Neuropathology of refractory epilepsy: the structural basis and mechanisms of epileptogenesis

Česká verze

Authors: J. Zámečník
Authors place of work: Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol, Praha
Published in the journal: Čes.-slov. Patol., 48, 2012, No. 2, p. 76-82
Category: Přehledové články – Neuropatologie

Summary

In recent years, the expansion of surgical treatment of patients with refractory epilepsy brought unique opportunity to analyse resected epileptic brain tissue and to define the morphological and molecular basis of this heterogeneous disease. The most common clinicopathological entities identified in epilepsy surgical brain specimens are hippocampal sclerosis, malformations of cortical development, glioneuronal tumors, vascular malformations, glial scarring or inflammation. In addition to the diagnostics and classification of the lesions, the text provides a summary of current knowledge about the pathogenesis and mechanisms, by which they contribute to the genesis and spread of epilepsy.

Keywords:
epilepsy - hippocampal sclerosis - focal cortical dysplasia - epileptogenesis

Zdroje

1. Elger CE. Epilepsy: disease and model to study human brain function. Brain Pathol 2002; 12(2): 193-198.

2. Blümcke I. Neuropathology of focal epilepsies: a critical review. Epilepsy Behav 2009; 15(1): 34-39.

3. Blümcke I, Thom M, Wiestler OD. Ammon’s horn sclerosis: a maldevelopmental disorder associated with temporal lobe epilepsy. Brain Pathol 2002; 12(2): 199-211.

4. Zámečník J, Kršek P, Marusič P et al. Mikroskopické poruchy kortikálního vývoje mozku a etiopatogenetický význam jejich detekce u pacientů s temporální epilepsií při skleróze hipokampu. Cesk Patol 2003; 39(4): 178-184.

5. Thom M, Zhou J, Martinian L, Sisodiya S. Quantitative post-mortem study of the hippocampus in chronic epilepsy: seizures do not inevitably cause neuronal loss. Brain 2005; 128(Pt 6): 1344-1357.

6. Marusič P, Tomášek M, Kršek P et al. Clinical characteristics in patients with hippocampal sclerosis with or without cortical dysplasia. Epileptic Disord 2007; 9(Suppl 1): S75-S82.

7. Blümcke I, Suter B, Behle K et al. Loss of hilar mossy cells in Ammon’s horn sclerosis. Epilepsia 2000; 41 Suppl 6(S174-S180.

8. de Lanerolle NC, Kim JH, Williamson A et al. A retrospective analysis of hippocampal pathology in human temporal lobe epilepsy: evidence for distinctive patient subcategories. Epilepsia 2003; 44(5): 677-687.

9. Houser CR. Granule cell dispersion in the dentate gyrus of humans with temporal lobe epilepsy. Brain Res 1990; 535(2): 195-204.

10. Blümcke I, Kistner I, Clusmann H et al. Towards a clinico-pathological classification of granule cell dispersion in human mesial temporal lobe epilepsies. Acta Neuropathol 2009; 117(5): 535-544.

11. Sutula T, Cascino G, Cavazos J, Parada I, Ramirez L. Mossy fiber synaptic reorganization in the epileptic human temporal lobe. Ann Neurol 1989; 26(3): 321-330.

12. Becker AJ, Chen J, Zien A et al. Correlated stage- and subfield-associated hippocampal gene expression patterns in experimental and human temporal lobe epilepsy. Eur J Neurosci 2003; 18(10): 2792-2802.

13. Blümcke I, Pauli E, Clusmann H et al. A new clinico-pathological classification system for mesial temporal sclerosis. Acta Neuropathol 2007; 113(3): 235-244.

14. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology 2005; 65(12): 1873-1887.

15. Palmini A, Najm I, Avanzini G et al. Terminology and classification of the cortical dysplasias. Neurology 2004; 62(Suppl 3): S2-S8.

16. Kršek P, Pieper T, Karlmeier A et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia 2009; 50(1): 125-137.

17. Blümcke I, Vinters HV, Armstrong D et al. Malformations of cortical development and epilepsies: neuropathological findings with emphasis on focal cortical dysplasia. Epileptic Disord 2009; 11(3): 181-193.

18. Lerner JT, Salamon N, Hauptman JS et al. Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: a critical review and the UCLA experience. Epilepsia 2009; 50(6): 1310-1335.

