发作性睡病1型患者神经心理学、睡眠结构及<i>HLA-DQB1</i>基因型分布特征

doi:10.3969/j.issn.1672-6731.2023.08.012

摘要/Abstract

摘要：

目的: 探讨发作性睡病1型（NT1）患者神经心理学、睡眠结构以及HLA-DQB1基因型特征。方法: 共纳入2018年8月至2022年11月天津医科大学总医院收治的35例NT1患者，均进行神经心理学测验、夜间多导睡眠图监测、多次睡眠潜伏期试验、发作性睡病评价和HLA-DQB1基因检测。结果: 神经心理学测验，NT1患者蒙特利尔认知评价量表评分（t=3.159，P=0.004）、霍普金斯词语学习测验修订版第1次（t=3.028，P=0.004）和第2次（t=2.054，P=0.044）即刻回忆正确个数低于对照者，连线测验-B完成时间（t=-2.126，P=0.019）、汉密尔顿焦虑量表评分（Z=-5.109，P=0.000）、汉密尔顿抑郁量表 17项评分（Z=-3.204，P=0.001）、Epworth嗜睡量表评分（t=-13.609，P=0.000）、匹兹堡睡眠质量指数评分（Z=-3.004，P=0.003）高于对照者。多导睡眠图监测，NT1患者总记录时间（Z=-4.491，P=0.000）、非快速眼动睡眠期（NREM）3期占比（Z=-2.647，P=0.008）、快速眼动睡眠期占比（t=2.908，P=0.005）、睡眠周期性肢体运动指数（Z=-3.501，P=0.000）高于对照者，睡眠效率（t=-2.489，P=0.016）、睡眠潜伏期（Z=-4.112，P=0.000）、快速眼动睡眠潜伏期（Z=-4.318，P=0.000）、NREM 2期占比（t=-5.224，P=0.000）低于对照者。NT1患者临床表现为日间过度思睡占97.14%（34/35）、猝倒发作占97.14%（34/35）、其他夜间睡眠紊乱占88.57%（31/35）、入睡前幻觉占82.86%（29/35）、睡眠瘫痪占68.57%（24/35）；34例（97.14%）携带等位基因HLA-DQB1*0602。结论: NT1患者存在认知功能减退、情绪异常和睡眠结构紊乱，且HLA-DQB1*0602携带率较高。

关键词: 发作性睡病, 神经心理学测验, 多道睡眠描记术, HLA-DQ抗原

Abstract:

Objective: To analyse the neuropsychological characteristics, sleep structure and HLA-DQB1 gene distribution of narcolepsy type 1 (NT1) patients. Methods: A total of 35 patients with NT1 admitted to Tianjin Medical University General Hospital, from August 2018 to November 2022 were included, all of whom underwent neuropsychological tests, noctural polysomnography (nPSG) monitoring, Multiple Sleep Latency Test (MSLT), narcolepsy evaluation and HLA-DQB1 gene detection. Results: Neuropsychological tests showed the scores of Montreal Cognitive Assessment (MoCA; t=3.159, P=0.004) and the correct number of immediate recall of the first (t=3.028, P=0.004) and the second (t=2.054, P=0.044) of Hopkins Verbal Learning Test-Revised (HVLT-R) were lower of the NT1 group than those of the control group. Trail Making Test (TMT)-B completion time (t=-2.126, P=0.019), Hamilton Anxiety Scale (HAMA) score (Z=-5.109, P=0.000), Hamilton Depression Scale-17 (HAMD-17) score (Z=-3.204, P=0.001), Epworth Sleepiness Scale (ESS) socre (t=-13.609, P=0.000) and Pittsburgh Sleep Quality Index (PSQI) score (Z=-3.004, P=0.003) were higher of the NT1 group than those of the control group. nPSG showed the total recording time (Z=-4.491, P=0.000), the proportion of non-rapid eye movement (NREM) 3 (Z=-2.647, P=0.008), the proportion of rapid eye movement (REM; t=2.908, P=0.005) and periodic limb movements of sleep index (PLMSI; Z=-3.501, P=0.000) were higher of the NT1 group than those of the control group. Sleep efficiency (t=-2.489, P=0.016), sleep latency (Z=-4.112, P=0.000), REM sleep latency (Z=-4.318, P=0.000) and the proportion of NREM2 (t=-5.224, P=0.000) were lower of the NT1 group than those of the control group. The clinical features of NT1 patients were excessive daytime sleepiness (97.14%, 34/35), cataplexy (97.14%, 34/35), other sleep disturbances (88.57%, 31/35), sleep hallucination (82.86%, 29/35), and sleep paralysis (68.57%, 24/35). And 34 cases (97.14%) carried the allele HLA-DQB1*0602. Conclusions: Patients with NT1 have cognitive decline, mood change and sleep structure disorder, and the carrying rate of HLA-DQB1*0602 is high.

