Neuroimaging findings in narcolepsy with cataplexy

Current Neurology and Neuroscience Reports

Volumn 13, Issue 5, 2013, Pages

  Dang Vu, Thien Thanh ^a,b  

^a Dept of Electrical and Computer Engineering   (Canada)

^b NONE   (Canada)

Author keywords

Cataplexy; DTI; FMRI; Narcolepsy; PET; Sleep; SPECT; VBM

Indexed keywords

AMYGDALOID NUCLEUS; ARTICLE; BRAIN PERFUSION; CATAPLEXY; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; EMOTION; FUNCTIONAL MAGNETIC RESONANCE IMAGING; GLUCOSE METABOLISM; GRAY MATTER; HIPPOCAMPUS; HUMAN; MESENCEPHALON; NARCOLEPSY; NEUROIMAGING; NUCLEUS ACCUMBENS; PATHOPHYSIOLOGY; POSITRON EMISSION TOMOGRAPHY; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; THALAMUS; WAKEFULNESS; WHITE MATTER; BRAIN; METHODOLOGY; PATHOLOGY; REVIEW;

BRAIN; CATAPLEXY; HUMANS; NARCOLEPSY; NEUROIMAGING;

EID: 84883746649     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0349-0     Document Type: Article

References (58)

1. Dauvilliers Y, Arnulf I, Mignot E. Narcolepsy with cat (Pubitemid 46209316)
2. 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(11): 2029-33. (Pubitemid 33126870)
3. z.ast;0602 is associated with cataplexy in 509 narcoleptic patients. Sleep. 1997; 20(11): 1012-20. (Pubitemid 28042450)
4. 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(3): 365-76. (Pubitemid 29380571)
5. Nishino S, Ripley B, Overeem S., Lammers GJ, Mignot E. Hypocretin (orexin) deficiency in human narcolepsy. Lancet. 2000; 355(9197): 39-40. (Pubitemid 30072183)
6. 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(3): 469-74.
7. Mignot E, Lammers GJ, Ripley B, Okun M., Nevsimalova S, Overeem S, et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol. 2002; 59(10): 1553-62.
8. Sakurai T. The neural circuit of orexin (hypocretin): maintaining sleep and wakefulness. Nat Rev Neurosci. 2007; 8(3): 171-81. (Pubitemid 46294664)
9. Dang-Vu T.T., Desseilles M, Schwartz S., Maquet P. Neuroimaging of narcolepsy. CNS Neurol Disord Drug Targets. 2009; 8(4): 254-63.
10. Dang-Vu T.T., Desseilles M, Petit D., Mazza S, Montplaisir J, Maquet P. Neuroimaging in sleep medicine. Sleep Med. 2007; 8(4): 349-72. (Pubitemid 46706352)
11. Desseilles M, Dang-Vu T, Schabus M., Sterpenich V, Maquet P, Schwartz S. Neuroimaging insights into the pathophysiology of sleep disorders. Sleep. 2008; 31(6): 777-94. (Pubitemid 351810507)
12. Dang-Vu T.T., Schwartz S. Functional neuroimaging of narcolepsy. In: Nofzinger EA, Maquet P, Thorpy M, editors. Neuroimaging of sleep and sleep disorders. Cambridge: Cambridge University Press; 2013. p. 223-7.
13. Ellis CM, Simmons A, Lemmens G., Williams SC, Parkes JD. Proton spectroscopy in the narcoleptic syndrome. Is there evidence of a brainstem lesion? Neurology. 1998; 50(2 Suppl 1): S23-6. (Pubitemid 28100863)
14. Kim SJ, Lyoo IK, Lee Y.S., Sung YH, Kim HJ, Kim JH, et al. Increased GABA levels in medial prefrontal cortex of young adults with narcolepsy. Sleep. 2008; 31(3): 342-7. (Pubitemid 351536506)
15. Lodi R, Tonon C, Vignatelli L., Iotti S, Montagna P, Barbiroli B., et al. In vivo evidence of neuronal loss in the hypothalamus of narcoleptic patients. Neurology. 2004; 63(8): 1513-5. (Pubitemid 39426294)
16. Poryazova R, Schnepf B, Werth E., Khatami R, Dydak U, Meier D., et al. Evidence for metabolic hypothalamo-amygdala dysfunction in narcolepsy. Sleep. 2009; 32(5): 607-13.
17. Hublin C, Launes J, Nikkinen P., Partinen M. Dopamine D2-receptors in human narcolepsy: A SPECT study with 123I-IBZM. Acta Neurol Scand. 1994; 90(3): 186-9.
18. Staedt J, Stoppe G, Kogler 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(2): 107-11.
19. Khan N, Antonini A, Parkes D., Dahlitz MJ, Meier-Ewert K, Weindl A, et al. Striatal dopamine D2 receptors in patients with narcolepsy measured with PET and 11C-raclopride. Neurology. 1994; 44(11): 2102-4.
20. Rinne JO, Hublin C, Partinen M., Ruottinen H, Ruotsalainen U, Nagren K., et al. Positron emission tomography study of human narcolepsy: no increase in striatal dopamine D2 receptors. Neurology. 1995; 45(9): 1735-8.
21. 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(3): 305-10. (Pubitemid 27095255)
22. 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(1): 52-5. (Pubitemid 38161126)
