Review

Critically appraised topic on Rapid Eye Movement Behavior Disorder: From protein misfolding processes to clinical pathophysiology and conversion to neurodegenerative disorders

  • Received: 24 February 2023 Revised: 19 June 2023 Accepted: 24 June 2023 Published: 29 June 2023
  • Background 

    REM Behavior Disorder (RBD) is considered one of most powerful prodromal condition in different neurodegenerative disorders, mainly alpha-synucleinopathies. A large amount of research recently explored this relationship.

    Objective and Design 

    The present critically appraised review undertakes this topic, from the perspective of the pathogenetic interplay between clinical manifestations in RBD patients and the misfolding processes that characterize neurodegeneration. In particular, evidence in favor and against the role of RBD as a biomarker of neurodegeneration is discussed.

    Results and Conclusion 

    The selected papers were functional to structure the review into three main sections: 1) Protein misfolding in neurodegenerative disorders with focus on alpha-synuclein; 2) Clinical features, diagnosis, and pathophysiology of RBD; 3) RBD as a clinical biomarker of protein misfolding. Data herein highlights the current knowledge and the areas of uncertainties in the relationship between RBD and neurodegenerative disorders; we went through preclinical, prodromal and clinical stages of neurodegenerative processes as a useful reference for clinicians involved in brain pathological aging and future research in this field.

    Citation: Andrea Bernardini, Gaia Pellitteri, Giovanni Ermanis, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes. Critically appraised topic on Rapid Eye Movement Behavior Disorder: From protein misfolding processes to clinical pathophysiology and conversion to neurodegenerative disorders[J]. AIMS Molecular Science, 2023, 10(2): 127-152. doi: 10.3934/molsci.2023010

    Related Papers:

  • Background 

    REM Behavior Disorder (RBD) is considered one of most powerful prodromal condition in different neurodegenerative disorders, mainly alpha-synucleinopathies. A large amount of research recently explored this relationship.

    Objective and Design 

    The present critically appraised review undertakes this topic, from the perspective of the pathogenetic interplay between clinical manifestations in RBD patients and the misfolding processes that characterize neurodegeneration. In particular, evidence in favor and against the role of RBD as a biomarker of neurodegeneration is discussed.

    Results and Conclusion 

    The selected papers were functional to structure the review into three main sections: 1) Protein misfolding in neurodegenerative disorders with focus on alpha-synuclein; 2) Clinical features, diagnosis, and pathophysiology of RBD; 3) RBD as a clinical biomarker of protein misfolding. Data herein highlights the current knowledge and the areas of uncertainties in the relationship between RBD and neurodegenerative disorders; we went through preclinical, prodromal and clinical stages of neurodegenerative processes as a useful reference for clinicians involved in brain pathological aging and future research in this field.



    加载中

    Acknowledgments



    We would like to thank Prof. Gian Luigi Gigli for kindly revising this paper.