19. Blümcke I, Spreafico R. An international consensus classification for focal cortical dysplasias. Lancet Neurol 2011; 10(1): 26-27.

20. Blümcke I, Thom M, Aronica E et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011; 52(1): 158-174.

21. Chamberlain WA, Cohen ML, Gyure KA et al. Interobserver and intraobserver reproducibility in focal cortical dysplasia (malformations of cortical development). Epilepsia 2009; 50(12): 2593-2598.

22. Tassi L, Garbelli R, Colombo N et al. Type I focal cortical dysplasia: surgical outcome is related to histopathology. Epileptic Disord 2010; 12(3): 181-191.

23. Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis 2010; 38(2): 154-166.

24. Becker AJ, Urbach H, Scheffler B et al. Focal cortical dysplasia of Taylor’s balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 2002; 52(1): 29-37.

25. Ying Z, Gonzalez-Martinez J, Tilelli C, Bingaman W, Najm I. Expression of neural stem cell surface marker CD133 in balloon cells of human focal cortical dysplasia. Epilepsia 2005; 46(11): 1716-1723.

26. Najm IM, Tilelli CQ, Oghlakian R. Pathophysiological mechanisms of focal cortical dysplasia: a critical review of human tissue studies and animal models. Epilepsia 2007; 48 Suppl 2(21-32.

27. Lamparello P, Baybis M, Pollard J et al. Developmental lineage of cell types in cortical dysplasia with balloon cells. Brain 2007; 130(Pt 9): 2267-2276.

28. Aronica E, Gorter JA, Jansen GH et al. Expression and cell distribution of group I and group II metabotropic glutamate receptor subtypes in taylor-type focal cortical dysplasia. Epilepsia 2003; 44(6): 785-795.

29. Wong M. Mechanisms of epileptogenesis in tuberous sclerosis complex and related malformations of cortical development with abnormal glioneuronal proliferation. Epilepsia 2008; 49(1): 8-21.

30. Zámečník J, Kršek P, Druga R et al. Densities of parvalbumin-immunoreactive neurons in non-malformed hippocampal sclerosis-temporal neocortex and in cortical dysplasias. Brain Res Bull 2006; 68(6): 474-481.

31. Barinka F, Druga R, Marusič P, Kršek P, Zámečník J. Calretinin immunoreactivity in focal cortical dysplasias and in non-malformed epileptic cortex. Epilepsy Res 2010; 88(1): 76-86.

32. Vargová L, Homola A, Cicanic M et al. The diffusion parameters of the extracellular space are altered in focal cortical dysplasias. Neurosci Lett 2011; 499(1): 19-23.

33. Vizi ES, Kiss JP, Lendvai B. Nonsynaptic communication in the central nervous system. Neurochem Int 2004; 45(4): 443-451.

34. Zámečník J, Homola A, Cicanic M et al. Extracellular matrix and diffusion barriers in focal cortical dysplasias. Eur J Neurosci 2012, in press.

35. Jozwiak J, Jozwiak S, Wlodarski P. Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol 2008; 9(1): 73-79.

36. Mizuguchi M, Takashima S. Neuropathology of tuberous sclerosis. Brain Dev 2001; 23(7): 508-515.

37. Blümcke I, Wiestler OD. Gangliogliomas: an intriguing tumor entity associated with focal epilepsies. J Neuropathol Exp Neurol 2002; 61(7): 575-584.

38. Hoischen A, Ehrler M, Fassunke J et al. Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH. Brain Pathol 2008; 18(3): 326-337.

39. Fassunke J, Majores M, Tresch A et al. Array analysis of epilepsy-associated gangliogliomas reveals expression patterns related to aberrant development of neuronal precursors. Brain 2008; 131(Pt 11): 3034-3050.

40. Aronica E, Yankaya B, Jansen GH et al. Ionotropic and metabotropic glutamate receptor protein expression in glioneuronal tumours from patients with intractable epilepsy. Neuropathol Appl Neurobiol 2001; 27(3): 223-237.

41. Ferrier CH, Aronica E, Leijten FS et al. Electrocorticographic discharge patterns in glioneuronal tumors and focal cortical dysplasia. Epilepsia 2006; 47(9): 1477-1486.

42. Aronica E, Redeker S, Boer K et al. Inhibitory networks in epilepsy-associated gangliogliomas and in the perilesional epileptic cortex. Epilepsy Res 2007; 74(1): 33-44.