Key words: Narcolepsy, Neuropsychological tests, Polysomnography, HLA-DQ antigens

黄雅琴, 徐琳, 艾竹, 王林林, 薛蓉. 发作性睡病1型患者神经心理学、睡眠结构及HLA-DQB1基因型分布特征[J]. 中国现代神经疾病杂志, 2023, 23(8): 730-737.

Ya-qin HUANG, Lin XU, Zhu AI, Lin-lin WANG, Rong XUE. Characteristics of neuropsychological, sleep structure and distribution of HLA-DQB1 genotype of narcolepsy type 1[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2023, 23(8): 730-737.

https://journal11.magtechjournal.com/cjcnn/CN/Y2023/V23/I8/730

图/表 3

参考文献 54

1	Bassetti CLA , Adamantidis A , Burdakov D , Han F , Gay S , Kallweit U , Khatami R , Koning F , Kornum BR , Lammers GJ , Liblau RS , Luppi PH , Mayer G , Pollmächer T , Sakurai T , Sallusto F , Scammell TE , Tafti M , Dauvilliers Y . Narcolepsy: clinical spectrum, aetiopathophysiology, diagnosis and treatment. Nat Rev Neurol, 2019, 15: 519- 539.
2	Mahoney CE , Cogswell A , Koralnik IJ , Scammell TE . The neurobiological basis of narcolepsy. Nat Rev Neurosci, 2019, 20: 83- 93. doi: 10.1038/s41583-018-0097-x
3	Drissi NM , Warntjes M , Wessén A , Szakacs A , Darin N , Hallböök T , Landtblom AM , Gauffin H , Engström M . Structural anomaly in the reticular formation in narcolepsy type 1, suggesting lower levels of neuromelanin. Neuroimage Clin, 2019, 23: 101875. doi: 10.1016/j.nicl.2019.101875
4	Ponz A , Khatami R , Poryazova R , Werth E , Boesiger P , Bassetti CL , Schwartz S . Abnormal activity in reward brain circuits in human narcolepsy with cataplexy. Ann Neurol, 2010, 67: 190- 200. doi: 10.1002/ana.21825
5	Filardi M , D'Anselmo A , Agnoli S , Rubaltelli E , Mastria S , Mangiaruga A , Franceschini C , Pizza F , Corazza GE , Plazzi G . Cognitive dysfunction in central disorders of hypersomnolence: a systematic review. Sleep Med Rev, 2021, 59: 101510. doi: 10.1016/j.smrv.2021.101510
6	Lane JM , Qian J , Mignot E , Redline S , Scheer FAJL , Saxena R . Genetics of circadian rhythms and sleep in human health and disease. Nat Rev Genet, 2023, 24: 4- 20.
7	Yamasaki M , Miyagawa T , Toyoda H , Khor SS , Liu X , Kuwabara H , Kano Y , Shimada T , Sugiyama T , Nishida H , Sugaya N , Tochigi M , Otowa T , Okazaki Y , Kaiya H , Kawamura Y , Miyashita A , Kuwano R , Kasai K , Tanii H , Sasaki T , Honda Y , Honda M , Tokunaga K . Evaluation of polygenic risks for narcolepsy and essential hypersomnia. J Hum Genet, 2016, 61: 873- 878. doi: 10.1038/jhg.2016.65
8	American Academy of Sleep Medicine . International Classification of Sleep Disorders (ICSD-3). 3rd ed Darien: AASM, 2014: 46- 56.
9	Aiello EN , Pasotti F , Appollonio I , Bolognini N . Trajectories of MMSE and MoCA scores across the healthy adult lifespan in the Italian population. Aging Clin Exp Res, 2022, 34: 2417- 2420. doi: 10.1007/s40520-022-02174-0
10	Haddad C , Salameh P , Sacre H , Clément JP , Calvet B . The use of the Montreal Cognitive Assessment (MoCA) screening tool to evaluate cognitive deficits in Lebanese in-patients with schizophrenia. Asian J Psychiatr, 2022, 70: 103029. doi: 10.1016/j.ajp.2022.103029
11	Llinàs-Reglà J , Vilalta-Franch J , López-Pousa S , Calvó-Perxas L , Torrents Rodas D , Garre-Olmo J . The Trail Making Test. Assessment, 2017, 24: 183- 196. doi: 10.1177/1073191115602552
12	Sáez-Atxukarro O , Del Pino R , Peña J , Schretlen DJ , Ibarretxe-Bilbao N , Ojeda N . Hopkins Verbal Learning Test-revised: normalization and standardization for Spanish population. Rev Neurol, 2021, 72: 35- 42.
13	Thompson E . Hamilton Rating Scale for Anxiety (HAM-A). Occup Med (Lond), 2015, 65: 601. doi: 10.1093/occmed/kqv054
14	Yusuf M , Abera M , Getnet M , Dawud B . Psychometric properties of Hamilton Depression Rating Scale among people with epilepsy in Jimma University Medical Center, Neurology Clinic, Southwest Ethiopia, 2020:cross-sectional study. BMJ Open, 2023, 13: e070835. doi: 10.1136/bmjopen-2022-070835
15	Wang L , Fang X , Xu C , Pan N , Wang Y , Xue T , Zhang M , Cao J , Zhang J . Epworth sleepiness scale is associated with hypothyroidism in male patients with obstructive sleep apnea. Front Endocrinol (Lausanne), 2022, 13: 1010646. doi: 10.3389/fendo.2022.1010646