    [1] Cao Q, Tan CC, Xu W, et al. (2020) The prevalence of dementia: A systematic review and meta-analysis. J Alzheimers Dis 73: 1157-1166. https://doi.org/10.3233/JAD-191092
    [2] Heinzel S, Berg D, Gasser T, et al. (2019) Update of the MDS research criteria for prodromal Parkinson's disease. Mov Disord 34: 1464-1470. https://doi.org/10.1002/mds.27802
    [3] Ahn EH, Kang SS, Liu X, et al. (2020) Initiation of Parkinson's disease from gut to brain by δ-secretase. Cell Res 30: 70-87. https://doi.org/10.1038/s41422-019-0241-9
    [4] Sohrab SS, Suhail M, Ali A, et al. (2018) Role of viruses, prions and miRNA in neurodegenerative disorders and dementia. VirusDis 29: 419-433. https://doi.org/10.1007/s13337-018-0492-y
    [5] Baev AY, Vinokurov AY, Novikova IN, et al. (2022) Interaction of mitochondrial calcium and ROS in neurodegeneration. Cells 11: 706. https://doi.org/10.3390/cells11040706
    [6] Kovacs GG (2016) Molecular pathological classification of neurodegenerative diseases: Turning towards precision medicine. Int J Mol Sci 17: 189. https://doi.org/10.3390/ijms17020189
    [7] Scialò C, De Cecco E, Manganotti P, et al. (2019) Prion and prion-like protein strains: Deciphering the molecular basis of heterogeneity in neurodegeneration. Viruses 11: 261. https://doi.org/10.3390/v11030261
    [8] Nelson PT, Dickson DW, Trojanowski JQ, et al. (2019) Limbic-predominant age-related TDP-43 encephalopathy (LATE): Consensus working group report. Brain 142: 1503-1527. https://doi.org/10.1093/brain/awz099
    [9] Ghemrawi R, Khair M (2020) Endoplasmic reticulum stress and unfolded protein response in neurodegenerative diseases. Int J Mol Sci 21: 6127. https://doi.org/10.3390/ijms21176127
    [10] Oakes SA, Papa FR (2015) The role of endoplasmic reticulum stress in human pathology. Annu Rev Pathol-Mech 10: 173-194. https://doi.org/10.1146/annurev-pathol-012513-104649
    [11] Ma Y, Hendershot LM (2004) ER chaperone functions during normal and stress conditions. J Chem Neuroanat 28: 51-65. https://doi.org/10.1016/j.jchemneu.2003.08.007
    [12] Chiti F, Dobson CM (2017) Protein misfolding, amyloid formation, and human disease: A summary of progress over the last decade. Annu Rev Biochem 86: 27-68. https://doi.org/10.1146/annurev-biochem-061516-045115
    [13] Glabe CG (2006) Common mechanisms of amyloid oligomer pathogenesis in degenerative disease. Neurobiol Aging 27: 570-575. https://doi.org/10.1016/j.neurobiolaging.2005.04.017
    [14] Roberts HL, Brown DR (2015) Seeking a mechanism for the toxicity of oligomeric α-synuclein. Biomolecules 5: 282-305. https://doi.org/10.3390/biom5020282
    [15] Kaur S, Verma H, Dhiman M, et al. (2021) Brain exosomes: Friend or foe in Alzheimer's disease?. Mol Neurobiol 58: 6610-6624. https://doi.org/10.1007/s12035-021-02547-y
    [16] Soto C, Pritzkow S (2018) Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases. Nat Neurosci 21: 1332-1340. https://doi.org/https://doi.org/10.1038/s41593-018-0235-9
    [17] Jarrett JT, Lansbury PT (1993) Seeding “one-dimensional crystallization” of amyloid: A pathogenic mechanism in Alzheimer's disease and scrapie?. Cell 73: 1055-1058. https://doi.org/10.1016/0092-8674(93)90635-4
    [18] Soto C, Estrada L, Castilla J (2006) Amyloids, prions and the inherent infectious nature of misfolded protein aggregates. Trends Biochem Sci 31: 150-155. https://doi.org/10.1016/j.tibs.2006.01.002
    [19] Melki R (2018) How the shapes of seeds can influence pathology. Neurobiol Dis 109: 201-208. https://doi.org/10.1016/j.nbd.2017.03.011
    [20] Prusiner SB (1982) Novel proteinaceous infectious particles cause scrapie. Science 216: 136-144. https://doi.org/10.1126/science.6801762
    [21] Soto C (2012) Transmissible proteins: expanding the prion heresy. Cell 149: 968-977. https://doi.org/10.1016/j.cell.2012.05.007
    [22] Aguzzi A, Lakkaraju AKK (2016) Cell biology of prions and prionoids: A status report. Trends Cell Biol 26: 40-51. https://doi.org/10.1016/j.tcb.2015.08.007
    [23] Liberski PP, Gajos A, Sikorska B, et al. (2019) Kuru, the first human prion disease. Viruses 11: 232. https://doi.org/10.3390/v11030232
    [24] Das AS, Zou WQ (2016) Prions: Beyond a single protein. Clin Microbiol Rev 29: 633-658. https://doi.org/10.1128/CMR.00046-15
    [25] Polymenidou M, Cleveland DW (2012) Prion-like spread of protein aggregates in neurodegeneration. J Exp Med 209: 889-893. https://doi.org/10.1084/jem.20120741
    [26] Luk KC, Kehm VM, Zhang B, et al. (2012) Intracerebral inoculation of pathological α-synuclein initiates a rapidly progressive neurodegenerative α-synucleinopathy in mice. J Exp Med 209: 975-986. https://doi.org/10.1084/jem.20112457
    [27] Bousset L, Pieri L, Ruiz-Arlandis G, et al. (2013) Structural and functional characterization of two alpha-synuclein strains. Nat Commun 4: 2575. https://doi.org/10.1038/ncomms3575
    [28] Sacino AN, Brooks M, Thomas MA, et al. (2014) Intramuscular injection of α-synuclein induces CNS α-synuclein pathology and a rapid-onset motor phenotype in transgenic mice. Proc Natl Acad Sci U S A 111: 10732-10737. https://doi.org/10.1073/pnas.1321785111
