Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases

Palermo, Giovanni; Mazzucchi, Sonia; Vecchia, Alessandra Della; Siciliano, Gabriele; Bonuccelli, Ubaldo; Azuar, Carole; Ceravolo, Roberto; Lista, Simone; Hampel, Harald; Baldacci, Filippo

doi:10.1007/s12035-020-02035-9

Cited by 40 publications

(41 citation statements)

References 201 publications

(104 reference statements)

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“…Among the most promising representatives of wet biomarkers is neurofilament light chain (NFL). It is the smallest subunit of neurofilaments and a major component of the neuronal cytoskeleton [49]. Concentration of NFL reflects neurodegeneration within the CNS, as it is released from damaged cells and indicates axonal degeneration.…”

Section: Neurofilament Light Chainmentioning

confidence: 99%

“…Concentration of NFL reflects neurodegeneration within the CNS, as it is released from damaged cells and indicates axonal degeneration. The levels of NFL protein in both CSF and the plasma are tightly correlated and reflect clinical severity in HD patients [49][50][51][52]. Interestingly, Byrne et al indicated that NFL concentration was higher in plasma premanifest and early-stage HD patients than controls, even before the onset of symptoms.…”

Section: Neurofilament Light Chainmentioning

confidence: 99%

“…NFL can be determined using ultrasensitive techniques, such as immunomagnetic reduction (IMR) and the single molecule array (Simoa) in peripheral blood [53]. Results of the most recent research indicate that NFL concentration in blood is closely correlated with CSF and directly reflects neurodegeneration within the CNS in various neurodegenerative diseases, such as Parkinson's disease (PD), Alzheimer's disease (AD), frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS), atypical parkinsonian disorders (APD), traumatic brain injury (TBI), Creutzfeldt-Jakob disease (CJD) or SCA3 [49,[54][55][56][57][58][59]. In consequence, it may lead to becoming a reliable but not disease-specific biomarker of the risk and progression of neurodegeneration [49,50,57,60].…”

Section: Neurofilament Light Chainmentioning

confidence: 99%

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What, When and How to Measure—Peripheral Biomarkers in Therapy of Huntington’s Disease

Przybył

Woźna-Wysocka

Kozłowska

et al. 2021

IJMS

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Among the main challenges in further advancing therapeutic strategies for Huntington’s disease (HD) is the development of biomarkers which must be applied to assess the efficiency of the treatment. HD is a dreadful neurodegenerative disorder which has its source of pathogenesis in the central nervous system (CNS) but is reflected by symptoms in the periphery. Visible symptoms include motor deficits and slight changes in peripheral tissues, which can be used as hallmarks for prognosis of the course of HD, e.g., the onset of the disease symptoms. Knowing how the pathology develops in the context of whole organisms is crucial for the development of therapy which would be the most beneficial for patients, as well as for proposing appropriate biomarkers to monitor disease progression and/or efficiency of treatment. We focus here on molecular peripheral biomarkers which could be used as a measurable outcome of potential therapy. We present and discuss a list of wet biomarkers which have been proposed in recent years to measure pre- and postsymptomatic HD. Interestingly, investigation of peripheral biomarkers in HD can unravel new aspects of the disease pathogenesis. This especially refers to inflammatory proteins or specific immune cells which attract scientific attention in neurodegenerative disorders.

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Section: Neurofilament Light Chainmentioning

confidence: 99%

Section: Neurofilament Light Chainmentioning

confidence: 99%

Section: Neurofilament Light Chainmentioning

confidence: 99%

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What, When and How to Measure—Peripheral Biomarkers in Therapy of Huntington’s Disease

Przybył

Woźna-Wysocka

Kozłowska

et al. 2021

IJMS

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“…Lewy-related pathology (LRP), primarily consisting of α-synuclein (α-syn) aggregates, has been detected in more than half of autopsied AD brains, and higher levels of α-syn in the CSF of patients with MCI and AD have been associated with AD pathology and cognitive decline [248,249]. Moreover, CSF total α-syn (t-α-syn) and oligomeric α-synuclein (o-α-syn) levels were higher in AD [250] compared to PD, PD dementia and DLB individuals [251,252]. The use of standard ELISA methods to assess CSF α-syn levels does not ensure good diagnostic accuracy in discriminating AD from synucleinopathies [250].…”

