Complex movement disorders at disease onset in childhood narcolepsy with cataplexy

Brain

Volumn 134, Issue 12, 2011, Pages 3477-3489

  Plazzi, Giuseppe ^a   Pizza, Fabio ^a   Palaia, Vincenzo ^a   Franceschini, Christian ^a   Poli, Francesca ^a   Moghadam, Keivan K ^a   Cortelli, Pietro ^a   Nobili, Lino ^b   Bruni, Oliviero ^c   Dauvilliers, Yves ^d   Lin, Ling ^e   Edwards, Mark J ^f   Mignot, Emmanuel ^e   Bhatia, Kailash P ^f  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d GUI DE CHAULIAC HOSPITAL   (France)

^e STANFORD UNIVERSITY   (United States)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

chorea; hypotonia; movement disorder; narcolepsy with cataplexy; streptococcal infection

Indexed keywords

OREXIN;

ADULT; CATAPLEXY; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; COMPLEX MOVEMENT DISORDER; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; DYSKINESIA; DYSTONIA; FEMALE; HUMAN; MALE; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NARCOLEPSY; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; SCORING SYSTEM; STEREOTYPY;

EID: 83755225676     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awr244     Document Type: Conference Paper

References (101)

1. Alberto CO, Trask RB, Quinlan ME, Hirasawa M. Bidirectional dopaminergic modulation of excitatory synaptic transmission in orexin neurons. J Neurosci 2006; 26: 10043-50. (Pubitemid 44477165)
2. American Academy of Sleep Medicine. International classification of sleep disorders. Diagnostic and coding manual. 2nd edn. Westchester, IL: American Academy of Sleep Medicine; 2005.
3. Anic-Labat S, Guilleminault C, Kraemer HC, Meehan J, Arrigoni J, Mignot E. Validation of a cataplexy questionnaire in 983 sleepdisorders patients. Sleep 1999; 22: 77-87. (Pubitemid 29097901)
4. Aran A, Lin L, Nevsimalova S, Plazzi G, Hong SC, Weiner K. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009; 32: 979-83.
5. Aran A, Einen M, Lin L, Plazzi G, Nishino S, Mignot E. Clinical and therapeutic aspects of childhood narcolepsy-cataplexy: A retrospective study of 51 children. Sleep 2010; 33: 1457-64.
6. Bassetti C, Aldrich MS. Narcolepsy. Neurol Clin 1996; 14: 545-71. (Pubitemid 26269992)
7. Brass M, Haggard P. To do or not to do: the neural signature of self-control. J Neurosci 2007; 27: 9141-5. (Pubitemid 47312047)
8. Bubser M, Fadel JR, Jackson LL, Meador-Woodruff JH, Jing D, Deutch AY. Dopaminergic regulation of orexin neurons. Eur J Neurosci 2005; 21: 2993-3001. (Pubitemid 40917063)
9. Burgess CR, Tse G, Gillis L, Peever JH. Dopaminergic regulation of sleep and cataplexy in a murine model of narcolepsy. Sleep 2010; 33: 1295-304.
10. Cardoso F, Seppi K, Mair KJ, Wenning GK, Poewe W. Seminar on choreas. Lancet Neurol 2006; 5: 589-602. (Pubitemid 43867433)
11. Chabas D, Habert MO, Maksud P, Tourbah A, Minz M, Willer JC, et al. Functional imaging of cataplexy during status cataplecticus. Sleep 2007; 30: 153-6.
12. Chemelli RM, Willie JT, Sinton CM, Elmquist JK, Scammell T, Lee C, et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 1999; 98: 437-51. (Pubitemid 29402482)
