Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings.
biomarker
dementia
diagnosis
neurofilament
neurology
psychiatric disorders
psychiatry
Journal
Alzheimer's & dementia : the journal of the Alzheimer's Association
ISSN: 1552-5279
Titre abrégé: Alzheimers Dement
Pays: United States
ID NLM: 101231978
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
revised:
26
10
2021
received:
04
06
2021
accepted:
01
11
2021
pubmed:
2
2
2022
medline:
19
11
2022
entrez:
1
2
2022
Statut:
ppublish
Résumé
Many patients with cognitive and neuropsychiatric symptoms face diagnostic delay and misdiagnosis. We investigated whether cerebrospinal fluid (CSF) neurofilament light (NfL) and total-tau (t-tau) could assist in the clinical scenario of differentiating neurodegenerative (ND) from psychiatric disorders (PSY), and rapidly progressive disorders. Biomarkers were examined in patients from specialist services (ND and PSY) and a national Creutzfeldt-Jakob registry (Creutzfeldt-Jakob disease [CJD] and rapidly progressive dementias/atypically rapid variants of common ND, RapidND). A total of 498 participants were included: 197 ND, 67 PSY, 161 CJD, 48 RapidND, and 20 controls. NfL was elevated in ND compared to PSY and controls, with highest levels in CJD and RapidND. NfL distinguished ND from PSY with 95%/78% positive/negative predictive value, 92%/87% sensitivity/specificity, 91% accuracy. NfL outperformed t-tau in most real-life clinical diagnostic dilemma scenarios, except distinguishing CJD from RapidND. We demonstrated strong generalizable evidence for the diagnostic utility of CSF NfL in differentiating ND from psychiatric disorders, with high accuracy.
Substances chimiques
tau Proteins
0
Biomarkers
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2218-2233Informations de copyright
© 2022 the Alzheimer's Association.
Références
Loi SM, Goh AMY, Mocellin R, et al. Time to diagnosis in younger-onset dementia and the impact of a specialist diagnostic service. Int Psychogeriatr. 2020:1-9. https://doi.org/10.1017/S1041610220001489
Draper B, Cations M, White F, et al. Time to diagnosis in young-onset dementia and its determinants: the INSPIRED study. Int J Geriatr Psychiatry. 2016;31:1217-1224.
Eratne D, Loi SM, Farrand S, Kelso W, Velakoulis D, Looi JC. Alzheimer's disease: clinical update on epidemiology, pathophysiology and diagnosis. Australas Psychiatry. 2018;26:347-357.
Rossor MN, Fox NC, Mummery CJ, Schott JM, Warren JD. The diagnosis of young-onset dementia. Lancet Neurol. 2010;9:793-806.
Sansoni J, Duncan C, Grootemaat P, Capell J, Samsa P, Westera A. Younger onset dementia: a review of the literature to inform service development. Am J Alzheimer's Dis Other Dement. 2016;31:693-705.
Ducharme S, Dols A, Laforce R, et al. Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders. Brain. 2020;143:1632-1650.
Masters CL, Bateman R, Blennow K, Rowe CC, Sperling RA, Cummings JL. Alzheimer's disease. Nat Rev Dis Primers. 2015;1:1-18.
Bradford A, Kunik ME, Schulz P, Williams SP, Singh H. Missed and delayed diagnosis of dementia in primary care: prevalence and contributing factors. Alzheimer Dis Assoc Disord. 2009;23:306-314.
van Vliet D, de Vugt ME, Bakker C, et al. Time to diagnosis in young-onset dementia as compared with late-onset dementia. Psychol Med. 2013;43:423-432.
Boise L, Morgan DL, Kaye J, Camicioli R. Delays in the diagnosis of dementia: perspectives of family caregivers. Am J Alzheimer's Dis. 1999;14:20-26.
Loi SM, Eratne D, Goh AMY, et al. A 10 year retrospective cohort study of inpatients with younger-onset dementia. Int J Geriatr Psychiatry. 2021;36:294-301.
Woolley JD, Khan BK, Murthy NK, Miller BL, Rankin KP. The diagnostic challenge of psychiatric symptoms in neurodegenerative disease: rates of and risk factors for prior psychiatric diagnosis in patients with early neurodegenerative disease. J Clin Psychiatry. 2011;72:126-133.
Mendez MF, Parand L, Akhlaghipour G. Bipolar disorder among patients diagnosed with frontotemporal dementia. JNP. 2020;32:376-384.
Eratne D, Loi SM, Walia N, et al. A pilot study of the utility of cerebrospinal fluid neurofilament light chain in differentiating neurodegenerative from psychiatric disorders: a ‘C-reactive protein’ for psychiatrists and neurologists? Aust N Z J Psychiatry. 2020;54:57-67.
Eratne D, Loi SM, Li QX, et al. Cerebrospinal fluid neurofilament light chain is elevated in Niemann-Pick type C compared to psychiatric disorders and healthy controls and may be a marker of treatment response. Aust N Z J Psychiatry. 2020;54:648-649.
Bridel C, Van Wieringen WN, Zetterberg H, et al. Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: a systematic review and meta-analysis. JAMA Neurol. 2019;76:1035-1048.
Gaetani L, Blennow K, Calabresi P, Di Filippo M, Parnetti L, Zetterberg H. Neurofilament light chain as a biomarker in neurological disorders. J Neurol Neurosurg Psychiatry. 2019;90:870-881.
Karantali E, Kazis D, Chatzikonstantinou S, Petridis F, Mavroudis I. The role of neurofilament light chain in frontotemporal dementia: a meta-analysis. Aging Clin Exp Res. 2020;33(4):869-881.