Section: Toward Alternative Pathophysiological Pathways and Novel Matmentioning

confidence: 99%

“…Finally, other easily accessible matrices such as the retina may represent an open window on early neurodegenerative events in AD [249]. Amyloid pathology was demonstrated in the retina, and high-resolution non-invasive retinal imaging [47][48][49][50][51] represents an in vivo approach for visualizing Aβ deposits [250][251][252]. Indeed, retinal Aβ accumulation positively correlated with cerebral amyloid plaques [8].…”

Section: Toward Alternative Pathophysiological Pathways and Novel Matmentioning

confidence: 99%

Fluid Candidate Biomarkers for Alzheimer’s Disease: A Precision Medicine Approach

Prete

Beatino

Campese

et al. 2020

JPM

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A plethora of dynamic pathophysiological mechanisms underpins highly heterogeneous phenotypes in the field of dementia, particularly in Alzheimer’s disease (AD). In such a faceted scenario, a biomarker-guided approach, through the implementation of specific fluid biomarkers individually reflecting distinct molecular pathways in the brain, may help establish a proper clinical diagnosis, even in its preclinical stages. Recently, ultrasensitive assays may detect different neurodegenerative mechanisms in blood earlier. ß-amyloid (Aß) peptides, phosphorylated-tau (p-tau), and neurofilament light chain (NFL) measured in blood are gaining momentum as candidate biomarkers for AD. P-tau is currently the more convincing plasma biomarker for the diagnostic workup of AD. The clinical role of plasma Aβ peptides should be better elucidated with further studies that also compare the accuracy of the different ultrasensitive techniques. Blood NFL is promising as a proxy of neurodegeneration process tout court. Protein misfolding amplification assays can accurately detect α-synuclein in cerebrospinal fluid (CSF), thus representing advancement in the pathologic stratification of AD. In CSF, neurogranin and YKL-40 are further candidate biomarkers tracking synaptic disruption and neuroinflammation, which are additional key pathophysiological pathways related to AD genesis. Advanced statistical analysis using clinical scores and biomarker data to bring together individuals with AD from large heterogeneous cohorts into consistent clusters may promote the discovery of pathophysiological causes and detection of tailored treatments.

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Evaluation of Serum Neurofilament Light Chain and Nerve Ultrasound in Diabetic Neuropathy

Nasr‐Eldin,

Cartwright,

Hamed

et al. 2023

J of Ultrasound Medicine

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ObjectiveTo assess the role of serum neurofilament light chain (NfL) levels in individuals with diabetic polyneuropathy (DPN) compared with controls, as well as to highlight the different sonographic changes in DPN and determine if NfL correlates with sonographic, clinical, and functional parameters.MethodsDiabetic individuals with signs or symptoms consistent with peripheral nerve involvement were recruited. They were evaluated by examination, functional neuropathy severity scores, laboratory assessments (including NfL), nerve conduction studies (NCS), and ultrasound. Ultrasound was performed of the bilateral median, ulnar, tibial, fibular, sural, and vagus nerves, and cervical roots 5 and 6. Results were compared with age, sex, and body mass index matched healthy controls.ResultsA total of 320 nerves from 20 patients and 480 nerves from 30 controls were evaluated. NfL was significantly elevated in those with diabetes with a mean and standard deviation of 6.95 ± 2.95 pg/mL in the diabetic group and 2.83 ± 0.77 pg/mL in controls (P < .001). Nerve cross‐sectional area and serum NfL levels correlated significantly with clinical and functional parameters and with each other (P < .05).ConclusionIndividuals with DPN have significantly higher NfL levels than healthy controls, and NfL levels correlate with ultrasonographic parameters. These findings may be useful for the diagnosis, prognosis, and disease monitoring of those with DPN, though further exploration is needed.

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Different Clinical Contexts of Use of Blood Neurofilament Light Chain Protein in the Spectrum of Neurodegenerative Diseases

Cited by 40 publications

References 201 publications

What, When and How to Measure—Peripheral Biomarkers in Therapy of Huntington’s Disease

What, When and How to Measure—Peripheral Biomarkers in Therapy of Huntington’s Disease

Fluid Candidate Biomarkers for Alzheimer’s Disease: A Precision Medicine Approach

Evaluation of Serum Neurofilament Light Chain and Nerve Ultrasound in Diabetic Neuropathy

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