16	Zitser J , Allen IE , Falgàs N , Le MM , Neylan TC , Kramer JH , Walsh CM . Pittsburgh Sleep Quality Index (PSQI) responses are modulated by total sleep time and wake after sleep onset in healthy older adults. PLoS One, 2022, 17: e0270095. doi: 10.1371/journal.pone.0270095
17	Berry RB , Budhiraja R , Gottlieb DJ , Gozal D , Iber C , Kapur VK , Marcus CL , Mehra R , Parthasarathy S , Quan SF , Redline S , Strohl KP , Davidson Ward SL , Tangredi MM , American Academy of Sleep Medicine . Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine. J Clin Sleep Med, 2012, 8: 597- 619. doi: 10.5664/jcsm.2172
18	Dauvilliers Y , Barateau L , Lopez R , Rassu AL , Chenini S , Beziat S , Jaussent I . Narcolepsy Severity Scale: a reliable tool assessing symptom severity and consequences. Sleep, 2020, 43: zsaa009. doi: 10.1093/sleep/zsaa009
19	Hansen BH , Andresen HN , Gjesvik J , Thorsby PM , Naerland T , Knudsen-Heier S . Associations between psychiatric comorbid disorders and executive dysfunctions in hypocretin-1 deficient pediatric narcolepsy type1. Sleep Med, 2023, 109: 149- 157. doi: 10.1016/j.sleep.2023.06.021
20	Wang X , Xiao F , Wang Y , Deng X , Chen Z , Dong X , Wang W , Li C , Xu Z , Wu H , Yu H , Su C , Wang Z , Tang X , Lv Y , Li Y , Sun S , Huang J , Hao L , Wei X , Deng L , Huang YS , Zhang J , Wing YK , Zhang J , Mignot E , Han F , Yu H . Changed epidemiology of narcolepsy before, during, and after the 2009 H1N1 pandemic: a nationwide narcolepsy surveillance network study in mainland China, 1990-2017. Sleep, 2023, 46: zsac325. doi: 10.1093/sleep/zsac325
21	Han F , Lin L , Li J , Aran A , Dong SX , An P , Zhao L , Li M , Li QY , Yan H , Wang JS , Gao HY , Li M , Gao ZC , Strohl KP , Mignot E . Presentations of primary hypersomnia in Chinese children. Sleep, 2011, 34: 627- 632. doi: 10.1093/sleep/34.5.627
22	van Holst RJ , van der Cruijsen L , van Mierlo P , Lammers GJ , Cools R , Overeem S , Aarts E . Aberrant food choices after satiation in human orexin-deficient narcolepsy type 1. Sleep, 2016, 39: 1951- 1959. doi: 10.5665/sleep.6222
23	Ramanathan L , Siegel JM . Gender differences between hypocretin/orexin knockout and wild type mice: age, body weight, body composition, metabolic markers, leptin and insulin resistance. J Neurochem, 2014, 131: 615- 624. doi: 10.1111/jnc.12840
24	Wang Z , Wu H , Stone WS , Zhuang J , Qiu L , Xu X , Wang Y , Zhao Z , Han F , Zhao Z . Body weight and basal metabolic rate in childhood narcolepsy: a longitudinal study. Sleep Med, 2016, 25: 139- 144. doi: 10.1016/j.sleep.2016.06.019
25	Hanin C , Arnulf I , Maranci JB , Lecendreux M , Levinson DF , Cohen D , Laurent-Levinson C . Narcolepsy and psychosis: a systematic review. Acta Psychiatr Scand, 2021, 144: 28- 41. doi: 10.1111/acps.13300
26	Khatami R , Luca G , Baumann CR , Bassetti CL , Bruni O , Canellas F , Dauvilliers Y , Del Rio-Villegas R , Feketeova E , Ferri R , Geisler P , Högl B , Jennum P , Kornum BR , Lecendreux M , Martins-da-Silva A , Mathis J , Mayer G , Paiva T , Partinen M , Peraita-Adrados R , Plazzi G , Santamaria J , Sonka K , Riha R , Tafti M , Wierzbicka A , Young P , Lammers GJ , Overeem S , European Narcolepsy Network . The European Narcolepsy Network (EU-NN) database. J Sleep Res, 2016, 25: 356- 364. doi: 10.1111/jsr.12374
27	Overeem S , van Nues SJ , van der Zande WL , Donjacour CE , van Mierlo P , Lammers GJ . The clinical features of cataplexy: a questionnaire study in narcolepsy patients with and without hypocretin-1 deficiency. Sleep Med, 2011, 12: 12- 18. doi: 10.1016/j.sleep.2010.05.010
28	Sardar H , Goldstein-Piekarski AN , Giardino WJ . Amygdala neurocircuitry at the interface between emotional regulation and narcolepsy with cataplexy. Front Neurosci, 2023, 17: 1152594. doi: 10.3389/fnins.2023.1152594
