CSF markers of neurodegeneration Alzheimer's and Lewy body pathology in isolated REM sleep behavior disorder.
Journal
NPJ Parkinson's disease
ISSN: 2373-8057
Titre abrégé: NPJ Parkinsons Dis
Pays: United States
ID NLM: 101675390
Informations de publication
Date de publication:
15 Aug 2024
15 Aug 2024
Historique:
received:
04
03
2024
accepted:
26
07
2024
medline:
16
8
2024
pubmed:
16
8
2024
entrez:
15
8
2024
Statut:
epublish
Résumé
We investigated the biomarker profile of neurodegeneration, Alzheimer's and Lewy body pathology in the CSF of 148 polysomnography-confirmed patients with isolated REM sleep behavior disorder (IRBD), a condition that precedes Parkinson's disease (PD) and dementia with Lewy bodies (DLB). We assessed misfolded α-synuclein (AS) by RT-QuIC assay, amyloid-beta peptides (Aβ
Identifiants
pubmed: 39147825
doi: 10.1038/s41531-024-00770-7
pii: 10.1038/s41531-024-00770-7
doi:
Types de publication
Journal Article
Langues
eng
Pagination
157Subventions
Organisme : Fundación BBVA (BBVA Foundation)
ID : Baselga grant
Informations de copyright
© 2024. The Author(s).
Références
Goedert, M., Jakes, R. & Spillantini, M. G. The synucleinopathies: twenty years on. J. Parkinsons Dis. 7, S51–S69 (2017).
doi: 10.3233/JPD-179005
pubmed: 28282814
pmcid: 5345650
Aarsland, D. et al. Parkinson disease-associated cognitive impairment. Nat. Rev. Dis. Prim. 7, 1–21 (2021).
Colom-Cadena, M. et al. Regional overlap of pathologies in Lewy body disorders. Neuropathol. Exp. Neurol. 76, 216–224 (2017).
Jellinger, K. A. Multiple system atrophy. A clinicopathological update. Free Neuropathol. 1, 1-17 (2020).
Iranzo, A., Santamaria, J. & Tolosa, E. Idiopathic rapid eye movement sleep behavior disorder: diagnosis, management, and the need for neuroprotective interventions. Lancet Neurol. 15, 405–419 (2016).
doi: 10.1016/S1474-4422(16)00057-0
pubmed: 26971662
Postuma, R. B. et al. Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behavior disorder: a multicenter study. Brain 142, 744–759 (2019).
doi: 10.1093/brain/awz030
pubmed: 30789229
pmcid: 6391615
Videnovic, A. et al. Clinical trials in REM sleep behavior disorder. Challenges and opportunities. J. Neurol. Neurosurg. Psychiatry 91, 740–749 (2020).
doi: 10.1136/jnnp-2020-322875
pubmed: 32404379
Uchiyama, M. et al. Incidental Lewy body disease in a patient with REM sleep behavior disorder. Neurology 45, 709–712 (1995).
doi: 10.1212/WNL.45.4.709
pubmed: 7723959
Boeve, B. F. et al. Insights into REM sleep behavior disorder pathophysiology in brainstem-predominant Lewy body disease. Sleep Med. 8, 60–64 (2007).
doi: 10.1016/j.sleep.2006.08.017
pubmed: 17157062
Gaig, C. et al. Pathologically description of a nonmotor variant of multiple system atrophy. J. Neurol. Neurosurg. Psychiatry 79, 1399–1400 (2008).
doi: 10.1136/jnnp.2008.145276
pubmed: 19010952
Iranzo, A. et al. Neuropathology of prodromal Lewy body disease. Mov. Disord. 29, 410–415 (2014).
doi: 10.1002/mds.25825
pubmed: 24488760
Maya, G. et al. Neuropathological alterations in subjects initially diagnosed by polysomnography with isolated REM sleep behavior disorder. J. Sleep. Res 31, 78 (2022).
Rossi, M. et al. Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies. Acta Neuropathol. 140, 49–62 (2020).
doi: 10.1007/s00401-020-02160-8
pubmed: 32342188
pmcid: 7299922
Blennow, K., Biscetti, L., Eusebi, P. & Parnetti, L. Cerebrospinal fluid markers in Alzheimer’s disease and Parkinson’s disease. From pathophysiology to clinical practice. Mov. Disord. 31, 836–847 (2016).
doi: 10.1002/mds.26656
pubmed: 27145480
Farotti, L., Paoletti, F. P., Simoni, S. & Parnetti, L. Unraveling pathophysiological mechanisms of Parkinson’s disease: contribution of CSF biomarkers. Biomark. Insights 15, 1–9 (2020).
doi: 10.1177/1177271920964077
van Steenoven, I. et al. Cerebrospinal fluid Alzheimer’s disease biomarkers across the spectrum of Lewy bodies diseases: results from large multicenter cohort. J. Alzheimers Dis. 54, 287–295 (2016).
