Gelastic epilepsy and hypothalamic hamartomas: Neuroanatomical analysis of brain lesions in 100 patients

Brain

Volumn 134, Issue 10, 2011, Pages 2960-2968

  Parvizi, Josef ^a   Le, Scheherazade ^a   Foster, Brett L ^a   Bourgeois, Blaise ^b   Riviello, James J ^c   Prenger, Erin ^d   Saper, Clifford ^b   Kerrigan, John F ^d,e  

^a STANFORD UNIVERSITY   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BARROW NEUROLOGICAL INSTITUTE   (United States)

^e PHOENIX CHILDREN'S HOSPITAL   (United States)

Author keywords

brain and behaviour; epilepsy; hypothalamus; laughter; subcortical seizures

Indexed keywords

ANTICONVULSIVE AGENT;

ARTICLE; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; DISEASE DURATION; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; GELASTIC SEIZURE; HAMARTOMA; HUMAN; HYPOTHALAMUS TUMOR; MAJOR CLINICAL STUDY; MALE; MAMMILLARY BODY; NEUROANATOMY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; TONIC CLONIC SEIZURE; TUMOR VOLUME;

EID: 80054080316     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awr235     Document Type: Article

References (61)

1. Arita K, Ikawa F, Kurisu K, Sumida M, Harada K, Uozumi T, et al. The relationship between magnetic resonance imaging findings and clinical manifestations of hypothalamic hamartoma. J Neurosur 1999; 91: 212-20.
2. Arroyo S, Lesser RP, Gordon B, Uematsu S, Hart J, Schwerdt P, et al. Mirth, laughter and gelastic seizures. Brain 1993; 116: 757-80. (Pubitemid 23242805)
3. Bandler R, Tork I. Midbrain periaqueductal grey region in the cat has afferent and efferent connections with solitary tract nuclei. Neurosci Lett 1987; 74: 1-6. (Pubitemid 17229016)
4. Barral V, Brunelle F, Brauner R, Rappaport R, Lallemand D. MRI of hypothalamic hamartomas in children. Pediatric Radiology 1988; 18: 449-52.
5. Berkovic SF, Andermann F, Melanson D, Ethier RE, Feindel W, Gloor P. Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann Neurol 1988; 23: 429-39.
6. Boyko OB, Curnes JT, Oakes WJ, Burger PC. Hamartomas of the tuber cinereum: CT, MR, and pathologic findings. AJNR. Am J Neuroradiol 1991; 12: 309-14.
7. Brandberg G, Raininko R, Eeg-Olofsson O. Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents. Eur J Paediatr Neurol 2004; 8: 35-44. (Pubitemid 38248079)
8. Cannon WB, Reymert ML. Neural organization for emotional expression. In: Martin CR, editor. Feelings and emotions, the Wittenberg symposium. Worcester, MA: Clark University Press; 1928. p. 257-69.
9. Cascino GD, Andermann F, Berkovic SF, Kuzniecky RI, Sharbrough FW, Keene DL, et al. Gelastic seizures and hypothalamic hamartomas: evaluation of patients undergoing chronic intracranial EEG monitoring and outcome of surgical treatment. Neurology 1993; 43: 747-50. (Pubitemid 23121968)
10. Chan YM, Fenoglio-Simeone KA, Paraschos S, Muhammad L, Troester MM, Ng YT, et al. Central precocious puberty due to hypo-thalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1. Hormone Res Paediatr 2010; 73: 312-9.
11. Coons SW, Rekate HL, Prenger EC, Wang N, Drees C, Ng YT, et al. The histopathology of hypothalamic hamartomas: study of 57 cases. J Neuropathol Exp Neurol 2010; 66: 131-41. (Pubitemid 46208734)
12. Debeneix C, Bourgeois M, Trivin C, Sainte-Rose C, Brauner R. Hypothalamic hamartoma: comparison of clinical presentation and magnetic resonance images. Horm Res 2001; 56: 12-8. (Pubitemid 34124181)
13. Delalande O, Fohlen M. Disconnecting surgical treatment of hypo-thalamic hamartoma in children and adults with refractory epilepsy and proposal of a new classification. Neurol Med Chir 2003; 43: 61-8. (Pubitemid 36305830)
14. DiFazio MP, Davis RG. Utility of early single photon emission computed tomography (SPECT) in neonatal gelastic epilepsy associated with hypothalamic hamartoma. J Child Neurol 2000; 15: 414-7. (Pubitemid 30418061)
15. Freeman JL, Coleman LT, Wellard RM, Kean MJ, Rosenfeld JV, Jackson GD, et al. MR imaging and spectroscopic study of epilepto-genic hypothalamic hamartomas: analysis of 72 cases. Am J Neuroradiol 2004; 25: 450-62. (Pubitemid 38374928)