29	Luca G , Haba-Rubio J , Dauvilliers Y , Lammers GJ , Overeem S , Donjacour CE , Mayer G , Javidi S , Iranzo A , Santamaria J , Peraita-Adrados R , Hor H , Kutalik Z , Plazzi G , Poli F , Pizza F , Arnulf I , Lecendreux M , Bassetti C , Mathis J , Heinzer R , Jennum P , Knudsen S , Geisler P , Wierzbicka A , Feketeova E , Pfister C , Khatami R , Baumann C , Tafti M; European Narcolepsy Network . Clinical, polysomnographic and genome-wide association analyses of narcolepsy with cataplexy: a European Narcolepsy Network study. J Sleep Res, 2013, 22: 482- 495. doi: 10.1111/jsr.12044
30	Sturzenegger C , Bassetti CL . The clinical spectrum of narcolepsy with cataplexy: a reappraisal. J Sleep Res, 2004, 13: 395- 406. doi: 10.1111/j.1365-2869.2004.00422.x
31	Del Sette P , Veneruso M , Cordani R , Lecce S , Varallo G , Franceschini C , Venturino C , Pizza F , Plazzi G , Nobili L . Narcolepsy and emotions: is there a place for a theory of mind approach?. Sleep Med, 2023, 102: 84- 89. doi: 10.1016/j.sleep.2022.12.013
32	Mombelli S , Ricordeau F , Gillard L , Lecca R , Vidal T , Pereira B , Beudin P , Vitello N , Bastuji H , Peter-Derex L , Fantini ML . Psychobehavioural profile in narcolepsy type 1 with and without REM sleep behaviour disorder. J Sleep Res, 2023, 24: e13925.
33	Hansen BH , Andresen HN , Gjesvik J , Thorsby PM , Naerland T , Knudsen-Heier S . Associations between psychiatric comorbid disorders and executive dysfunctions in hypocretin-1 deficient pediatric narcolepsy type1. Sleep Med, 2023, 109: 149- 157. doi: 10.1016/j.sleep.2023.06.021
34	Quaedackers L , Van Gilst MM , Van Den Brandt I , Vilanova A , Lammers GJ , Markopoulos P , Overeem S . The burden of narcolepsy in adults: a population sampling study using personal media. Behav Sleep Med, 2023, 29: 1- 11.
35	Ni K , Liu Y , Zhu X , Tan H , Zeng Y , Guo Q , Xiao L , Yu B . Changed cerebral white matter structural network topological characters and its correlation with cognitive behavioral abnormalities in narcolepsy type 1. Nat Sci Sleep, 2022, 14: 165- 173. doi: 10.2147/NSS.S336967
36	Berry RB. Sleep medicine[M]. Gao H, Wang WE, Duan Y, Guo JJ, trans. Beijing: People's Military Medical Press, 2014: 74-81.
	Berry RB. 睡眠医学基础[M]. 高和, 王莞尔, 段莹, 郭静静, 译. 北京: 人民军医出版社, 2014: 74-81.
37	Pizza F , Vandi S , Iloti M , Franceschini C , Liguori R , Mignot E , Plazzi G . Nocturnal sleep dynamics identify narcolepsy type 1. Sleep, 2015, 38: 1277- 1284. doi: 10.5665/sleep.4908
38	Pizza F , Moghadam KK , Vandi S , Detto S , Poli F , Mignot E , Ferri R , Plazzi G . Daytime continuous polysomnography predicts MSLT results in hypersomnias of central origin. J Sleep Res, 2013, 22: 32- 40. doi: 10.1111/j.1365-2869.2012.01032.x
39	Zhang Y , Ren R , Yang L , Zhang H , Shi Y , Vitiello MV , Tang X , Sanford LD . Comparative polysomnography parameters between narcolepsy type 1/type 2 and idiopathic hypersomnia: a systematic review and meta-analysis. Sleep Med Rev, 2022, 63: 101610. doi: 10.1016/j.smrv.2022.101610
40	Maski K , Mignot E , Plazzi G , Dauvilliers Y . Disrupted nighttime sleep and sleep instability in narcolepsy. J Clin Sleep Med, 2022, 18: 289- 304. doi: 10.5664/jcsm.9638
41	Trenkwalder C , Allen R , Högl B , Clemens S , Patton S , Schormair B , Winkelmann J . Comorbidities, treatment, and pathophysiology in restless legs syndrome. Lancet Neuro, 2018, 17: 994- 1005. doi: 10.1016/S1474-4422(18)30311-9
42	Plazzi G , Ferri R , Antelmi E , Bayard S , Franceschini C , Cosentino FI , Abril B , Spruyt K , Provini F , Montagna P , Dauvilliers Y . Restless legs syndrome is frequent in narcolepsy with cataplexy patients. Sleep, 2010, 33: 689- 694. doi: 10.1093/sleep/33.5.689
43	Um YH , Oh J , Kim SM , Kim TW , Seo HJ , Jeong JH , Hong SC . Differential characteristics of repeated polysomnography and multiple sleep latency test parameters in narcolepsy type 1 and type 2 patients: a longitudinal retrospective study. Sleep Breath, 2022, 26: 1939- 1946. doi: 10.1007/s11325-021-02525-7
44	Stražar M , Park J , Abelin JG , Taylor HB , Pedersen TK , Plichta DR , Brown EM , Eraslan B , Hung YM , Ortiz K , Clauser KR , Carr SA , Xavier RJ , Graham DB . HLA-Ⅱ immunopeptidome profiling and deep learning reveal features of antigenicity to inform antigen discovery. Immunity, 2023, 56: 1681- 1698.e13. doi: 10.1016/j.immuni.2023.05.009
