Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from ‘phenocopy’ non-progressors

Eratne, Dhamidhu; Keem, Michael; Lewis, Courtney; Kang, Matthew; Walterfang, Mark; Loi, Samantha M; Kelso, Wendy; Cadwallader, Claire; Berkovic, Samuel F.; Li, Qiao‐Xin; Masters, Colin L.; Collins, Steven J.; Santillo, Alexander; Velakoulis, Dennis

doi:10.1101/2022.01.14.22269323

Cited by 3 publications

(1 citation statement)

References 44 publications

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“…There is also now available evidence on this biomarker in clinical settings with unselected patients [19][20][21]. In daily clinical practice, recent evidence has suggested that plasma NfL could provide guidance for etiological diagnosis of cognitive disorders despite the overlap between neurodegenerative conditions [21,22]. Large efforts are currently being made to introduce plasma NfL in clinical settings, including de ning cut-offs to identify neurodegenerative disorders and reference values for each age group [4,5].…”

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confidence: 99%

Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis: a memory clinic study

Vrillon,

Ashton,

Karikari

et al. 2023

J Neurol

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BackgroundPlasma neuro lament light chain (NfL) is a promising biomarker of axonal and neuronal damage in central nervous system disorders, displaying potential for the differential diagnosis of neurodegenerative diseases. The heavy chain of the neuro laments, and speci cally the phosphorylated form (pNfH), has demonstrated its value in amyotrophic lateral sclerosis diagnosis but has much less been explored in neurocognitive disorders. Our aim was to compare the positive and differential diagnosis performance of NfL, CSF and plasma pNfH in patients from daily clinical practice in Alzheimer's disease (AD) and other dementias. MethodsIn a cross-sectional retrospective study, we compared NfL and pNfH levels in CSF and plasma for AD diagnosis in n = 188 patients from the

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mentioning

confidence: 99%

Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis: a memory clinic study

Vrillon,

Ashton,

Karikari

et al. 2023

J Neurol

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Cerebrospinal fluid neurofilament light improves accurate distinction between neurodegenerative and psychiatric disorders at a cognitive neuropsychiatry service

Kang

Eratne

Dobson

et al. 2022

Preprint

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Objective: People with neuropsychiatric symptoms often experience delay in accurate diagnosis. Although cerebrospinal fluid neurofilament light (CSF NfL) shows promise in distinguishing neurodegenerative disorders (ND) from psychiatric disorders (PSY), its accuracy in a diagnostically challenging cohort longitudinally is unknown. Methods: We collected longitudinal diagnostic information (mean=36 months) from patients assessed at a neuropsychiatry service, categorising diagnoses as ND/mild cognitive impairment/other neurological disorders (ND/MCI/other), and PSY. We pre-specified NfL>582pg/mL as indicative of ND/MCI/other. Results: Diagnostic category changed from initial to final diagnosis for 23% (49/212) of patients. NfL predicted the final diagnostic category for 92% (22/24) of these and predicted final diagnostic category overall (ND/MCI/other vs. PSY) in 88% (187/212), compared to 77% (163/212) with clinical assessment alone. Conclusions: CSF NfL improved diagnostic accuracy, with potential to have led to earlier, accurate diagnosis in a real-world setting using a pre-specified cut-off, adding weight to translation of NfL into clinical practice.

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Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis. A memory clinic study.

Vrillon

Ashton

Karikari

et al. 2023

Preprint

View full text Add to dashboard Cite

Background Plasma neurofilament light chain (NfL) is a promising biomarker of axonal and neuronal damage in central nervous system disorders, displaying potential for the differential diagnosis of neurodegenerative diseases. The heavy chain of the neurofilaments, and specifically the phosphorylated form (pNfH), has demonstrated its value in amyotrophic lateral sclerosis diagnosis but has much less been explored in neurocognitive disorders. Our aim was to compare the positive and differential diagnosis performance of NfL, CSF and plasma pNfH in patients from daily clinical practice in Alzheimer’s disease (AD) and other dementias.Methods In a cross-sectional retrospective study, we compared NfL and pNfH levels in CSF and plasma for AD diagnosis in n = 188 patients from the Center of Cognitive Neurology, Lariboisiere Hospital, Paris, France including AD at the mild cognitive impairment (MCI) stage (AD-MCI, n = 36) and at the dementia stage (n = 64), as well as non-AD MCI (n = 38), non-AD dementia (n = 28) patients and neurological controls (NC) (n = 22). Plasma NfL, plasma and CSF pNfH levels were measured using the Simoa technique and CSF NfL using Elisa.Results NfL and pNfH, in plasma and CSF, were associated with age (rho = 0.259–0.451, P < 0.003). The correlation between CSF and plasma levels was stronger for NfL than pNfH (respectively, rho = 0.77 and rho = 0.52, respectively). Both CSF and plasma NfL and CSF pNfH were associated with CSF p-tau levels in AD patients, but not plasma pNfH. All neurofilament markers were increased in AD-MCI, AD dementia and non-AD dementia compared with NC. CSF NfL, CSF pNfH and plasma NfL showed high performance to discriminate AD at both MCI and dementia stage from control subjects (AUC = 0.82–0.91). Conversely, plasma pNfH displayed overall lower AUCs for discrimination between groups compared with CSF pNfH. Nfs markers showed moderate association with cognition. NfL displayed significant association with mediotemporal lobe atrophy and white matter lesions, in the whole cohort and in the AD subgroup.Conclusion CSF NfL and pNfH as well as plasma NfL displayed equivalent performance in both positive and differential AD diagnosis in a memory clinic setting. In contrast to motoneuron disorders, plasma pNfH did not demonstrate added value as compared with plasma NfL.

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Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from ‘phenocopy’ non-progressors

Cited by 3 publications

References 44 publications

Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis: a memory clinic study

Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis: a memory clinic study

Cerebrospinal fluid neurofilament light improves accurate distinction between neurodegenerative and psychiatric disorders at a cognitive neuropsychiatry service

Comparison of CSF and plasma NfL and pNfH for Alzheimer’s disease diagnosis. A memory clinic study.

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