13. Chervin RD, Archbold KH, Dillon JE, Panahi P, Pituch KJ, Dahl RE, et al. Inattention, hyperactivity, and symptoms of sleep-disordered breathing. Pediatrics 2002; 109: 449-56. (Pubitemid 34177508)
14. Cimaz R, Gana S, Braccesi G, Guerrini R. Sydenham's chorea in a girl with juvenile idiopathic arthritis treated with anti-TNFalpha therapy. Mov Disord 2010; 25: 511-4.
15. Cvetkovic-Lopes V, Bayer L, Dorsaz S, Maret S, Pradervand S, Dauvilliers Y, et al. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. J Clin Invest 2010; 120: 713-9.
16. Dale RC. Post-streptococcal autoimmune disorders of the central nervous system. Dev Med Child Neurol 2005; 47: 785-91. (Pubitemid 41600081)
17. Dauvilliers Y, Montplaisir J, Molinari N, Carlander B, Ondze B, Besset A, et al. Age at onset of narcolepsy in two large populations of patients in France and Quebec. Neurology 2001; 57: 2029-33. (Pubitemid 33126870)
18. Dauvilliers Y, Carlander B, Rivier F, Touchon J, Tafti M. Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann Neurol 2004; 56: 905-8. (Pubitemid 39578460)
19. Dauvilliers Y, Arnulf I, Mignot E. Narcolepsy with cataplexy. Lancet 2007a; 369: 499-511. (Pubitemid 46209316)
20. Dauvilliers Y, Pennestri MH, Petit D, Dang-Vu T, Lavigne G, Montplaisir J. Periodic leg movements during sleep and wakefulness in narcolepsy. J Sleep Res 2007b; 16: 333-9. (Pubitemid 47283926)
21. Dauvilliers Y, Abril B, Mas E, Michel F, Tafti M. Normalization of hypocretin-1 in narcolepsy after intravenous immunoglobulin treatment. Neurology 2009; 73: 1333-4.
22. Dauvilliers Y, Montplaisir J, Cochen V, Desautels A, Einen M, Lin L, et al. Post-H1N1 narcolepsy-cataplexy. Sleep 2010; 33: 1428-30.
23. de Lecea L, Kilduff TS, Peyron C, Gao X, Foye PE, Danielson PE, et al. The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc Natl Acad Sci USA 1998; 95: 322-27. (Pubitemid 28103952)
24. Dhondt K, Verhelst H, Pevernagie D, Slap F, Van Coster R. Childhood narcolepsy with partial facial cataplexy: A diagnostic dilemma. Sleep Med 2009; 10: 797-8.
25. Eisensehr I, Linke R, Tatsch K, von Lindeiner H, Kharraz B, Gildehaus FJ, et al. Alteration of the striatal dopaminergic system in human narcolepsy. Neurology 2003; 60: 1817-9. (Pubitemid 36737080)
26. Fadel J, Deutch AY. Anatomical substrates of orexin-dopamine interactions: lateral hypothalamic projections to the ventral tegmental area. Neuroscience 2002; 111: 379-87. (Pubitemid 34442621)
27. Ferri R, Zucconi M, Manconi M, Bruni O, Ferini-Strambi L, Vandi S, et al. Different periodicity and time structure of leg movements during sleep in narcolepsy/cataplexy and restless legs syndrome. Sleep 2006; 29: 1587-94. (Pubitemid 44936467)
28. Ferri R, Franceschini C, Zucconi M, Vandi S, Poli F, Bruni O, et al. Searching for a marker of REM sleep behavior disorder: submentalis muscle EMG amplitude analysis during sleep in patients with narcolepsy/cataplexy. Sleep 2008; 31: 1409-17.
29. Fleiss JL. Statistical methods for rates and proportions. New York: John Wiley and Sons; 1981. p. 212-36.
30. Fontana A, Gast H, Reith W, Recher M, Birchler T, Bassetti CL. Narcolepsy: autoimmunity, effector T cell activation due to infection, or T cell independent, major histocompatibility complex class II induced neuronal loss? Brain 2010; 133: 1300-11.