45	Ollila HM , Sharon E , Lin L , Sinnott-Armstrong N , Ambati A , Yogeshwar SM , Hillary RP , Jolanki O , Faraco J , Einen M , Luo G , Zhang J , Han F , Yan H , Dong XS , Li J , Zhang J , Hong SC , Kim TW , Dauvilliers Y , Barateau L , Lammers GJ , Fronczek R , Mayer G , Santamaria J , Arnulf I , Knudsen-Heier S , Bredahl MKL , Thorsby PM , Plazzi G , Pizza F , Moresco M , Crowe C , Van den Eeden SK , Lecendreux M , Bourgin P , Kanbayashi T , Martínez-Orozco FJ , Peraita-Adrados R , Benetó A , Montplaisir J , Desautels A , Huang YS , Jennum P , Nevsimalova S , Kemlink D , Iranzo A , Overeem S , Wierzbicka A , Geisler P , Sonka K , Honda M , Högl B , Stefani A , Coelho FM , Mantovani V , Feketeova E , Wadelius M , Eriksson N , Smedje H , Hallberg P , Hesla PE , Rye D , Pelin Z , Ferini-Strambi L , Bassetti CL , Mathis J , Khatami R , Aran A , Nampoothiri S , Olsson T , Kockum I , Partinen M , Perola M , Kornum BR , Rueger S , Winkelmann J , Miyagawa T , Toyoda H , Khor SS , Shimada M , Tokunaga K , Rivas M , Pritchard JK , Risch N , Kutalik Z , O'Hara R , Hallmayer J , Ye CJ , Mignot EJ , FinnGen . Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy. Nat Commun, 2023, 14: 2709. doi: 10.1038/s41467-023-36120-z
46	Liblau RS, Latorre D, Kornum BR, Dauvilliers Y, Mignot EJ. The immunopathogenesis of narcolepsy type 1[J]. Nat Rev Immunol, 2023. [Epub ahead of print]
47	Tafti M , Hor H , Dauvilliers Y , Lammers GJ , Overeem S , Mayer G , Javidi S , Iranzo A , Santamaria J , Peraita-Adrados R , Vicario JL , Arnulf I , Plazzi G , Bayard S , Poli F , Pizza F , Geisler P , Wierzbicka A , Bassetti CL , Mathis J , Lecendreux M , Donjacour CE , van der Heide A , Heinzer R , Haba-Rubio J , Feketeova E , Högl B , Frauscher B , Benetó A , Khatami R , Cañellas F , Pfister C , Scholz S , Billiard M , Baumann CR , Ercilla G , Verduijn W , Claas FH , Dubois V , Nowak J , Eberhard HP , Pradervand S , Hor CN , Testi M , Tiercy JM , Kutalik Z . DQB1 locus alone explains most of the risk and protection in narcolepsy with cataplexy in Europe. Sleep, 2014, 37: 19- 25. doi: 10.5665/sleep.3300
48	Alaez C , Lin L , Flores-AH , Vazquez M , Munguia A , Mignot E , Haro R , Baker H , Gorodezky C . Association of narcolepsy-cataplexy with HLA-DRB1 and DQB1 in Mexican patients: a relationship between HLA and gender is suggested. BMC Med Genet, 2008, 9: 79.
49	Jeong JH , Hong SC , Shin YK , Han JH , Lee SP . HLA-DQB1 allele and hypocretin in Korean narcoleptics with cataplexy. J Korean Med Sci, 2007, 22: 127- 131. doi: 10.3346/jkms.2007.22.1.127
50	Geremew D , Rahimi-Golkhandan A , Sadeghniiat-Haghighi K , Shakiba Y , Khajeh-Mehrizi A , Ansaripour B , Izad M . Association study of HLA-DQB1*0602 allele in Iranian patients with narcolepsy. Iran J Allergy Asthma Immunol, 2017, 16: 452- 456.
51	Ollila HM , Ravel JM , Han F , Faraco J , Lin L , Zheng X , Plazzi G , Dauvilliers Y , Pizza F , Hong SC , Jennum P , Knudsen S , Kornum BR , Dong XS , Yan H , Hong H , Coquillard C , Mahlios J , Jolanki O , Einen M , Arnulf I , Högl B , Frauscher B , Crowe C , Partinen M , Huang YS , Bourgin P , Vaarala O , Désautels A , Montplaisir J , Mack SJ , Mindrinos M , Fernandez-Vina M , Mignot E . HLA-DPB1 and HLA class Ⅰ confer risk of and protection from narcolepsy. Am J Hum Genet, 2015, 96: 136- 146. doi: 10.1016/j.ajhg.2014.12.010
52	Stranks L, Ellender CM, Wong K, Naqvi H, Grunstein R, Yee BJ, Sivam S. Retrospective cohort study of hypersomnias of central origin from two Australian tertiary sleep disorders services[J]. Intern Med J, 2022. [Epub ahead of print]
53	Reading PJ . Update on narcolepsy. J Neurol, 2019, 266: 1809- 1815. doi: 10.1007/s00415-019-09310-3
54	Kachooei-Mohaghegh-Yaghoobi L , Rezaei-Rad F , Sadeghniiat-Haghighi K , Zamani M . The impact of the HLA DQB1 gene and amino acids on the development of narcolepsy. Int J Neurosci, 2022, 132: 706- 713. doi: 10.1080/00207454.2020.1835903