23. Sudo Y, Suhara T, Honda Y., Nakajima T, Okubo Y, Suzuki K., et al. Muscarinic cholinergic receptors in human narcolepsy: A PET study. Neurology. 1998; 51(5): 1297-302. (Pubitemid 28520547)
24. Dang-Vu TT. Neuroimaging of treatment response in narcolepsy. In: Nofzinger EA, Maquet P, Thorpy M, editors. Neuroimaging of sleep and sleep disorders. Cambridge: Cambridge University Press; 2013. p. 228-30.
25. Bassetti C, Aldrich MS, Quint DJ. MRI findings in narcolepsy. Sleep. 1997; 20(8): 630-1. (Pubitemid 27449601)
26. Frey JL, Heiserman JE. Absence of pontine lesions in narcolepsy. Neurology. 1997; 48(4): 1097-9.
27. Buskova J, Vaneckova M, Sonka K., Seidl Z, Nevsimalova S. Reduced hypothalamic gray matter in narcolepsy with cataplexy. Neuro Endocrinol Lett. 2006; 27(6): 769-72. (Pubitemid 46138637)
28. Draganski B, Geisler P, Hajak G., Schuierer G, Bogdahn U, Winkler J., et al. Hypothalamic gray matter changes in narcoleptic patients. Nat Med. 2002; 8(11): 1186-8. (Pubitemid 35373535)
29. Joo EY, Tae WS, Kim S.T., Hong SB. Gray matter concentration abnormality in brains of narcolepsy patients. Korean J Radiol. 2009; 10(6): 552-8. This is an important study because it is the voxel-based-morphometry study that used the largest sample of drug-naive narcoleptic patients with cataplexy. The results confirmed the presence of structural alterations in the hypothalamus, thalamus, nucleus accumbens, and fronto-temporal areas.
30. Kim SJ, Lyoo IK, Lee Y.S., Lee JY, Yoon SJ, Kim JE, et al. Gray matter deficits in young adults with narcolepsy. Acta Neurol Scand. 2009; 119(1): 61-7.
31. Steriade M, McCormick DA, Sejnowski TJ. Thalamocortical oscillations in the sleeping and aroused brain. Science. 1993; 262(5134): 679-85. (Pubitemid 23350685)
32. Nykamp K, Rosenthal L, Helmus T., Gerhardstein R, Day R, Roehrs T., et al. Repeated nocturnal sleep latencies in narcoleptic, sleepy and alert subjects. Clin Neurophysiol. 1999; 110(9): 1531-4. (Pubitemid 29410424)
33. Vernet C, Arnulf I. Narcolepsy with long sleep time: A specific entity? Sleep. 2009; 32(9): 1229-35.
34. Plazzi G, Serra L, Ferri R. Nocturnal aspects of narcolepsy with cataplexy. Sleep Med Rev. 2008; 12(2): 109-28.
35. Bove A, Culebras A, Moore J.T., Westlake RE. Relationship between sleep spindles and hypersomnia. Sleep. 1994; 17(5): 449-55. (Pubitemid 24271520)
36. Khatami R, Landolt HP, Achermann P, Adam M., Retey JV, Werth E, et al. Challenging sleep homeostasis in narcolepsy-cataplexy: implications for non-REM and REM sleep regulation. Sleep. 2008; 31(6): 859-67. (Pubitemid 351810516)
37. Khatami R, Landolt HP, Achermann P, Retey J.V., Werth E., Mathis J, et al. Insufficient non-REM sleep intensity in narcolepsy-cataplexy. Sleep. 2007; 30(8): 980-9. (Pubitemid 47221898)
38. Overeem S, Steens SC, Good C.D., Ferrari MD, Mignot E, Frackowiak RS, et al. Voxel-based morphometry in hypocretin-deficient narcolepsy. Sleep. 2003; 26(1): 44-6.
39. Kaufmann C, Schuld A, Pollmacher T., Auer DP. Reduced cortical gray matter in narcolepsy: preliminary findings with voxel-based morphometry. Neurology. 2002; 58(12): 1852-5. (Pubitemid 34663592)
40. Brenneis C, Brandauer E, Frauscher B., Schocke M, Trieb T, Poewe W., et al. Voxel-based morphometry in narcolepsy. Sleep Medicine. 2005; 6: 531-6. (Pubitemid 41671208)
41. Scherfler C, Frauscher B, Schocke M., Nocker M, Gschliesser V, Ehrmann L., et al. White and gray matter abnormalities in narcolepsy with cataplexy. Sleep. 2012; 35(3): 345-51. This study is the only one that combined measurements of regional brain volumes (using voxel-based-morphometry) with assessments of fiber tract integrity (using diffusion tensor imaging) in narcolepsy-cataplexy patients. Abnormalities were found in critical subcortical (hypothalamus, midbrain) and cortical (fronto-temporal, cingulate) structures.
42. Joo EY, Jeon S, Lee M., Kim ST, Yoon U, Koo DL, et al. Analysis of cortical thickness in narcolepsy patients with cataplexy. Sleep. 2011; 34(10): 1357-64. This study characterized the cortical abnormalities in a relatively large sample of28 narcolepsy-cataplexy patients, all unmedicated, and demonstrated a relationship between neurostructural modifications and subjective clinical impairment.