16. Freeman JL, Harvey AS, Rosenfeld JV, Wrennall JA, Bailey CA, Berkovic SF. Generalized epilepsy in hypothalamic hamartoma: evolution and postoperative resolution. Neurology 2003; 60: 762-7. (Pubitemid 36297357)
17. Fukuda M, Kameyama S, Wachi M, Tanaka R. Stereotaxy for hypothal-amic hamartoma with intractable gelastic seizures: technical case report. Neurosurgery 1999; 44: 1347-50. (Pubitemid 29252760)
18. Haines DE, May PJ, Dietrichs E. Neuronal connections between the cere-bellar nuclei and hypothalamus in Macaca fascicularis: cerebello-visceral circuits. J Comp Neurol 1999; 299: 106-22.
19. Harvey AS, Freeman JL. Epilepsy in hypothalamic hamartoma: clinical and EEG features. Semin Pediatr Neurol 2007; 14: 60-4. (Pubitemid 46829939)
20. Heimer L, Van Hoesen GW. The limbic lobe and its output channels: implications for emotional functions and adaptive behavior. Neurosci Biobehav Rev 2006; 30: 126-47. (Pubitemid 41821805)
21. Homma J, Kameyama S, Masuda H, Ueno T, Fujimoto A, Oishi M, et al. Stereotactic radiofrequency thermocoagulation for hypothalamic hamartoma with intractable gelastic seizures. Epilepsy Res 2007; 76: 15-21. (Pubitemid 47238594)
22. Inoue HK, Kanazawa H, Kohga H, Zama A, Ono N, Nakamura M, et al. Hypothalamic hamartoma: anatomic, immunohistochemical and ultra-structural features. Noshuyo byori [Brain Tumor Pathology] 1995; 12: 45-51.
23. Ironside R. Disorders of laughter due to brain lesions. Brain 1956; 79: 589-609.
24. Kahane P, Ryvlin P, Hoffmann D, Minotti L, Benabid AL. From hypo-thalamic hamartoma to cortex: what can be learnt from depth recordings and stimulation? Epileptic Disord 2003; 5: 205-17. (Pubitemid 38209303)
25. Kameyama S, Masuda H, Murakami H. Ictogenesis and symptomatogen-esis of gelastic seizures in hypothalamic hamartomas: An ictal SPECT study. Epilepsia 2010; 51: 2270-9.
26. Kameyama S, Murakami H, Masuda H, Sugiyama I. Minimally invasive magnetic resonance imaging-guided stereotactic radiofrequency ther-mocoagulation for epileptogenic hypothalamic hamartomas. Neurosurgery 2009; 65: 438-49; discussion 449.
27. Karplus JP, Kreidl A. Gehirn und Sympathicus. I. Mitteilung. Zwischenhirn und Halssympathicus. Pflugers Arch ges Physiol 1909; 129: 138-44.
28. Kerrigan JF, Ng YT, Chung S, Rekate HL. The hypothalamic hamartoma: a model of subcortical epileptogenesis and encephalopathy. Semin Pediatr Neurol 2005; 12: 119-31. (Pubitemid 40967990)
29. Kim DY, Fenoglio KA, Kerrigan JF, Rho JM. Bicarbonate contributes to GABAA receptor-mediated neuronal excitation in surgically resected human hypothalamic hamartomas. Epilepsy Res 2009; 83: 89-93.
30. Kim DY, Fenoglio KA, Simeone TA, Coons SW, Wu J, Chang Y, et al. GABAA receptor-mediated activation of L-type calcium channels induces neuronal excitation in surgically resected human hypothalamic hamartomas. Epilepsia 2008; 49: 861-71. (Pubitemid 351652424)
31. Kuzniecky R, Guthrie B, Mountz J, Bebin M, Faught E, Gilliam F, et al. Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy. Ann Neurol 2009; 42: 60-7.
32. Lee JH, Durand R, Gradinaru V, Zhang F, Goshen I, Kim DS, et al. Global and local fMRI signals driven by neurons defined optogenetically by type and wiring. Nature 2010; 465: 788-92.
33. Mahachoklertwattana P, Kaplan SL, Grumbach MM. The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history. J Clinical Endocrinol Metabol 1993; 77: 118-24. (Pubitemid 23206788)
34. Maixner W. Hypothalamic hamartomas-clinical, neuropathological and surgical aspects. Childs Nerv Syst 2006; 22: 867-73. (Pubitemid 44103015)
35. Mazziotta JC, Engel J. Jr. The use and impact of positron computed tomography scanning in epilepsy. Epilepsia 1984; 25 (Suppl 2): S86-104. (Pubitemid 14030747)
36. Meyer MA. Temporal lobe hypometabolism ipsilateral to a hypothalamic mass. Relationship to gelastic seizures. Clin Positron Imaging 2000; 3: 75-7.
37. Munari C, Kahane P, Francione S, Hoffmann D, Tassi L, Cusmai R, et al. Role of the hypothalamic hamartoma in the genesis of gelastic fits (a video-stereo-EEG study). Electroencephal Clin Neurophysiol 1995; 95: 154-60.
38. Mutani R, Agnetti V, Durelli L, Fassio F, Ganga A. Epileptic laughter: electroclinical and cinefilm report of a case. J Neurol 1979; 220: 215-22. (Pubitemid 9135364)