观察指标	对照组（n=33）	NT1组（n=35）	统计量值	P值
性别[例（%）]			0.025	0.876
男性	23（69.70）	25（71.43）
女性	10（30.30）	10（28.57）
年龄（${\bar x}$±s，岁）	29.00±11.85	29.80±12.19	-0.274	0.785
BMI [M（P₂₅，P₇₅），kg/m²]	22.49 （20.31，24.63）	30.75 （26.84，33.91）	-4.632	0.000
受教育程度 [M（P₂₅，P₇₅），年]	16.00 （12.00，16.00）	16.00 （9.00，16.00）	-0.731	0.461
高血压[例（%）]	2（6.06）	1（2.86）	—	0.608
吸烟[例（%）]	2（6.06）	2（5.71）	—	1.000
饮酒[例（%）]	3（9.09）	3（8.57）	—	1.000

观察指标	对照组（n=33）	NT1组（n=35）	统计量值	P值
性别[例（%）]			0.025	0.876
男性	23（69.70）	25（71.43）
女性	10（30.30）	10（28.57）
年龄（${\bar x}$±s，岁）	29.00±11.85	29.80±12.19	-0.274	0.785
BMI [M（P₂₅，P₇₅），kg/m²]	22.49 （20.31，24.63）	30.75 （26.84，33.91）	-4.632	0.000
受教育程度 [M（P₂₅，P₇₅），年]	16.00 （12.00，16.00）	16.00 （9.00，16.00）	-0.731	0.461
高血压[例（%）]	2（6.06）	1（2.86）	—	0.608
吸烟[例（%）]	2（6.06）	2（5.71）	—	1.000
饮酒[例（%）]	3（9.09）	3（8.57）	—	1.000