    [29] Mougenot AL, Nicot S, Bencsik A, et al. (2012) Prion-like acceleration of a synucleinopathy in a transgenic mouse model. Neurobiol Aging 33: 2225-2228. https://doi.org/10.1016/j.neurobiolaging.2011.06.022
    [30] Carlson GA, Prusiner SB (2021) How an infection of sheep revealed prion mechanisms in Alzheimer's disease and other neurodegenerative disorders. Int J Mol Sci 22: 4861. https://doi.org/10.3390/ijms22094861
    [31] Watts JC, Giles K, Oehler A, et al. (2013) Transmission of multiple system atrophy prions to transgenic mice. Proc Natl Acad Sci U S A 110: 19555-19560. https://doi.org/10.1073/pnas.1318268110
    [32] Braak H, Del Tredici K, Rüb U, et al. (2003) Staging of brain pathology related to sporadic Parkinson's disease. Neurobiol Aging 24: 197-211. https://doi.org/10.1016/s0197-4580(02)00065-9
    [33] Peelaerts W, Bousset L, der Perren AV, et al. (2015) α-Synuclein strains cause distinct synucleinopathies after local and systemic administration. Nature 522: 340-344. https://doi.org/10.1038/nature14547
    [34] Shahnawaz M, Mukherjee A, Pritzkow S, et al. (2020) Discriminating α-synuclein strains in Parkinson's disease and multiple system atrophy. Nature 578: 273-277. https://doi.org/10.1038/s41586-020-1984-7
    [35] Trotti LM (2010) REM sleep behaviour disorder in older individuals: Epidemiology, pathophysiology and management. Drugs Aging 27: 457-470. https://doi.org/10.2165/11536260-000000000-00000
    [36] Haba-Rubio J, Frauscher B, Marques-Vidal P, et al. (2018) Prevalence and determinants of rapid eye movement sleep behavior disorder in the general population. Sleep 41: zsx197. https://doi.org/10.1093/sleep/zsx197
    [37] Fernández-Arcos A, Iranzo A, Serradell M, et al. (2016) The clinical phenotype of idiopathic rapid eye movement sleep behavior disorder at presentation: A study in 203 consecutive patients. Sleep 39: 121-132. https://doi.org/10.5665/sleep.5332
    [38] Schenck CH, Bundlie SR, Ettinger MG, et al. (1986) Chronic behavioral disorders of human REM sleep: A new category of parasomnia. Sleep 9: 293-308. https://doi.org/10.1093/sleep/9.2.293
    [39] Cartwright RD (2014) Alcohol and NREM parasomnias: Evidence versus opinions in the international classification of sleep disorders, 3rd edition. J Clin Sleep Med 10: 1039-1040. Published 2014 Sep 15. https://doi.org/10.5664/jcsm.4050
    [40] Bassetti CL, Bargiotas P (2018) REM sleep behavior disorder. Front Neurol Neurosci 41: 104-116. https://doi.org/10.1159/000478914
    [41] Berry RB, Quan SF, Abreu AR, et al. (2020) The AASM manual for the scoring of sleep and associated events: Rules, terminology and technical specifications, Version 2.6.American Academy of Sleep Medicine.
    [42] Frauscher B, Iranzo A, Gaig C, et al. (2012) Normative EMG values during REM sleep for the diagnosis of REM sleep behavior disorder. Sleep 35: 835-847. https://doi.org/10.5665/sleep.1886
    [43] Ferri R, Rundo F, Manconi M, et al. (2010) Improved computation of the atonia index in normal controls and patients with REM sleep behavior disorder. Sleep Med 11: 947-949. https://doi.org/10.1016/j.sleep.2010.06.003
    [44] Frandsen R, Nikolic M, Zoetmulder M, et al. (2015) Analysis of automated quantification of motor activity in REM sleep behaviour disorder. J Sleep Res 24: 583-590. https://doi.org/10.1111/jsr.12304
    [45] Frauscher B, Gschliesser V, Brandauer E, et al. (2007) Video analysis of motor events in REM sleep behavior disorder. Mov Disord 22: 1464-1470. https://doi.org/10.1002/mds.21561
    [46] Manni R, Terzaghi M, Glorioso M (2009) Motor-behavioral episodes in REM sleep behavior disorder and phasic events during REM sleep. Sleep 32: 241-245. https://doi.org/10.1093/sleep/32.2.241
    [47] Sixel-Döring F, Schweitzer M, Mollenhauer B, et al. (2011) Intraindividual variability of REM sleep behavior disorder in Parkinson's disease: A comparative assessment using a new REM sleep behavior disorder severity scale (RBDSS) for clinical routine. J Clin Sleep Med 7: 75-80.
    [48] Waser M, Stefani A, Holzknecht E, et al. (2020) Automated 3D video analysis of lower limb movements during REM sleep: a new diagnostic tool for isolated REM sleep behavior disorder. Sleep 43: zsaa100. https://doi.org/10.1093/sleep/zsaa100
    [49] Scherfler C, Frauscher B, Schocke M, et al. (2011) White and gray matter abnormalities in idiopathic rapid eye movement sleep behavior disorder: A diffusion-tensor imaging and voxel-based morphometry study. Ann Neurol 69: 400-407. https://doi.org/10.1002/ana.22245
    [50] Ehrminger M, Latimier A, Pyatigorskaya N, et al. (2016) The coeruleus/subcoeruleus complex in idiopathic rapid eye movement sleep behaviour disorder. Brain 139: 1180-1188. https://doi.org/10.1093/brain/aww006
    [51] De Marzi R, Seppi K, Högl B, et al. (2016) Loss of dorsolateral nigral hyperintensity on 3.0 tesla susceptibility-weighted imaging in idiopathic rapid eye movement sleep behavior disorder. Ann Neurol 79: 1026-1030. https://doi.org/10.1002/ana.24646