43. Schaer M, Poryazova R, Schwartz S., Bassetti CL, Baumann CR. Cortical morphometry in narcolepsy with cataplexy. J Sleep Res. 2012; 21(5): 487-94. Despite the relatively limited sample size (12 patients), this study is of interest because it reported a relationship between cortical abnormalities and a more refined - integrative-score of clinical severity in narcolepsy-cateplexy In addition, assessment of regional brain volumes was performed using a method unbiased by non-linear registration.
44. Joo EY, Kim SH, Kim S.T., Hong SB. Hippocampal volume and memory in narcoleptics with cataplexy. Sleep Med. 2012; 13(4): 396-401. Conducted on a large sample of 36 drug-naive narcolepsy-cataplexy patients, this study not only demonstrated reduced hippocampal volumes in this disorder, but also showed a relationship between size reduction and objective daytime sleepiness.
45. Brabec J, Rulseh A, Horinek D., Pala A, Guerreiro H, Buskova J., et al. Volume of the amygdala is reduced in patients with narcolepsy - a structural MRI study. Neuro Endocrinol Lett. 2011; 32(5): 652-6.
46. Menzler K Belke M, Unger MM, Ohletz T, Keil B, Heverhagen JT, et al. DTI reveals hypothalamic and brainstem white matter lesions in patients with idiopathic narcolepsy. Sleep Med. 2012; 13(6): 736-42. This diffusion-tensor- imaging study found a nearly significant correlation between fractional anistropy changes in the hypothalamus and subjective daytime sleepiness in a limited sample of 8 narcoleptic patients with cataplexy, which therefore suggested a direct relationship between hypocretin deficit and daytime impairment.
47. Baumann CR, Khatami R, Werth E., Bassetti CL. Hypocretin (orexin) deficiency predicts severe objective excessive daytime sleepiness in narcolepsy with cataplexy. J Neurol Neurosurg Psychiatry. 2006; 77(3): 402-4.
48. Meyer JS, Sakai F, Karacan I., Derman S, Yamamoto M. Sleep apnea, narcolepsy, and dreaming: regional cerebral hemodynamics. Ann Neurol. 1980; 7(5): 479-85. (Pubitemid 10073129)
49. Asenbaum S, Zeithofer J, Saletu B., Frey R, Brucke T, Podreka I., et al. Technetium-99m-HMPAO SPECT imaging of cerebral blood flow during REM sleep in narcoleptics. J Nucl Med. 1995; 36(7): 1150-5.
50. Joo EY, Tae WS, Kim J.H., Kim BT, Hong SB. Glucose hypometabolism of hypothalamus and thalamus in narcolepsy. Ann Neurol. 2004; 56(3): 437-40. (Pubitemid 39166566)
51. Dauvilliers Y, Comte F, Bayard S., Carlander B, Zanca M, Touchon J. A brain PET study in patients with narcolepsy-cataplexy. J Neurol Neurosurg Psychiatry. 2010; 81(3): 344-8.
52. Yeon Joo E., Hong SB, Tae W.S., Kim JH, Han SJ, Cho YW, et al. Cerebral perfusion abnormality in narcolepsy with cataplexy. NeuroImage. 2005; 28(2): 410-6. (Pubitemid 41443510)
53. Chabas D, Habert MO, Maksud P, Tourbah A., Minz M, Willer JC, et al. Functional imaging of cataplexy during status cataplecticus. Sleep. 2007; 30(2): 153-6.
54. Hong SB, Tae WS, Joo EY. Cerebral perfusion changes during cataplexy in narcolepsy patients. Neurology. 2006; 66(11): 1747-9. (Pubitemid 43964637)
55. 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(Pt 2): 514-22. (Pubitemid 351197605)
56. Reiss AL, Hoeft F, Tenforde A.S., Chen W., Mobbs D, Mignot EJ. Anomalous hypothalamic responses to humor in cataplexy. PLoS One. 2008; 3(5): e2225.
57. Ponz A, Khatami R, Poryazova R., Werth E, Boesiger P, Schwartz S., et al. Reduced amygdala activity during aversive conditioning in human narcolepsy. Ann Neurol. 2010; 67(3): 394-8. This paper extended previous findings that demonstrated altered amygdalar response to emotional stimulation in narcolepsy-cataplexy patients. This paper showed that brain responses in the amygdala was altered not only for positive emotional stimulation but also for negative stimuli (aversive conditioning).
58. Ponz A, Khatami R, Poryazova R., Werth E, Boesiger P, Bassetti C.L., et al. Abnormal activity in reward brain circuits in human narcolepsy with cataplexy. Ann Neurol. 2010; 67(2): 190-200. This is the first paper demonstrating a dysfunction of the neural circuits involved in reward processing in narcoleptic patients with cataplexy.