观察指标	对照组（n=33）	NT1组（n=35）	t或Z值	P值
MoCA （${\bar x}$±s，评分）	29.61±0.79	27.29±3.82	3.159	0.004
TMT-A完成时间（${\bar x}$±s，s）	23.90±8.52	26.27±9.02	-1.079	0.285
TMT-B完成时间（${\bar x}$±s，s）	40.35±11.56	50.58±21.19	-2.126	0.019
HVLT-R正确个数（${\bar x}$±s，个）
第1次即刻回忆	7.44±2.58	5.73±1.94	3.028	0.004
第2次即刻回忆	8.59±2.35	7.42±2.24	2.054	0.044
第3次即刻回忆	9.69±2.31	8.97±2.24	1.272	0.208
延迟回忆	8.63±1.76	7.55±2.40	1.820	0.075
HAMA [M（P₂₅，P₇₅），评分]	1.00 （0.00，3.00）	9.00 （5.25，12.00）	-5.109	0.000
HAMD-17 [M（P₂₅，P₇₅），评分]	1.00 （0.00，2.00）	3.00 （1.00，7.00）	-3.204	0.001
ESS（${\bar x}$±s，评分）	5.61±2.68	17.31±4.21	-13.609	0.000
PSQI [M（P₂₅，P₇₅），评分]	2.00 （1.00，3.75）	7.00 （2.25，8.75）	-3.004	0.003

观察指标	对照组（n=33）	NT1组（n=35）	t或Z值	P值
MoCA （${\bar x}$±s，评分）	29.61±0.79	27.29±3.82	3.159	0.004
TMT-A完成时间（${\bar x}$±s，s）	23.90±8.52	26.27±9.02	-1.079	0.285
TMT-B完成时间（${\bar x}$±s，s）	40.35±11.56	50.58±21.19	-2.126	0.019
HVLT-R正确个数（${\bar x}$±s，个）
第1次即刻回忆	7.44±2.58	5.73±1.94	3.028	0.004
第2次即刻回忆	8.59±2.35	7.42±2.24	2.054	0.044
第3次即刻回忆	9.69±2.31	8.97±2.24	1.272	0.208
延迟回忆	8.63±1.76	7.55±2.40	1.820	0.075
HAMA [M（P₂₅，P₇₅），评分]	1.00 （0.00，3.00）	9.00 （5.25，12.00）	-5.109	0.000
HAMD-17 [M（P₂₅，P₇₅），评分]	1.00 （0.00，2.00）	3.00 （1.00，7.00）	-3.204	0.001
ESS（${\bar x}$±s，评分）	5.61±2.68	17.31±4.21	-13.609	0.000
PSQI [M（P₂₅，P₇₅），评分]	2.00 （1.00，3.75）	7.00 （2.25，8.75）	-3.004	0.003

观察指标	对照组（n=29）	NT1组（n=35）	Z或t值	P值
总记录时间 [M（P₂₅，P₇₅），min]	512.48 （470.08，542.82）	548.50 （518.25，605.50）	-4.491	0.000
TST [M（P₂₅，P₇₅），min]	401.50 （366.25，417.38）	428.25 （362.38，476.38）	1.793	0.078
SE（${\bar x}$±s，%）	88.32±5.97	73.50±12.91	-2.489	0.016
SL [M（P₂₅，P₇₅），min]	11.00 （4.38，15.63）	1.50 （1.00，4.50）	-4.112	0.000
RSL [M（P₂₅，P₇₅），min]	114.00 （90.25，172.75）	3.00 （1.88，70.25）	-4.318	0.000
NREM 1期占比 [M（P₂₅，P₇₅），%]	10.50 （7.00，17.75）	15.00 （9.75，24.00）	-1.845	0.065
NREM 2期占比 [M（P₂₅，P₇₅），%]	59.58±8.10	45.79±12.36	-5.224	0.000
NREM 3期占比 [M（P₂₅，P₇₅），%]	13.00 （4.00，16.00）	18.00 （10.00，20.00）	-2.647	0.008
REM占比（${\bar x}$±s，%）	12.92±5.55	22.79±9.56	2.908	0.005
PLMSI [M（P₂₅，P₇₅），次/h]	0.00 （0.00，1.65）	3.30 （1.70，8.10）	-3.501	0.000
平均SaO₂ [M（P₂₅，P₇₅），%]	95.00 （94.00，96.50）	96.00 （94.00，97.00）	-0.707	0.480
最低SaO₂ [M（P₂₅，P₇₅），%]	88.00 （86.00，93.50）	81.00 （88.00，94.00）	-0.603	0.547

选择文件类型/文献管理软件名称

选择包含的内容

2 发作性睡病1型患者神经心理学、睡眠结构及HLA-DQB1基因型分布特征

Characteristics of neuropsychological, sleep structure and distribution of HLA-DQB1 genotype of narcolepsy type 1