doi: 10.3233/JAD-160322
pubmed: 27567832
pmcid: 5535729
Lemstra, A. W. et al. Concomitant AD pathology affects clinical manifestation and survival in dementia with Lewy bodies. J. Neurol. Neurosurg. Psychiatry 88, 113–118 (2017).
doi: 10.1136/jnnp-2016-313775
pubmed: 27794030
Quadalti, C. et al. Neurofilament light chain and α-synuclein RT-QuIC as differential diagnostic biomarkers in parkinsonisms and related syndromes. NPJ Parkinsons Dis. 7, 93 (2021).
doi: 10.1038/s41531-021-00232-4
pubmed: 34635674
pmcid: 8505434
Irwin, D. J. et al. Evolution of Alzheimer’s disease cerebrospinal fluid biomarkers in early Parkinson’s disease. Ann. Neurol. 88, 574–587 (2020).
doi: 10.1002/ana.25811
pubmed: 32542885
pmcid: 7497251
Iranzo, A. et al. Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behavior disorder: a longitudinal observational study. Lancet Neurol. 20, 203–212 (2021).
doi: 10.1016/S1474-4422(20)30449-X
pubmed: 33609478
Poggiolini, I. et al. Diagnostic value of cerebrospinal fluid alpha-synuclein seed quantification in synucleinopathies. Brain 145, 584–595 (2022).
doi: 10.1093/brain/awab431
pubmed: 34894214
Iranzo, A. et al. Misfolded α-Synuclein assessment in the skin and CSF by RT-QuIC in isolated REM sleep behavior disorder. Neurology 100, e1944–e1954 (2023).
doi: 10.1212/WNL.0000000000207147
pubmed: 36931726
pmcid: 10159765
Concha-Marambio, L. et al. Accurate detection of α-Synuclein seeds in cerebrospinal fluid from isolated rapid eye movement sleep behavior disorder and patients with Parkinson’s disease in the DeNovo Parkinson (DeNoPa) cohort. Mov. Disord. 38, 567–578 (2023).
doi: 10.1002/mds.29329
pubmed: 36781413
pmcid: 10153075
Fernandes, M. et al. Cerebrospinal-fluid biomarkers for predicting phenoconversion in patients with isolated rapid-eye movement sleep behavior disorder. Sleep 47, zsad198 (2024).
doi: 10.1093/sleep/zsad198
pubmed: 37542734
Aamodt, W. W. et al. Neurofilament light chain as a biomarker for cognitive decline in Parkinson disease. Mov. Disord. 36, 2945–2950 (2021).
doi: 10.1002/mds.28779
pubmed: 34480363
pmcid: 8688198
Bentivenga, G. M. et al. Performance of a seed amplification assay for misfolded alpha-synuclein in cerebrospinal fluid and brain tissue in relation to Lewy body disease stage and pathology burden. Acta Neuropathol. 147, 18 (2024).
doi: 10.1007/s00401-023-02663-0
pubmed: 38240849
pmcid: 10799141
Irwin, D. J. et al. Neuropathological and genetic correlates of survival and dementia onset in synucleinopathies: a retrospective analysis. Lancet Neurol. 16, 55–65 (2017).
doi: 10.1016/S1474-4422(16)30291-5
pubmed: 27979356
pmcid: 5181646
Bridel, C. et al. Diagnostic value of cerebrospinal fluid neurofilament light protein in neurology: a systematic review and meta-analysis. JAMA Neurol. 76, 1035–1048 (2019).
doi: 10.1001/jamaneurol.2019.1534
pubmed: 31206160
pmcid: 6580449
Singer, W. et al. Alpha-synuclein oligomers and neurofilament light chain predict phenoconversion of pure autonomic failure. Ann. Neurol. 89, 1212–1220 (2021).
doi: 10.1002/ana.26089
pubmed: 33881777
pmcid: 8168720
American Academy of Sleep Medicine. International Classification Of Sleep Disorders. 3rd edn. test revision. (American Academy of Sleep Medicine, 2023).
Heinzel, S. et al. Update of the MDS research criteria for prodromal Parkinson’s disease. Mov. Disord. 34, 1464–1470 (2019).
doi: 10.1002/mds.27802
pubmed: 31412427
Postuma, R. B. et al. MDS clinical diagnostic criteria for Parkinson’s disease. Mov. Disord. 30, 1591–1601 (2015).
doi: 10.1002/mds.26424
pubmed: 26474316
McKeith, I. G. et al. Diagnosis and management of dementia with Lewy bodies: fourth consensus report of the DLB Consortium. Neurology 89, 88–100 (2017).
doi: 10.1212/WNL.0000000000004058
pubmed: 28592453
pmcid: 5496518
Wenning, G. K. et al. The Movement Disorder Society Criteria for the diagnosis of multiple system atrophy. Mov. Disord. 37, 1131–1148 (2022).
doi: 10.1002/mds.29005
pubmed: 35445419
pmcid: 9321158