Neurofilament light chain as a biomarker for diagnosis of multiple sclerosis

Kouchaki, Ebrahim; Dashti, Fatemeh; Mirazimi, Seyed Mohammad Ali; Alirezaei, Zahra; Jafari, Seyed Hamed; Hamblin, Michael R.; Mirzaei, Hamed

doi:10.17179/excli2021-3973

Cited by 12 publications

(5 citation statements)

References 118 publications

(189 reference statements)

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“…Blood NfL is associated with future disease activity and progression [ 65 ]. Patients with baseline higher sNfL levels had higher risk of experiencing relapse, accelerated brain and spinal cord volume loss, and EDSS worsening post blood sampling [ 14 , 29 ].…”

Section: Discussionmentioning

confidence: 99%

Neurofilament light chain in blood as a diagnostic and predictive biomarker for multiple sclerosis: A systematic review and meta-analysis

Ning

Wang

2022

PLoS ONE

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Background Neurofilament light chain (NfL) in cerebrospinal fluid (CSF) is a biomarker of multiple sclerosis (MS). However, CSF sampling is invasive and has limited the clinical application. With the development of highly sensitive single-molecule assay, the accurate quantification of the very low NfL levels in blood become feasible. As evidence being accumulated, we performed a meta-analysis to evaluate the diagnostic and predictive value of blood NfL in MS patients. Methods We performed literature search on PubMed, EMBASE, Web of Science and Cochrane Library from inception to May 31, 2022. The blood NfL differences between MS vs. controls, MS vs. clinically isolated syndrome (CIS), progressive MS (PMS) vs. relapsing-remitting MS (RRMS), and MS in relapse vs. MS in remission were estimated by standard mean difference (SMD) and corresponding 95% confidence interval (CI). Pooled hazard ratio (HR) and 95%CI were calculated to predict time to reach Expanded Disability Status Scale (EDSS) score≥4.0 and to relapse. Results A total of 28 studies comprising 6545 MS patients and 2477 controls were eligible for meta-analysis of diagnosis value, and 5 studies with 4444 patients were synthesized in analysis of predictive value. Blood NfL levels were significantly higher in MS patients vs. age-matched controls (SMD = 0.64, 95%CI 0.44–0.85, P<0.001), vs. non-matched controls (SMD = 0.76, 95%CI 0.56–0.96, P<0.001) and vs. CIS patients (SMD = 0.30, 95%CI 0.18–0.42, P<0.001), in PMS vs. RRMS (SMD = 0.56, 95%CI 0.27–0.85, P<0.001), and in relapsed patients vs. remitted patients (SMD = 0.54, 95%CI 0.16–0.92, P = 0.005). Patients with high blood NfL levels had shorter time to reach EDSS score≥4.0 (HR = 2.36, 95%CI 1.32–4.21, P = 0.004) but similar time to relapse (HR = 1.32, 95%CI 0.90–1.93, P = 0.155) compared to those with low NfL levels. Conclusion As far as we know, this is the first meta-analysis evaluating the diagnosis and predictive value of blood NfL in MS. The present study indicates blood NfL may be a useful biomarker in diagnosing MS, distinguishing MS subtypes and predicting disease worsening in the future.

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Section: Discussionmentioning

confidence: 99%

Neurofilament light chain in blood as a diagnostic and predictive biomarker for multiple sclerosis: A systematic review and meta-analysis

Ning

Wang

2022

PLoS ONE

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“…Neurofilament light chain (NfL) is also a valuable biomarker for the diagnosis of CNS disorders, including multiple sclerosis [205]. Recent studies have further shown that NfL is a promising biomarker for differentiating between idiopathic PD and atypical Parkinsonian syndromes [206].…”