RichHTML

PDF

可视化

被引次数

摘要/Abstract

引用本文

使用本文

图/表 3

参考文献 54

相关文章 15

编辑推荐

Metrics

本文评价

[1]	于洁洋, 张亚男, 李惠敏, 黄真灿, 李宛儒, 王赞. 发作性睡病与焦虑研究进展[J]. 中国现代神经疾病杂志, 2023, 23(8): 678-682.
[2]	万亚会, 吕梦頔, 李征, 周凯丽, 高海静, 薛蓉. 慢性失眠合并阻塞性睡眠呼吸暂停患者睡眠结构和自主神经功能特征及其与神经心理特征相关分析[J]. 中国现代神经疾病杂志, 2023, 23(8): 693-708.
[3]	罗玲, 陈荣华, 肖迎春, 余尔涵, 潘晓东. 特发性快速眼动睡眠期行为障碍患者认知功能特点及其与睡眠结构相关性分析[J]. 中国现代神经疾病杂志, 2023, 23(6): 549-559.
[4]	苏玉洁, 孙嫣, 凌怡, 张侃, 刘晓燕, 彭国平. 老年轻度认知损害患者抑郁情绪与认知功能相关性分析[J]. 中国现代神经疾病杂志, 2023, 23(4): 292-302.
[5]	肖金雯, 王金涛, 李建平, 李海霞, 王继先, 张晶璟, 占世坤, 徐刚, 管永靖, 王刚. 功能性运动障碍患者头部MRI结构特征研究[J]. 中国现代神经疾病杂志, 2023, 23(12): 1109-1115.
[6]	李一凡, 邹红梅, 夏建国, 王宁, 张继, 田为中. 神经精神狼疮患者脑局部自发神经元活动的静息态功能磁共振成像研究[J]. 中国现代神经疾病杂志, 2023, 23(11): 1035-1042.
[7]	宋云飞, 赵岩, 贾晓丹, 孙超, 杨树源, 杨新宇. 颞浅动脉-大脑中动脉搭桥术联合脑-颞肌贴敷术对烟雾病患者认知功能的影响[J]. 中国现代神经疾病杂志, 2022, 22(9): 805-809.
[8]	杨娟, 毓青, 姚晓娟, 杨卫东, 陈旨娟. 颞叶癫痫患者执行功能特点及其与影响因素相关分析[J]. 中国现代神经疾病杂志, 2022, 22(7): 578-585.
[9]	谢飞, 刘秋皖, 耿直, 胡盼盼, 吴君仓. 帕金森病患者跨期决策能力障碍研究[J]. 中国现代神经疾病杂志, 2022, 22(11): 988-992.
[10]	候林林, 王月枫, 郭程程, 李英丽, 孟丽娜. 血管性认知损害神经心理学测验研究进展[J]. 中国现代神经疾病杂志, 2021, 21(12): 1036-1041.
[11]	胡盼盼, 周珊珊, 吴兴启, 田仰华, 朱春燕, 汪凯. HKU-AHMU成套量表在不同年龄健康人群中的应用[J]. 中国现代神经疾病杂志, 2021, 21(12): 1046-1056.
[12]	许洛伊, 魏丽丽, 章迎春, 朱振伟, 李一飞, 陈炜. 轻度认知损害筛查量表在浙江省杭州市农村社区老年人轻度认知损害筛查中的应用[J]. 中国现代神经疾病杂志, 2021, 21(12): 1057-1063.
[13]	宋小慧, 乔勇军, 谢青, 林国珍, 史以珏, 金海燕. 首发抑郁症患者词语流畅性任务脑激活特征[J]. 中国现代神经疾病杂志, 2021, 21(12): 1073-1077.
[14]	李宗姗, 魏丽丽, 桂雅星, 陈炜. 认知功能评估量表研发与应用进展[J]. 中国现代神经疾病杂志, 2021, 21(11): 927-933.
[15]	陈嫄, 张淼, 王艳, 张惠红, 周玉颖, 李攀. 阿尔茨海默病伴脑白质病变患者认知功能及精神行为特征[J]. 中国现代神经疾病杂志, 2021, 21(11): 951-959.

模态框（Modal）标题

选择文件类型/文献管理软件名称

选择包含的内容

2 发作性睡病1型患者神经心理学、睡眠结构及HLA-DQB1基因型分布特征

Characteristics of neuropsychological, sleep structure and distribution of HLA-DQB1 genotype of narcolepsy type 1

RichHTML

PDF

可视化

被引次数

摘要/Abstract

引用本文

使用本文

图/表 3

参考文献 54

相关文章 15

编辑推荐

Metrics

本文评价