31. Gatti FM, Rosenheim E. Sydenham's chorea associated with transient intellectual impairment. A case study and review of the literature. Am J Dis Child 1969; 118: 915-8.
32. Gélineau J. De la narcolepsie. Gazette des Hôpitaux 1880; 53: 626-8.
33. Gulyani S, Wu MF, Nienhuis R, John J, Siegel JM. Cataplexy-related neurons in the amygdala of the narcoleptic dog. Neuroscience 2002; 112: 355-65. (Pubitemid 34607019)
34. Hallmayer J, Faraco J, Lin L, Hesselson S, Winkelmann J, Kawashima M, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet 2009; 41: 708-11.
35. Hecht M, Lin L, Kushida CA, Umetsu DT, Taheri S, Einen M, et al. Report of a case of immunosuppression with prednisone in an 8-year-old boy with an acute onset of hypocretin-deficiency narcolepsy. Sleep 2003; 26: 809-10. (Pubitemid 39610624)
36. Honda K, Riehl J, Mignot E, Nishino S. Dopamine D3 agonists into the substantia nigra aggravate cataplexy but do not modify sleep. Neuro Report 1999; 10: 3717-24.
37. Hong SB, Tae WS, Joo EY. Cerebral perfusion changes during cataplexy in narcolepsy patients. Neurology 2006a; 66: 1747-9.
38. Hong SC, Lin L, Jeong JH, Shin YK, Han JH, Lee JH, et al. A study of the diagnostic utility of HLA typing, CSF hypocretin-1 measurements, and MSLT testing for the diagnosis of narcolepsy in 163 Korean patients with unexplained excessive daytime sleepiness. Sleep 2006b; 29: 1429-38. (Pubitemid 44764668)
39. Hor H, Kutalik Z, Dauvilliers Y, Valsesia A, Lammers GJ, Donjacour CE, et al. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet 2010; 42: 786-9.
40. Kanbayashi T, Honda K, Kodama T, Mignot E, Nishino S. Implication of dopaminergic mechanisms in the wake-promoting effects of amphetamine: A study of D and L-derivatives in canine narcolepsy. Neuroscience 2000; 99: 651-9.
41. Kawashima M, Lin L, Tanaka S, Jennum P, Knudsen S, Nevsimalova S, et al. Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep 2010; 33: 869-74.
42. Knudsen S, Gammeltoft S, Jennum PJ. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency. Brain 2010; 133: 568-79.
43. Kornum BR, Kawashima M, Faraco J, Lin L, Rico TJ, Hesselson S, et al. Common variants in P2RY11 are associated with narcolepsy. Nat Genet 2011; 43: 66-71.
44. Koepsell TD, Longstreth WT, Ton TG. Medical exposures in youth and the frequency of narcolepsy with cataplexy: A population-based case-control study in genetically predisposed people. J Sleep Res 2010; 19: 80-6.
45. Kim SJ, Lyoo IK, Lee YS, Sung YH, Kim HJ, Kim JH, et al. Increased GABA levels in medial prefrontal cortex of young adults with narcolepsy. Sleep 2008; 31: 342-7. (Pubitemid 351536506)
46. Lammers GJ, Overeem S, Tijssen MA, van Dijk JG. Effects of startle and laughter in cataplectic subjects: A neurophysiological study between attacks. Clin Neurophysiol 2000; 111: 1276-81. (Pubitemid 30394495)
47. Lecendreux M, Maret S, Bassetti C, Mouren MC, Tafti M. Clinical efficacy of high-dose intravenous immunoglobulins near the onset of narcolepsy in a 10-year-old boy. J Sleep Res 2003; 12: 347-8. (Pubitemid 38010443)
