Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells

Journal of Neuropathology and Experimental Neurology

Volumn 64, Issue 7, 2005, Pages 629-637

  Majores, Michael ^a   Blümcke, Ingmar ^b   Urbach, Horst ^a   Meroni, Alessandra ^c   Hans, Volkmar ^d   Holthausen, Hans ^e   Elger, Christian E ^a   Schramm, Johannes ^a   Galli, Carlo ^d   Spreafico, Roberto ^c   Wiestler, Otmar D ^d   Becker, Albert J ^a,f  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d Department of Neuropathology ^*

^e Neuropediatric Department   (Germany)

^f UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

Epilepsy; Focal cortical dysplasia; Glio neuronal lesion; Neoplastic transformation; Tuberous sclerosis

Indexed keywords

ALLELISM; ARTICLE; AUTOSOMAL INHERITANCE; BRAIN MALFORMATION; CONTROLLED STUDY; EPILEPSY; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRON; NUCLEOTIDE SEQUENCE; PHAKOMATOSIS; PRIORITY JOURNAL; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; WHITE MATTER;

EID: 22244447062     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.jnen.0000171651.32460.19     Document Type: Article

References (46)

1. Urbach H, Hattingen J, von Oertzen J, et al. MR imaging in the presurgical workup of patients with drug-resistant epilepsy. AJNR Am J Neuroradiol 2004;25:919-26
2. Palmini A, Najm I, Avanzini G, et al. Terminology and classification of the cortical dysplasias. Neurology 2004;62:2-8
3. Tassi L, Colombo N, Garbelli R, et al. Focal cortical dysplasia: Neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 2002;125:1719-32
4. Mischel PS, Nguyen LP, Vinters HV. Cerebral cortical dysplasia associated with pediatric epilepsy. Review of neuropathologic features and proposal for a grading system. J Neuropathol Exp Neurol 1995;54:137-53
5. Barkovich AJ, Raybaud CA. Malformations of cortical development. Neuroimaging Clin N Am 2004;14:401-23
6. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development: Update 2001. Neurology 2001;57:2168-78
7. Blümcke I, Wiestler OD. Gangliogliomas: An intriguing tumor entity associated with focal epilepsies. J Neuropathol Exp Neurol 2002;61:575-84
8. Urbach H, Scheffler B, Heinrichsmeier T, et al. Focal cortical dysplasia of Taylor's balloon cell type: A clinicopathological entity with characteristic neuroimaging and histopathological features, and favorable postsurgical outcome. Epilepsia 2002;43:33-40
9. Blümcke I, Löbach M, Wolf HK, Wiestler OD. Evidence for developmental precursor lesions in epilepsy-associated glioneuronal tumors. Microsc Res Tech 1999;46:53-58
10. Colombo N, Citterio A, Galli C, et al. Neuroimaging of focal cortical dysplasia: Neuropathological correlations. Epileptic Disord 2003;5:67-72
11. Schwartzkroin PA, Walsh CA. Cortical malformations and epilepsy. Ment Retard Dev Disabil Res Rev 2000;6:268-80
12. Golden JA. Cell migration and cerebral cortical development. Neuropathol Appl Neurobiol 2001;27:22-8
13. Bentivoglio M, Tassi L, Pech E, et al. Cortical development and focal cortical dysplasia. Epileptic Disord 2003;5:27-34
14. Crino PB. Bourneville and Taylor: A developing story? Ann Neurol 2002;52:6-8
15. Baybis M, Yu J, Lee A, et al. mTOR cascade activation distinguishes tubers from focal cortical dysplasia. Ann Neurol 2004;56:478-87
16. Miyata H, Chiang AC, Vinters HV. Insulin signaling pathways in cortical dysplasia and TSC-tubers: Tissue microarray analysis. Ann Neurol 2004; 56:510-19
17. 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: 29-37
18. van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277: 805-8
19. van Slegtenhorst M, Nellist M, Nagelkerken B, et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998;7:1053-57
20. Povey S, Burley MW, Attwood J, et al. Two loci for tuberous sclerosis: One on 9q34 and one on 16p13. Ann Hum Genet 1994;58:107-27
21. The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15
22. Crino PB, Henske EP. New developments in the neurobiology of the tuberous sclerosis complex. Neurology 1999;53:1384-90
23. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol 1998;13:624-28
24. 2+ pathways. Oncogene 1999;18:7860-72
25. Kwiatkowski DJ. Tuberous sclerosis: From tubers to mTOR. Ann Hum Genet 2003;67:87-96
26. Becker AJ, Löbach M, Klein H, et al. Mutational analysis of TSC1 and TSC2 genes in gangliogliomas. Neuropathol Appl Neurobiol 2001;27:105-14
27. Platten M, Meyer Puttlitz B, Blümcke I, et al. A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. J Neuropathol Exp Neurol 1997;56:806-10
28. Blümcke I, Giencke K, Wardelmann E, et al. The CD34 epitope is expressed in neoplastic and malformative lesions associated with chronic, focal epilepsies. Acta Neuropathol 1999;97:481-90
29. Fassunke J, Majores M, Ullmann C, et al. In situ-RT and immunolaser microdissection for mRNA analysis of individual cells isolated from epilepsy-associated glioneuronal tumors. Lab Invest 2004;84: 1520-25
30. Rojiani AM, Emery JA, Anderson KJ, Massey JK. Distribution of heterotopic neurons in normal hemispheric white matter: A morphometric analysis. J Neuropathol Exp Neurol 1996;55:178-83
31. Emery JA, Roper SN, Rojiani AM. White matter neuronal heterotopia in temporal lobe epilepsy: A morphometric and immunohistochemical study. J Neuropathol Exp Neurol 1997;56:1276-82
32. Hildebrandt M, Pieper T, Winkler P, et al. Neuropathological spectrum of cortical dysplasias in children with severe focal epilepsies. Acta Neuropathol 2005: in press
33. Kral T, Clusmann H, Blumcke I, et al. Outcome of epilepsy surgery in focal cortical dysplasia. J Neurol Neurosurg Psychiatry 2003;74:183-88
34. