7, FRDA, as well as A-T, and the difference increased with the advancing disease in SCA3. bNfL levels correlated with disease severity in SCA3. There was a significant correlation between bNfL and longitudinal progression in SCA3. Additionally, bNfL increased with age in HC, yet this is probably masked by higher diseaserelated effects on bNfL in genetic ataxia. Conclusions: bNfL can be used as a potential biomarker to predict disease onset, severity, and progression of genetic ataxia. Reference-value setting of bNfL should

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Blood Neurofilament Light Chain in Genetic Ataxia: A Meta‐Analysis

et al. 2021

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“…The plasma NfL levels observed here in Wolfram syndrome also overlap with those obtained from older (mean age = 57.4 years) individuals with type 1 diabetes [mean (SD) plasma NfL = 13.3 (6.7) pg/mL]. It is possible that between-group factors other than central axonal injury such as peripheral nerve damage, impaired renal function and/or vascular neuropathy may be responsible for elevated plasma NfL levels in individuals with Wolfram syndrome ( Bischof et al, 2018 ; Khalil et al, 2018 ; Sandelius et al, 2018 ; Akamine et al, 2020 ; Frempong et al, 2021 ). Future studies using CSF NfL samples and MR diffusion studies of tissue microstructural integrity, known to be impaired in Wolfram syndrome ( Lugar et al, 2016 ), will help to determine whether the elevated NfL is primarily due to central axonal injury or other aspects of Wolfram syndrome (e.g., diabetes, ER dysfunction) ( Piehl et al, 2018 ; Akamine et al, 2020 ; van der Plas et al, 2021 ).…”

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confidence: 99%

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome

et al. 2022

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Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative process over time requires assessment by costly and time-consuming clinical measures and brain magnetic resonance imaging (MRI). A blood-based measure of neurodegeneration, neurofilament light chain (NfL), is relatively inexpensive and can be repeatedly measured at remote sites, standardized, and measured in individuals with MRI contraindications. To determine whether NfL levels may be of use in disease monitoring and reflect disease activity in Wolfram syndrome, plasma NfL levels were compared between children and young adults with Wolfram syndrome (n = 38) and controls composed of their siblings and parents (n = 35) and related to clinical severity and selected brain region volumes within the Wolfram group. NfL levels were higher in the Wolfram group [median (interquartile range) NfL = 11.3 (7.8–13.9) pg/mL] relative to controls [5.6 (4.5–7.4) pg/mL]. Within the Wolfram group, higher NfL levels related to worse visual acuity, color vision and smell identification, smaller brainstem and thalamic volumes, and faster annual rate of decrease in thalamic volume over time. Our findings suggest that plasma NfL levels can be a powerful tool to non-invasively assess underlying neurodegenerative processes in children, adolescents and young adults with Wolfram syndrome.

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An Understanding of Different Mechanisms Leading to Neurodegenerative Diseases

Sami

Salama

2023

Handbook of Neurodegenerative Disorders

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The Role of Serum Levels of Neurofilament Light (NfL) Chain as a Biomarker in Friedreich Ataxia

Cited by 6 publications

References 57 publications

Blood Neurofilament Light Chain in Genetic Ataxia: A Meta‐Analysis

Blood Neurofilament Light Chain in Genetic Ataxia: A Meta‐Analysis

Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome

An Understanding of Different Mechanisms Leading to Neurodegenerative Diseases

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