48. Lin L, Faraco J, Li R, Kadotani H, Rogers W, Lin X, et al. The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 1999; 98: 365-76. (Pubitemid 29380571)
49. Littner MR, Kushida C, Wise M, Davila DG, Morgenthaler T, Lee-Chiong T, et al. Practice parameters for clinical use of the multiple sleep latency test and the maintenance of wakefulness test. Sleep 2005; 28: 113-21. (Pubitemid 40543126)
50. MacFarlane JG, List SJ, Moldofsky H, Firnau G, Chen JJ, Szechtman H, et al. Dopamine D2 receptors quantified in vivo in human narcolepsy. Biol Psychiatry 1997; 41: 305-10. (Pubitemid 27095255)
51. Madras BK, Xie Z, Lin Z, Jassen A, Panas H, Lynch L, et al. Modafinil occupies dopamine and norepinephrine transporters in vivo and modulates the transporters and trace amine activity in vitro. J Pharmacol Exp Ther 2006; 319: 561-9.
52. Mascaro MB, Prosdócimi FC, Bittencourt JC, Elias CF. Forebrain projections to brainstem nuclei involved in the control of mandibular movements in rats. Eur J Oral Sci 2009; 117: 676-84.
53. Mattarozzi K, Bellucci C, Campi C, Cipolli C, Ferri R, Franceschini C, et al. Clinical, behavioural and polysomnographic correlates of cataplexy in patients with narcolepsy/cataplexy. Sleep Med 2008; 9: 425-33. (Pubitemid 351664077)
54. Merino-Andreu M, Martinez-Bermejo A. Narcolepsia con y sin cataplejia: una enfermedad rara, limitante e infradiagnosticada. An Pediatr 2009; 71: 524-34.
55. Mignot E, Lin X, Arrigoni J, Macaubas C, Olive F, Hallmayer J, et al. DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans. Sleep 1994; 17 (Suppl. 8): S60-7.
56. Mignot E, Lin L, Rogers W, Honda Y, Qiu X, Lin X, et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 2001; 68: 686-99. (Pubitemid 32202763)
57. Miller JD, Faull KF, Bowersox SS, Dement WC. CNS monoamines and their metabolites in canine narcolepsy: A replication study. Brain Res 1990; 509: 169-71. (Pubitemid 20043638)
58. Morrish E, King MA, Smith IE, Shneerson JM. Factors associated with a delay in the diagnosis of narcolepsy. Sleep Med 2004; 5: 37-41. (Pubitemid 38145710)
59. Murillo-Rodríguez E, Haro R, Palomero-Rivero M, Millán-Aldaco D, Drucker-Colín R. Modafinil enhances extracellular levels of dopamine in the nucleus accumbens and increases wakefulness in rats. Behav Brain Res 2007; 176: 353-7. (Pubitemid 44895428)
60. Narita M, Nagumo Y, Hashimoto S, Narita M, Khotib J, Miyatake M, et al. Direct involvement of orexinergic systems in the activation of the mesolimbic dopamine pathway and related behaviors induced by morphine. J Neurosci 2006; 26: 398-405. (Pubitemid 43237102)
61. Nevsimalova S. Narcolepsy in childhood. Sleep Med Rev 2009; 13: 169-80.
62. Nishino S, Mignot E. Pharmacological aspects of human and canine narcolepsy. Prog Neurobiol 1997; 52: 27-78. (Pubitemid 27242520)
63. Ohayon MM, Ferini-Strambi L, Plazzi G, Smirne S, Castronovo V. Frequency of narcolepsy symptoms and other sleep disorders in narcoleptic patients and their first-degree relatives. J Sleep Res 2005; 14: 437-45. (Pubitemid 41814897)
64. Ohayon MM, Ferini-Strambi L, Plazzi G, Smirne S, Castronovo V. How age influences the expression of narcolepsy. J Psychosom Res 2005b; 59: 399-405. (Pubitemid 41676897)