    [52] Iranzo A, Lomeña F, Stockner H, et al. (2010) Decreased striatal dopamine transporter uptake and substantia nigra hyperechogenicity as risk markers of synucleinopathy in patients with idiopathic rapid-eye-movement sleep behaviour disorder: A prospective study. Lancet Neurol 9: 1070-1077. https://doi.org/10.1016/S1474-4422(10)70216-7
    [53] Iranzo A, Santamaría J, Valldeoriola F, et al. (2017) Dopamine transporter imaging deficit predicts early transition to synucleinopathy in idiopathic rapid eye movement sleep behavior disorder. Ann Neurol 82: 419-428. https://doi.org/10.1002/ana.25026
    [54] Aurora RN, Zak RS, Maganti RK, et al. (2010) Best practice guide for the treatment of REM sleep behavior disorder (RBD). J Clin Sleep Med 6: 85-95.
    [55] Devnani P, Fernandes R (2015) Management of REM sleep behavior disorder: An evidence based review. Ann Indian Acad Neurol 18: 1-5.
    [56] McGrane IR, Leung JG, St Louis EK, et al. (2015) Melatonin therapy for REM sleep behavior disorder: A critical review of evidence. Sleep Med 16: 19-26. https://doi.org/10.1016/j.sleep.2014.09.011
    [57] Arnaldi D, Antelmi E, St Louis EK, et al. (2017) Idiopathic REM sleep behavior disorder and neurodegenerative risk: To tell or not to tell to the patient? How to minimize the risk?. Sleep Med Rev 36: 82-95. https://doi.org/10.1016/j.smrv.2016.11.002
    [58] Roguski A, Rayment D, Whone AL, et al. (2020) A neurologist's guide to REM sleep behavior disorder. Front Neurol 11: 610. https://doi.org/10.3389/fneur.2020.00610
    [59] Knudsen K, Fedorova TD, Hansen AK, et al. (2018) In-vivo staging of pathology in REM sleep behaviour disorder: A multimodality imaging case-control study. Lancet Neurol 17: 618-628. https://doi.org/10.1016/S1474-4422(18)30162-5
    [60] Valencia Garcia S, Libourel PA, Lazarus M, et al. (2017) Genetic inactivation of glutamate neurons in the rat sublaterodorsal tegmental nucleus recapitulates REM sleep behaviour disorder. Brain 140: 414-428. https://doi.org/10.1093/brain/aww310
    [61] Luppi PH, Clément O, Sapin E, et al. (2011) The neuronal network responsible for paradoxical sleep and its dysfunctions causing narcolepsy and rapid eye movement (REM) behavior disorder. Sleep Med Rev 15: 153-163. https://doi.org/10.1016/j.smrv.2010.08.002
    [62] Fraigne JJ, Torontali ZA, Snow MB, et al. (2015) REM sleep at its core–circuits, neurotransmitters, and Pathophysiology. Front Neurol 6: 123. https://doi.org/10.3389/fneur.2015.00123
    [63] Arrigoni E, Chen MC, Fuller PM (2016) The anatomical, cellular and synaptic basis of motor atonia during rapid eye movement sleep. J Physiol 594: 5391-5414. https://doi.org/10.1113/JP271324
    [64] Blumberg MS, Plumeau AM (2016) A new view of “dream enactment” in REM sleep behavior disorder. Sleep Med Rev 30: 34-42. https://doi.org/10.1016/j.smrv.2015.12.002
    [65] Garcia-Rill E (2017) Bottom-up gamma and stages of waking. Med Hypotheses 104: 58-62. https://doi.org/10.1016/j.mehy.2017.05.023
    [66] Teman PT, Tippmann-Peikert M, Silber MH, et al. (2009) Idiopathic rapid-eye-movement sleep disorder: Associations with antidepressants, psychiatric diagnoses, and other factors, in relation to age of onset. Sleep Med 10: 60-65. https://doi.org/10.1016/j.sleep.2007.11.019
    [67] Lin FC, Liu CK, Hsu CY (2009) Rapid-eye-movement sleep behavior disorder secondary to acute aseptic limbic encephalitis. J Neurol 256: 1174-1176. https://doi.org/10.1007/s00415-009-5067-9
    [68] Zanigni S, Calandra-Buonaura G, Grimaldi D, et al. (2011) REM behaviour disorder and neurodegenerative diseases. Sleep Med 12: S54-S58. https://doi.org/10.1016/j.sleep.2011.10.012
    [69] Postuma RB, Iranzo A, Hu M, et al. (2019) Risk and predictors of dementia and parkinsonism in idiopathic REM sleep behaviour disorder: A multicentre study. Brain 142: 744-759. https://doi.org/10.1093/brain/awz030
    [70] Berg D, Postuma RB, Adler CH, et al. (2015) MDS research criteria for prodromal Parkinson's disease. Mov Disord 30: 1600-1611. https://doi.org/10.1002/mds.26431
    [71] Högl B, Stefani A, Videnovic A (2018) Idiopathic REM sleep behaviour disorder and neurodegeneration–an update. Nat Rev Neurol 14: 40-55. https://doi.org/10.1038/nrneurol.2017.157
    [72] Iranzo A, Santamaria J, Tolosa E (2009) The clinical and pathophysiological relevance of REM sleep behavior disorder in neurodegenerative diseases. Sleep Med Rev 13: 385-401. https://doi.org/10.1016/j.smrv.2008.11.003
    [73] Hoque R, Chesson AL (2010) Pharmacologically induced/exacerbated restless legs syndrome, periodic limb movements of sleep, and REM behavior disorder/REM sleep without atonia: literature review, qualitative scoring, and comparative analysis. J Clin Sleep Med 6: 79-83.
    [74] Winkelman JW, James L (2004) Serotonergic antidepressants are associated with REM sleep without atonia. Sleep 27: 317-321. https://doi.org/10.1093/sleep/27.2.317
    [75] Iranzo A, Santamaria J (1999) Bisoprolol-induced rapid eye movement sleep behavior disorder. Am J Med 107: 390-392. https://doi.org/10.1016/s0002-9343(99)00245-4