Section: Pd Biomarkersmentioning

confidence: 99%

Retinal Alterations Predict Early Prodromal Signs of Neurodegenerative Disease

Casciano,

Zauli,

Celeghini

et al. 2024

IJMS

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Neurodegenerative diseases are an increasingly common group of diseases that occur late in life with a significant impact on personal, family, and economic life. Among these, Alzheimer’s disease (AD) and Parkinson’s disease (PD) are the major disorders that lead to mild to severe cognitive and physical impairment and dementia. Interestingly, those diseases may show onset of prodromal symptoms early after middle age. Commonly, the evaluation of these neurodegenerative diseases is based on the detection of biomarkers, where functional and structural magnetic resonance imaging (MRI) have shown a central role in revealing early or prodromal phases, although it can be expensive, time-consuming, and not always available. The aforementioned diseases have a common impact on the visual system due to the pathophysiological mechanisms shared between the eye and the brain. In Parkinson’s disease, α-synuclein deposition in the retinal cells, as well as in dopaminergic neurons of the substantia nigra, alters the visual cortex and retinal function, resulting in modifications to the visual field. Similarly, the visual cortex is modified by the neurofibrillary tangles and neuritic amyloid β plaques typically seen in the Alzheimer’s disease brain, and this may reflect the accumulation of these biomarkers in the retina during the early stages of the disease, as seen in postmortem retinas of AD patients. In this light, the ophthalmic evaluation of retinal neurodegeneration could become a cost-effective method for the early diagnosis of those diseases, overcoming the limitations of functional and structural imaging of the deep brain. This analysis is commonly used in ophthalmic practice, and interest in it has risen in recent years. This review will discuss the relationship between Alzheimer’s disease and Parkinson’s disease with retinal degeneration, highlighting how retinal analysis may represent a noninvasive and straightforward method for the early diagnosis of these neurodegenerative diseases.

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“…In the central nervous system, NfL (the most soluble and abundant subunit) is likely to be released from damaged neurons into the blood following neurodegeneration or axonal damage [74]. This makes NfL a valuable marker for neuronal damage, especially in brain diseases such as AD, multiple sclerosis, or motoneuron disease [75][76][77]. Recent studies have shown increased NfL levels in the CSF and blood of patients with AD, with significantly higher plasma NfL levels in patients with AD and MCI than in controls [78].…”

Section: Neurofilament Lightmentioning

confidence: 99%

Circulating Biomarkers for Alzheimer’s Disease: Unlocking the Diagnostic Potential in Low- and Middle-Income Countries, Focusing on Africa

Nwamekang Belinga,

Espourteille,

Wepnyu Njamnshi

et al. 2024

Neurodegener Dis

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Background: Alzheimer's disease (AD) is emerging as a significant public health challenge in Africa, with predictions indicating a tripling in incidence by 2050. The diagnosis of AD on the African continent is notably difficult, leading to late detection that severely limits treatment options and significantly impacts the quality of life for patients and their families. Summary: This review focuses on the potential of high-sensitivity specific blood biomarkers as promising tools for improving AD diagnosis and management globally, particularly in Africa. These advances are particularly pertinent in the continent, where access to medical and technical resources is often limited. Key Messages: Identifying precise, sensitive, and specific blood biomarkers could contribute to the biological characterization and management of Alzheimer's disease in Africa. Such advances promise to improve patient care and pave the way for new regional opportunities in pharmaceutical research and drug trials on the continent for Alzheimer's disease.

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Neurofilament light chain as a biomarker for diagnosis of multiple sclerosis

Cited by 12 publications

References 118 publications

Neurofilament light chain in blood as a diagnostic and predictive biomarker for multiple sclerosis: A systematic review and meta-analysis

Neurofilament light chain in blood as a diagnostic and predictive biomarker for multiple sclerosis: A systematic review and meta-analysis

Retinal Alterations Predict Early Prodromal Signs of Neurodegenerative Disease

Circulating Biomarkers for Alzheimer’s Disease: Unlocking the Diagnostic Potential in Low- and Middle-Income Countries, Focusing on Africa

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