65. Okura M, Riehl J, Mignot E, Nishino S. Sulpiride, a D2/D3 blocker, reduces cataplexy but not REM sleep in canine narcolepsy. Neuropsychopharmacology 2000; 23: 528-38.
66. Okura M, Fujiki N, Kita I, Honda K, Yoshida Y, Mignot E, et al. The roles of midbrain and diencephalic dopamine cell groups in the regulation of cataplexy in narcoleptic Dobermans. Neurobiol Dis 2004; 16: 274-82. (Pubitemid 38569817)
67. Oosterveer DM, Overweg-Plandsoen WC, Roos RA. Sydenham's chorea: A practical overview of the current literature. Pediatr Neurol 2010; 43: 1-6.
68. Overeem S, Lammers GJ, van Dijk JG. Weak with laughter. Lancet 1999; 354: 838. (Pubitemid 29415598)
69. 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: 12-8.
70. Peraita-Adrados R, García-Peñas JJ, Ruiz-FalcóL, Gutiérrez-Solana L, López-Esteban P, Vicario JL, et al. Clinical, polysomnographic and laboratory characteristics of narcolepsy-cataplexy in a sample of children and adolescents. Sleep Med 2011; 12: 24-7.
71. Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, et al. A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 2000; 6: 991-7.
72. Plazzi G, Parmeggiani A, Mignot E, Lin L, Scano MC, Posar A, et al. Narcolepsy-cataplexy associated with precocious puberty. Neurology 2006; 66: 1577-9. (Pubitemid 43958561)
73. Plazzi G, Serra L, Ferri R. Nocturnal aspects of narcolepsy with cataplexy. Sleep Med Rev 2008a; 12: 109-28.
74. Plazzi G, Poli F, Franceschini C, Parmeggiani A, Pirazzoli P, Bernardi F, et al. Intravenous high-dose immunoglobulin treatment in recent onset childhood narcolepsy with cataplexy. J Neurol 2008b; 255: 1549-54.
75. Plazzi G, Ferri R, Antelmi E, Bayard S, Franceschini C, Cosentino FI, et al. Restless legs syndrome is frequent in narcolepsy with cataplexy patients. Sleep 2010; 33: 689-94.
76. Ponz A, Khatami R, Poryazova R, Werth E, Boesiger P, Bassetti CL, et al. Abnormal activity in reward brain circuits in human narcolepsy with cataplexy. Ann Neurol 2010; 67: 190-200.
77. Qu WM, Huang ZL, Xu XH, Matsumoto N, Urade Y. Dopaminergic D1 and D2 receptors are essential for the arousal effect of modafinil. J Neurosci 2008; 28: 8462-9.
78. Reid MS, Tafti M, Nishino S, Sampathkumaran R, Siegel JM, Mignot E. Local administration of dopaminergic drugs into the ventral tegmental area modulates cataplexy in the narcoleptic canine. Brain Res 1996; 733: 83-100. (Pubitemid 26300960)
79. Reiss AL, Hoeft F, Tenforde AS, Chen W, Mobbs D, Mignot EJ. Anomalous hypothalamic responses to humor in cataplexy. PLoS One 2008; 3: e2225.
80. Rinne JO, Hublin C, Nagren K, Helenius H, Partinen M. Unchanged striatal dopamine transporter availability in narcolepsy: A PET study with [11C]-CFT. Acta Neurol Scand 2004; 109: 52-5. (Pubitemid 38161126)
81. Rye DB, Dihenia B, Weissman JD, Epstein CM, Bliwise DL. Presentation of narcolepsy after 40. Neurology 1998; 50: 459-65. (Pubitemid 28119789)
82. Sakurai T, Amemiya A, Ishii M, Matsuzaki I, Chemelli RM, Tanaka H, et al. Orexins and orexin receptors: A family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell 1998; 92: 573-85. (Pubitemid 28101119)