    [76] Morrison I, Frangulyan R, Riha RL, et al. (2011) Beta-blockers as a cause of violent rapid eye movement sleep behavior disorder: A poorly recognized but common cause of violent parasomnias. Am J Med 124: E11. https://doi.org/10.1016/j.amjmed.2010.04.023
    [77] Verma A, Anand V, Verma NP (2007) Sleep disorders in chronic traumatic brain injury. J Clin Sleep Med 3: 357-362.
    [78] Kimura K, Tachibana N, Kohyama J, et al. (2000) A discrete pontine ischemic lesion could cause REM sleep behavior disorder. Neurology 55: 894-895. https://doi.org/10.1212/wnl.55.6.894
    [79] Xi Z, Luning W (2009) REM sleep behavior disorder in a patient with pontine stroke. Sleep Med 10: 143-146. https://doi.org/10.1016/j.sleep.2007.12.002
    [80] Zambelis T, Paparrigopoulos T, Soldatos CR (2002) REM sleep behaviour disorder associated with a neurinoma of the left pontocerebellar angle. J Neurol Neurosurg Psychiatry 72: 821-822. https://doi.org/10.1136/jnnp.72.6.821
    [81] Jianhua C, Xiuqin L, Quancai C, et al. (2013) Rapid eye movement sleep behavior disorder in a patient with brainstem lymphoma. Internal Med 52: 617-621. https://doi.org/10.2169/internalmedicine.52.8786
    [82] Plazzi G, Montagna P (2002) Remitting REM sleep behavior disorder as the initial sign of multiple sclerosis. Sleep Med 3: 437-439. https://doi.org/10.1016/s1389-9457(02)00042-4
    [83] Tippmann-Peikert M, Boeve BF, et al. (2006) REM sleep behavior disorder initiated by acute brainstem multiple sclerosis. Neurology 66: 1277-1279. https://doi.org/10.1212/01.wnl.0000208518.72660.ff
    [84] Iranzo A, Graus F, Clover L, et al. (2006) Rapid eye movement sleep behavior disorder and potassium channel antibody–associated limbic encephalitis. Ann Neurol 59: 178-181. https://doi.org/10.1002/ana.20693
    [85] Ralls F, Cutchen L, Grigg-Damberger MM (2022) Recognizing new-onset sleep disorders in autoimmune encephalitis often prompt earlier diagnosis. J Clin Neurophysiol 39: 363-371. https://doi.org/10.1097/WNP.0000000000000820
    [86] Schenck CH, Mahowald MW (1992) Motor dyscontrol in narcolepsy: Rapid-eye-movement (REM) sleep without atonia and REM sleep behavior disorder. Ann Neurol 32: 3-10. https://doi.org/10.1002/ana.410320103
    [87] Nightingale S, Orgill JC, Ebrahim IO, et al. (2005) The association between narcolepsy and REM behavior disorder (RBD). Sleep Med 6: 253-258. https://doi.org/10.1016/j.sleep.2004.11.007
    [88] Gaig C, Graus F, Compta Y, et al. (2017) Clinical manifestations of the anti-IgLON5 disease. Neurology 88: 1736-1743. https://doi.org/10.1212/WNL.0000000000003887
    [89] Arnulf I, Merino-Andreu M, Bloch F, et al. (2005) REM sleep behavior disorder and REM sleep without atonia in patients with progressive supranuclear palsy. Sleep 28: 349-354.
    [90] De Cock VC, Lannuzel A, Verhaeghe S, et al. (2007) REM sleep behavior disorder in patients with guadeloupean parkinsonism, a tauopathy. Sleep 30: 1026-1032. https://doi.org/10.1093/sleep/30.8.1026
    [91] Lugaresi E, Provini F (2001) Agrypnia excitata: Clinical features and pathophysiological implications. Sleep Med Rev 5: 313-322. https://doi.org/10.1053/smrv.2001.0166
    [92] Friedman JH, Fernandez HH, Sudarsky LR (2003) REM behavior disorder and excessive daytime somnolence in Machado-Joseph disease (SCA-3). Mov Disord 18: 1520-1522. https://doi.org/10.1002/mds.10590
    [93] Arnulf I, Nielsen J, Lohmann E, et al. (2008) Rapid eye movement sleep disturbances in Huntington disease. Arch Neurol 65: 482-488. https://doi.org/10.1001/archneur.65.4.482
    [94] Mufti K, Yu E, Rudakou U, et al. (2021) Novel associations of BST1 and LAMP3 With REM sleep behavior disorder. Neurology 96: e1402-e1412. https://doi.org/10.1212/WNL.0000000000011464
    [95] Krohn L, Heilbron K, Blauwendraat C, et al. (2022) Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects. Nat Commun 13: 7496. https://doi.org/10.1038/s41467-022-34732-5
    [96] Sosero YL, Yu E, Estiar MA, et al. (2022) Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder. J Parkinson's Dis 12: 333-340. https://doi.org/10.3233/JPD-212867
    [97] Bencheikh BOA, Ruskey JA, Arnulf I, et al. (2018) LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism Relat Disord 52: 98-101. https://doi.org/10.1016/j.parkreldis.2018.03.019
    [98] Somerville EN, Krohn L, Yu E, et al. NPC1 variants are not associated with Parkinson's Disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts (2022). https://doi.org/10.1101/2022.11.08.22281508
    [99] Comella CL, Nardine TM, Diederich NJ, et al. (1998) Sleep-related violence, injury, and REM sleep behavior disorder in Parkinson's disease. Neurology 51: 526-529. https://doi.org/10.1212/wnl.51.2.526
    [100] Gagnon JF, Bédard MA, Fantini ML, et al. (2002) REM sleep behavior disorder and REM sleep without atonia in Parkinson's disease. Neurology 59: 585-589. https://doi.org/10.1212/wnl.59.4.585
    [101] Boeve BF, Silber MH, Ferman TJ (2004) REM sleep behavior disorder in Parkinson's disease and dementia with Lewy bodies. J Geriatr Psych Neur 17: 146-157. https://doi.org/10.1177/0891988704267465