39. Oehl B, Brandt A, Fauser S, Bast T, Trippel M, Schulze-Bonhage A. Semiologic aspects of epileptic seizures in 31 patients with hypothal-amic hamartoma. Epilepsia 2010; 51: 2116-23.
40. Onat F, Cavdar S. Cerebellar connections: hypothalamus. Cerebellum 2003; 2: 263-9. (Pubitemid 38280283)
41. Palmini A, Van Paesschen W, Dupont P, Van Laere K, Van Driel G. Status gelasticus after temporal lobectomy: ictal FDG-PET findings and the question of dual pathology involving hypothalamic hamarto-mas. Epilepsia 2005; 46: 1313-6. (Pubitemid 41647774)
42. Parvizi J, Anderson SW, Martin C, Damasio AR, Damasio H. Pathological laughter and crying: a link to the cerebellum. Brain 2001; 124: 1708-19. (Pubitemid 32845433)
43. Parvizi J, Coburn KL, Shillcutt SD, Coffey CE, Lauterbach EC, Mendez MF. Neuroanatomy of pathological laughing and crying: a report of the American Neuropsychiatric Association Committee on Research. J Neuropsychiatry Clin Neurosci 2009; 21: 75-87.
44. Polkey CE. Resective surgery for hypothalamic hamartoma. Epileptic Disord 2003; 5: 281-6. (Pubitemid 38209312)
45. Prigatano GP, Wethe JV, Gray JA, Wang N, Chung S, Ng YT, et al. Intellectual functioning in presurgical patients with hypothalamic hamartoma and refractory epilepsy. Epilepsy Behav 2008; 13: 149-55.
46. Regis J, Bartolomei F, de Toffol B, Genton P, Kobayashi T, Mori Y, et al. Gamma knife surgery for epilepsy related to hypothalamic hamarto-mas. Neurosurgery 2000; 47: 1343-51; discussion 1351-2.
47. Ryvlin P, Ravier C, Bouvard S, Mauguire F, Le Bars D, Arzimanoglou A, et al. Positron emission tomography in epileptogenic hypothalamic hamartomas. Epileptic Disord 2003; 5: 219-27. (Pubitemid 38209304)
48. Salmenpera TM, Duncan JS. Imaging in epilepsy. J Neurol Neurosurg Psychiatry 2005; 76 (Suppl 3): iii2-10. (Pubitemid 41231950)
49. Saper CB. Role of the cerebral cortex and striatum in emotional motor response. Prog Brain Res 1996; 107: 537-50. (Pubitemid 26401687)
50. Saper CB. Hypothalamus. In: Paximos G, editor. The human nervous system. Elsevier, San Diego: Academic Press; 2003. p. 513-50.
51. Satow T, Usui K, Matsuhashi M, Yamamoto J, Begum T, Shibasaki H, et al. Mirth and laughter arising from human temporal cortex. J Neurol Neurosurgery Psychiatry 2003; 74: 1004-5. (Pubitemid 36783022)
52. Schulze-Bonhage A, Ostertag C. Treatment options for gelastic epilepsy due to hypothalamic hamartoma: interstitial radiosurgery. Semin Pediatric Neurol 2007; 14: 80-7. (Pubitemid 46829942)
53. Shahar E, Goldsher D, Genizi J, Ravid S, Keidar Z. Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamar-toma. J Child Neurol 2008; 23: 235-9.
54. Shin HY, Hong SB, Joo EY, Tae WS, Han SJ, Cho JW, et al. Gelastic seizures involving the right parietal lobe. Epileptic Disord 2006; 8: 209-12. (Pubitemid 44546254)
55. Striano S, Striano P, Coppola A, Romanelli P. The syndrome gelastic seizures-hypothalamic hamartoma: severe, potentially reversible en-cephalopathy. Epilepsia 2009; 50 (Suppl 5): 62-5.
56. Striano S, Striano P, Sarappa C, Boccella P. The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome. Seizure 2005; 14: 232-9. (Pubitemid 40704327)
57. Van Essen DC, Dierker DL. Surface-based and probabilistic atlases of primate cerebral cortex. Neuron 2007; 56: 209-25.
58. Vera P, Kaminska A, Cieuta C, Hollo A, Stievenart JL, Gardin I, et al. Use of subtraction ictal SPECT co-registered to MRI for optimizing the localization of seizure foci in children. J Nuclear Med 1999; 40: 786-92. (Pubitemid 29210753)
59. Wu J, DeChon J, Xue F, Li G, Ellsworth K, Gao M, et al. GABA(A) receptor-mediated excitation in dissociated neurons from human hypothalamic hamartomas. Exp Neurol 2005; 213: 397-404.
60. Wu J, Xu L, Kim DY, Rho JM, St John PA, Lue LF, et al. Electrophysiological properties of human hypothalamic hamartomas. Ann Neurol 2005; 58: 371-82. (Pubitemid 41266623)
61. Zhu JN, Yung WH, Kwok-Chong CB, Chan YS, Wang JJ. The cerebellar-hypothalamic circuits: potential pathways underlying cere-bellar involvement in somatic-visceral integration. Brain Res Rev 2006; 52: 93-106.