83. Saper CB, Scammell TE, Lu J. Hypothalamic regulation of sleep and circadian rhythms. Nature 2005; 437: 1257-63. (Pubitemid 41568665)
84. Schreyer S, Büttner-Ennever JA, Tang X, Mustari MJ, Horn AK. Orexin-A inputs onto visuomotor cell groups in the monkey brainstem. Neuroscience 2009; 164: 629-40.
85. Schwartz S, Ponz A, Poryazova R, Werth E, Boesiger P, Khatami R, et al. Abnormal activity in hypothalamus and amygdala during humour processing in human narcolepsy with cataplexy. Brain 2008; 131: 514-22. (Pubitemid 351197605)
86. Serra L, Montagna P, Mignot E, Lugaresi E, Plazzi G. Cataplexy features in childhood narcolepsy. Mov Disord 2008; 23: 858-65.
87. Staedt J, Stoppe G, Kögler A, Riemann H, Hajak G, Rodenbeck A, et al. [123I]IBZM SPET analysis of dopamine D2 receptor occupancy in narcoleptic patients in the course of treatment. Biol Psychiatry 1996; 39: 107-11.
88. Sturzenegger C, Bassetti CL. The clinical spectrum of narcolepsy with cataplexy: A reappraisal. J Sleep Res 2004; 13: 395-406. (Pubitemid 39627363)
89. Thannickal TC, Moore RY, Nienhuis R, Ramanathan L, Gulyani S, Aldrich M, et al. Reduced number of hypocretin neurons in human narcolepsy. Neuron 2000; 27: 469-74.
90. Toyoda H, Tanaka S, Miyagawa T, Honda Y, Tokunaga K, Honda M. Anti-Tribbles homolog 2 autoantibodies in Japanese patients with narcolepsy. Sleep 2010; 33: 875-8.
91. Valko PO, Khatami R, Baumann CR, Bassetti CL. No persistent effect of intravenous immunoglobulins in patients with narcolepsy with cataplexy. J Neurol 2008; 255: 1900-3.
92. Vetrugno R, D'Angelo R, Moghadam KK, Vandi S, Franceschini C, Mignot E, et al. Behavioural and neurophysiological correlates of human cataplexy: A video-polygraphic study. Clin Neurophysiol 2010; 121: 153-62.
93. Vittoz NM, Berridge CW. Hypocretin/orexin selectively increases dopamine efflux within the prefrontal cortex: involvement of the ventral tegmental area. Neuropsychopharmacology 2006; 31: 384-95. (Pubitemid 43113402)
94. Vittoz NM, Schmeichel B, Berridge CW. Hypocretin /orexin preferentially activates caudomedial ventral tegmental area dopamine neurons. Eur J Neurosci 2008; 28: 1629-40.
95. Volkow ND, Fowler JS, Logan J, Alexoff D, Zhu W, Telang F, et al. Effects of modafinil on dopamine and dopamine transporters in the male human brain: clinical implications. JAMA 2009; 301: 1148-54.
96. Westphal C. Eigentümliche mit Einschlafen verbundene Anfälle. Archiv für Psychiatrie und Nervenkrankheiten 1877; 7: 631-5.
97. Wisor JP, Nishino S, Sora I, Uhl GH, Mignot E, Edgar DM. Dopaminergic role in stimulant-induced wakefulness. J Neurosci 2001; 21: 1787-94. (Pubitemid 32184295)
98. Wisor JP, Eriksson KS. Dopaminergic-adrenergic interactions in the wake promoting mechanism of modafinil. Neuroscience 2005; 132: 1027-34. (Pubitemid 40602537)
99. Yamuy J, Fung SJ, Xi M, Chase MH. Hypocretinergic control of spinal cord motoneurons. J Neurosci 2004; 24: 5336-45. (Pubitemid 38747675)
100. Yoss RE, Daly DD. Criteria for the diagnosis of the narcoleptic syndrome. Proc Staff Meet Mayo Clin 1957; 32: 320-8.
101. Yoss RE, Daly DD. Narcolepsy in children. Pediatrics 1960; 25: 1025-33.