    [102] Plazzi G, Corsini R, Provini F, et al. (1997) REM sleep behavior disorders in multiple system atrophy. Neurology 48: 1094-1097. https://doi.org/10.1212/wnl.48.4.1094
    [103] Tachibana N, Kimura K, Kitajima K, et al. (1997) REM sleep motor dysfunction in multiple system atrophy: with special emphasis on sleep talk as its early clinical manifestation. J Neurol Neurosur Ps 63: 678-681. https://doi.org/10.1136/jnnp.63.5.678
    [104] Schenck CH, Boeve BF, Mahowald MW (2013) Delayed emergence of a parkinsonian disorder or dementia in 81% of older men initially diagnosed with idiopathic rapid eye movement sleep behavior disorder: A 16-year update on a previously reported series. Sleep Med 14: 744-748. https://doi.org/10.1016/j.sleep.2012.10.009
    [105] Iranzo A, Fernández-Arcos A, Tolosa E, et al. (2014) Neurodegenerative disorder risk in idiopathic REM sleep behavior disorder: Study in 174 patients. PLoS One 9: e89741. https://doi.org/10.1371/journal.pone.0089741
    [106] Adler CH, Beach TG, Zhang N, et al. (2019) Unified staging system for Lewy body disorders: Clinicopathologic correlations and comparison to Braak staging. J Neuropath Exp Neur 78: 891-899. https://doi.org/10.1093/jnen/nlz080
    [107] Boeve BF, Silber MH, Ferman TJ, et al. (2013) Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder. Sleep Med 14: 754-762. https://doi.org/10.1016/j.sleep.2012.10.015
    [108] Uchiyama M, Isse K, Tanaka K, et al. (1995) Incidental Lewy body disease in a patient with REM sleep behavior disorder. Neurology 45: 709-712. https://doi.org/10.1212/wnl.45.4.709
    [109] Boeve BF, Dickson DW, Olson EJ, et al. (2007) Insights into REM sleep behavior disorder pathophysiology in brainstem-predominant Lewy body disease. Sleep Med 8: 60-64. https://doi.org/10.1016/j.sleep.2006.08.017
    [110] Boeve BF, Silber MH, Saper CB, et al. (2007) Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease. Brain 130: 2770-2788. https://doi.org/10.1093/brain/awm056
    [111] Sixel-Döring F, Zimmermann J, Wegener A, et al. (2016) The evolution of REM sleep behavior disorder in early Parkinson Disease. Sleep 39: 1737-1742. https://doi.org/10.5665/sleep.6102
    [112] Liu Y, Zhang J, Chau SWH, et al. (2022) Evolution of prodromal REM sleep behavior disorder to neurodegeneration: A retrospective longitudinal case-control study. Neurology 99: e627-e637. https://doi.org/10.1212/WNL.0000000000200707
    [113] McCarter SJ, Sandness DJ, McCarter AR, et al. (2019) REM sleep muscle activity in idiopathic REM sleep behavior disorder predicts phenoconversion. Neurology 93: e1171-e1179. https://doi.org/10.1212/WNL.0000000000008127
    [114] Nepozitek J, Dostalova S, Dusek P, et al. (2019) Simultaneous tonic and phasic REM sleep without atonia best predicts early phenoconversion to neurodegenerative disease in idiopathic REM sleep behavior disorder. Sleep 42: zsz132. https://doi.org/10.1093/sleep/zsz132
    [115] Iranzo A, Borrego S, Vilaseca I, et al. (2018) α-Synuclein aggregates in labial salivary glands of idiopathic rapid eye movement sleep behavior disorder. Sleep 41: zsy101. https://doi.org/10.1093/sleep/zsy101
    [116] Donadio V, Doppler K, Incensi A, et al. (2019) Abnormal α-synuclein deposits in skin nerves: Intra- and inter-laboratory reproducibility. Eur J Neurol 26: 1245-1251. https://doi.org/10.1111/ene.13939
    [117] Doppler K, Jentschke HM, Schulmeyer L, et al. (2017) Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson's disease. Acta Neuropathol 133: 535-545. https://doi.org/10.1007/s00401-017-1684-z
    [118] Antelmi E, Pizza F, Donadio V, et al. (2019) Biomarkers for REM sleep behavior disorder in idiopathic and narcoleptic patients. Ann Clin Transl Neur 6: 1872-1876. https://doi.org/10.1002/acn3.50833
    [119] Wilham JM, Orrú CD, Bessen RA, et al. (2010) Rapid end-point quantitation of prion seeding activity with sensitivity comparable to bioassays. PLoS Pathog 6: e1001217. https://doi.org/10.1371/journal.ppat.1001217
    [120] Scialò C, Tran TH, Salzano G, et al. (2020) TDP-43 real-time quaking induced conversion reaction optimization and detection of seeding activity in CSF of amyotrophic lateral sclerosis and frontotemporal dementia patients. Brain Commun 2: fcaa142. https://doi.org/10.1093/braincomms/fcaa142
    [121] Saijo E, Ghetti B, Zanusso G, et al. (2017) Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid. Acta Neuropathol 133: 751-765. https://doi.org/10.1007/s00401-017-1692-z
    [122] Tennant JM, Henderson DM, Wisniewski TM, et al. (2020) RT-QuIC detection of tauopathies using full-length tau substrates. Prion 14: 249-256. https://doi.org/10.1080/19336896.2020.1832946
    [123] Fairfoul G, McGuire LI, Pal S, et al. (2016) Alpha-synuclein RT-QuIC in the CSF of patients with alpha-synucleinopathies. Ann Clin Tran Neur 3: 812-818. https://doi.org/10.1002/acn3.338
    [124] Candelise N, Schmitz M, Llorens F, et al. (2019) Seeding variability of different alpha synuclein strains in synucleinopathies. Ann Neurol 85: 691-703. https://doi.org/10.1002/ana.25446