Zhao Y, Xin Y, Meng S, He Z, Hu W. Neurofilament light chain protein in neurodegenerative dementia: a systematic review and network meta-analysis. Neurosci Biobehav Rev. 2019;102:123-138.
Skillback T, Farahmand B, Bartlett JW, et al. CSF neurofilament light differs in neurodegenerative diseases and predicts severity and survival. Neurology. 2014;83:1945-1953.
Spotorno N, Lindberg O, Nilsson C, et al. Plasma neurofilament light protein correlates with diffusion tensor imaging metrics in frontotemporal dementia. PLoS One. 2020;15:1-14.
Khalil M, Teunissen CE, Otto M, et al. Neurofilaments as biomarkers in neurological disorders. Nat Rev Neurol. 2018;14:577-589.
Olsson B, Lautner R, Andreasson U, et al. CSF and blood biomarkers for the diagnosis of Alzheimer's disease: a systematic review and meta-analysis. Lancet Neurol. 2016;15:673-684.
Zetterberg H, Blennow K. Chronic Traumatic Encephalopathy: Fluid Biomarkers. 1st ed.. Elsevier B.V.; 2018.
Van Harten AC, Kester MI, Visser PJ, et al. Tau and p-tau as CSF biomarkers in dementia: a meta-analysis. Clin Chem Lab Med. 2011;49(3):353-366.
Kovacs GG, Andreasson U, Liman V, et al. Plasma and cerebrospinal fluid tau and neurofilament concentrations in rapidly progressive neurological syndromes: a neuropathology-based cohort. Eur J Neurol. 2017;24:1326-1377.
Van Everbroeck B, Boons J, Cras P. Cerebrospinal fluid biomarkers in Creutzfeldt-Jakob disease. Clin Neurol Neurosurg. 2005;107:355-360.
Beyer L, Schnabel J, Kazmierczak P, et al. Neuronal injury biomarkers for assessment of the individual cognitive reserve in clinically suspected Alzheimer's disease. NeuroImage Clin. 2019;24:101949.
Cohen OS, Chapman J, Korczyn AD, et al. CSF tau correlates with CJD disease severity and cognitive decline. Acta Neurol Scand. 2016;133:119-123.
Gao W, Zhang Z, Lv X, et al. Neurofilament light chain level in traumatic brain injury: a system review and meta-analysis. Medicine (Baltimore). 2020;99:e22363.
Li QX, Varghese S, Sarros S, et al. CSF Tau supplements 14-3-3 protein detection for sporadic Creutzfeldt-Jakob disease diagnosis while transitioning to next generation diagnostics. J Clin Neurosci. 2018;50:292-293.
Zetterberg H, Blennow K. Fluid biomarkers for mild traumatic brain injury and related conditions. Nat Rev Neurol. 2016;12:563-574.
Zetterberg H. Review: tau in biofluids-relation to pathology, imaging and clinical features. Neuropathol Appl Neurobiol. 2017;43:194-199.
Jack CR, Bennett DA, Blennow K, et al. NIA-AA Research Framework: toward a biological definition of Alzheimer's disease. Alzheimers Dement. 2018;14:535-562.
Rascovsky K, Hodges JR, Knopman D, et al. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456-2477.
Collins S, Boyd A, Lee JS, et al. Creutzfeldt-Jakob disease in Australia 1970-1999. Neurology. 2002;59:1365-1371.
Lewis V, Hill AF, Klug GM, Boyd A, Masters CL, Collins SJ. Australian sporadic CJD analysis supports endogenous determinants of molecular-clinical profiles. Neurology. 2005;65:113-118.
Ellis KA, Bush AI, Darby D, et al. The Australian Imaging, Biomarkers and Lifestyle (AIBL) study of aging: methodology and baseline characteristics of 1112 individuals recruited for a longitudinal study of Alzheimer's disease. Int Psychogeriatr. 2009;21:672-687.
Doecke JD, Rembach A, Villemagne VL, et al. Concordance between cerebrospinal fluid biomarkers with Alzheimer's disease pathology between three independent assay platforms. JAD. 2017;61:169-183.
Khalil M, Pirpamer L, Hofer E, et al. Serum neurofilament light levels in normal aging and their association with morphologic brain changes. Nat Commun. 2020;11:812-812.
Falgàs N, Balasa M, Bargalló N, et al. Diagnostic accuracy of MRI visual rating scales in the diagnosis of early onset cognitive impairment. JAD. 2020;73:1575-1583.
Fourier A, Formaglio M, Kaczorowski F, et al. A combination of total tau and neurofilaments discriminates between neurodegenerative and primary psychiatric disorders. Eur J Neurol. 2020;27:1164-1169.
Abu-Rumeileh S, Capellari S, Stanzani-Maserati M, et al. The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias. Alzheimer's Res Ther. 2018;10:3.
Abu-Rumeileh S, Baiardi S, Ladogana A, et al. Comparison between plasma and cerebrospinal fluid biomarkers for the early diagnosis and association with survival in prion disease. J Neurol Neurosurg Psychiatry. 2020;91:1181-1188.
Skillbäck T, Rosén C, Asztely F, Mattsson N, Blennow K, Zetterberg H. Diagnostic performance of cerebrospinal fluid total tau and phosphorylated tau in Creutzfeldt-Jakob disease: results from the Swedish Mortality Registry. JAMA Neurol. 2014;71:476-483.
Thompson AGB, Luk C, Heslegrave amanda J, et al. Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression. J Neurol Neurosurg Psychiatry. 2018;0:1-7.
Steinacker P, Blennow K, Halbgebauer S, et al. Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. Sci Rep. 2016;6:38737.
Zerr I, Schmitz M, Karch A, et al. Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. Alzheimers Dement. 2018;14:751-763.