    [125] Perra D, Bongianni M, Novi G, et al. (2021) Alpha–synuclein seeds in olfactory mucosa and cerebrospinal fluid of patients with dementia with Lewy bodies. Brain Commun 3: fcab045. https://doi.org/10.1093/braincomms/fcab045
    [126] Stefani A, Iranzo A, Holzknecht E, et al. (2021) Alpha-synuclein seeds in olfactory mucosa of patients with isolated REM sleep behaviour disorder. Brain 144: 1118-1126. https://doi.org/10.1093/brain/awab005
    [127] Rossi M, Candelise N, Baiardi S, et al. (2020) Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies. Acta Neuropathol 140: 49-62. https://doi.org/10.1007/s00401-020-02160-8
    [128] Iranzo A, Fairfoul G, Ayudhaya ACN, et al. (2021) Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behaviour disorder: A longitudinal observational study. Lancet Neurol 20: 203-212. https://doi.org/10.1016/S1474-4422(20)30449-X
    [129] Poggiolini I, Gupta V, Lawton M, et al. (2022) Diagnostic value of cerebrospinal fluid alpha–synuclein seed quantification in synucleinopathies. Brain 145: 584-595. https://doi.org/10.1093/brain/awab431
    [130] Postuma RB, Berg D, Stern M, et al. (2015) MDS clinical diagnostic criteria for Parkinson's disease. Mov Disord 30: 1591-1601. https://doi.org/10.1002/mds.26424
    [131] McKeith IG, Boeve BF, Dickson DW, et al. (2017) Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium. Neurology 89: 88-100. https://doi.org/10.1212/WNL.0000000000004058
    [132] Gilman S, Wenning GK, Low PA, et al. (2008) Second consensus statement on the diagnosis of multiple system atrophy. Neurology 71: 670-676. https://doi.org/10.1212/01.wnl.0000324625.00404.15
    [133] Howell MJ, Schenck CH (2015) Rapid eye movement sleep behavior disorder and neurodegenerative disease. JAMA Neurol 72: 707-712.
    [134] Schenck CH, Garcia-Rill E, Skinner RD, et al. (1996) A case of REM sleep behavior disorder with autopsy-confirmed Alzheimer's disease: Postmortem brain stem histochemical analyses. Biol Psychiat 40: 422-425. https://doi.org/10.1016/0006-3223(96)00070-4
    [135] Boot BP, Boeve BF, Roberts RO, et al. (2012) Probable rapid eye movement sleep behavior disorder increases risk for mild cognitive impairment and Parkinson disease: A population-based study. Ann Neurol 71: 49-56. https://doi.org/10.1002/ana.22655
    [136] Enriquez-Marulanda A, Quintana-Peña V, Takeuchi Y, et al. (2018) Case report: Rapid eye movement sleep behavior disorder as the first manifestation of multiple sclerosis: A case report and literature review. Int J MS Care 20: 180-184. https://doi.org/10.7224/1537-2073.2017-001
    [137] Gómez-Choco MJ, Iranzo A, Blanco Y, et al. (2007) Prevalence of restless legs syndrome and REM sleep behavior disorder in multiple sclerosis. Mult Scler 13: 805-808. https://doi.org/10.1177/1352458506074644
    [138] McCarter SJ, Tippmann-Peikert M, Sandness DJ, et al. (2015) Neuroimaging-evident lesional pathology associated with REM sleep behavior disorder. Sleep Med 16: 1502-1510. https://doi.org/10.1016/j.sleep.2015.07.018
    [139] Provini F, Vetrugno R, Pastorelli F, et al. (2004) Status dissociatus after surgery for tegmental ponto-mesencephalic cavernoma: A state-dependent disorder of motor control during sleep. Movement Disord 19: 719-723. https://doi.org/10.1002/mds.20027
    [140] Dauvilliers Y, Schenck CH, Postuma RB, et al. (2018) REM sleep behaviour disorder. Nat Rev Dis Primers 4: 19. https://doi.org/10.1038/s41572-018-0016-5
    [141] Sabater L, Gaig C, Gelpi E, et al. (2014) A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: A case series, characterisation of the antigen, and post-mortem study. Lancet Neurol 13: 575-586. https://doi.org/10.1016/S1474-4422(14)70051-1
    [142] Perrone L, Valente M (2021) The emerging role of metabolism in brain-heart axis: New challenge for the therapy and prevention of Alzheimer disease. May thioredoxin interacting protein (TXNIP) play a role?. Biomolecules 11: 1652. https://doi.org/10.3390/biom11111652
    [143] Sampson TR, Debelius JW, Thron T, et al. (2016) Gut microbiota regulate motor deficits and neuroinflammation in a model of Parkinson's disease. Cell 167: 1469-1480. https://doi.org/10.1016/j.cell.2016.11.018
    [144] Olson CA, Vuong HE, Yano JM, et al. (2018) The gut microbiota mediates the anti-seizure effects of the ketogenic diet. Cell 173: 1728-1741. https://doi.org/10.1016/j.cell.2018.04.027
    [145] Han JW, Ahn YD, Kim WS, et al. (2018) Psychiatric manifestation in patients with Parkinson's disease. J Korean Med Sci 33: e300. https://doi.org/10.3346/jkms.2018.33.e300
    [146] Dujardin K, Sgambato V (2020) Neuropsychiatric disorders in Parkinson's Disease: What do we know about the role of dopaminergic and non-dopaminergic systems?. Front Neurosci 14: 25. https://doi.org/10.3389/fnins.2020.00025
    [147] Schapira AHV, Chaudhuri KR, Jenner P (2017) Non-motor features of Parkinson disease. Nat Rev Neurosci 18: 435-450. https://doi.org/10.1038/nrn.2017.62
    [148] Kelly LP, Carvey PM, Keshavarzian A, et al. (2014) Progression of intestinal permeability changes and alpha-synuclein expression in a mouse model of Parkinson's disease. Movement Disord 29: 999-1009. https://doi.org/10.1002/mds.25736
    [149] Riedel O, Klotsche J, Spottke A, et al. (2010) Frequency of dementia, depression, and other neuropsychiatric symptoms in 1,449 outpatients with Parkinson's disease. J Neurol 257: 1073-1082. https://doi.org/10.1007/s00415-010-5465-z
    [150] Wong JMW, Esfahani A, Singh N, et al. (2012) Gut microbiota, diet, and heart disease. J AOAC Int 95: 24-30. https://doi.org/10.5740/jaoacint.sge_wong
    [151] Singh N, Gurav A, Sivaprakasam S, et al. (2014) Activation of Gpr109a, receptor for niacin and the commensal metabolite butyrate, suppresses colonic inflammation and carcinogenesis. Immunity 40: 128-139. https://doi.org/10.1016/j.immuni.2013.12.007
    [152] Mulak A, Bonaz B (2015) Brain-gut-microbiota axis in Parkinson's disease. World J Gastroenterol 21: 10609-10620. https://doi.org/10.3748/wjg.v21.i37.10609
    [153] Vriend C, Raijmakers P, Veltman DJ, et al. (2014) Depressive symptoms in Parkinson's disease are related to reduced [123I]FP-CIT binding in the caudate nucleus. J Neurol Neurosurg Ps 85: 159-164. https://doi.org/10.1136/jnnp-2012-304811
    [154] Remy P, Doder M, Lees A, et al. (2005) Depression in Parkinson's disease: loss of dopamine and noradrenaline innervation in the limbic system. Brain 128: 1314-1322. https://doi.org/10.1093/brain/awh445
    [155] Boileau I, Warsh JJ, Guttman M, et al. (2008) Elevated serotonin transporter binding in depressed patients with Parkinson's disease: A preliminary PET study with [11C]DASB. Mov Disord 23: 1776-1780. https://doi.org/10.1002/mds.22212
    [156] Okun MS, Watts RL (2002) Depression associated with Parkinson's disease: Clinical features and treatment. Neurology 58: S63-S70. https://doi.org/10.1212/wnl.58.suppl_1.s63
    [157] Ascherio A, Schwarzschild MA (2016) The epidemiology of Parkinson's disease: Risk factors and prevention. Lancet Neurol 15: 1257-1272. https://doi.org/10.1016/S1474-4422(16)30230-7
    [158] Perez-Pardo P, Dodiya HB, Engen PA, et al. (2019) Role of TLR4 in the gut-brain axis in Parkinson's disease: A translational study from men to mice. Gut 68: 829-843. https://doi.org/10.1136/gutjnl-2018-316844
    [159] Perez-Pardo P, Kliest T, Dodiya HB, et al. (2017) The gut-brain axis in Parkinson's disease: Possibilities for food-based therapies. Eur J Pharmacol 817: 86-95. https://doi.org/10.1016/j.ejphar.2017.05.042
    [160] Olanow CW, Wakeman DR, Kordower JH (2014) Peripheral alpha-synuclein and Parkinson's disease. Mov Disord 29: 963-966. https://doi.org/10.1002/mds.25966
    [161] Forsyth CB, Shannon KM, Kordower JH, et al. (2011) Increased intestinal permeability correlates with sigmoid mucosa alpha-synuclein staining and endotoxin exposure markers in early Parkinson's disease. PLoS One 6: e28032. https://doi.org/10.1371/journal.pone.0028032
    [162] Di Lorenzo C, Ballerini G, Barbanti P, et al. (2021) Applications of ketogenic diets in patients with headache: Clinical recommendations. Nutrients 13: 2307. https://doi.org/10.3390/nu13072307
    [163] Houser MC, Tansey MG (2017) The gut-brain axis: Is intestinal inflammation a silent driver of Parkinson's disease pathogenesis?. NPJ Parkinson's Dis 3: 3. https://doi.org/10.1038/s41531-016-0002-0
    [164] Braniste V, Al-Asmakh M, Kowal C, et al. (2014) The gut microbiota influences blood-brain barrier permeability in mice. Sci Transl Med 6: 263ra158. https://doi.org/10.1126/scitranslmed.3009759
    [165] Quigley EMM (2017) Microbiota-brain-gut axis and neurodegenerative diseases. Curr Neurol Neurosci Rep 17: 94. https://doi.org/10.1007/s11910-017-0802-6
    [166] Turnbaugh PJ, Ridaura VK, Faith JJ, et al. (2009) The effect of diet on the human gut microbiome: A etagenomic analysis in humanized gnotobiotic mice. Sci Transl Med 1: 6ra14. https://doi.org/10.1126/scitranslmed.3000322
    [167] Heinzel S, Aho VTE, Suenkel U, et al. (2021) Gut microbiome signatures of risk and prodromal markers of Parkinson disease. Ann Neurol 90: E1-E12. https://doi.org/10.1002/ana.26128
    [168] Heintz-Buschart A, Pandey U, Wicke T, et al. (2018) The nasal and gut microbiome in Parkinson's disease and idiopathic rapid eye movement sleep behavior disorder. Movement Disord 33: 88-98. https://doi.org/10.1002/mds.27105
    [169] Bedarf JR, Hildebrand F, Coelho LP, et al. (2017) Functional implications of microbial and viral gut metagenome changes in early stage L-DOPA-naïve Parkinson's disease patients. Genome Med 9: 39.
    [170] Huang B, Chau SWH, Liu Y, et al. (2023) Gut microbiome dysbiosis across early Parkinson's disease, REM sleep behavior disorder and their first-degree relatives. Nat Commun 14: 2501. https://doi.org/10.1038/s41467-023-38248-4
  • Reader Comments
  • © 2023 the Author(s), licensee AIMS Press. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0)
通讯作者: 陈斌, bchen63@163.com
  • 1. 

    沈阳化工大学材料科学与工程学院 沈阳 110142

  1. 本站搜索
  2. 百度学术搜索
  3. 万方数据库搜索
  4. CNKI搜索

Metrics

Article views(1001) PDF downloads(68) Cited by(0)

Article outline

Figures and Tables

Figures(1)  /  Tables(2)

/

DownLoad:  Full-Size Img  PowerPoint
Return
Return

Catalog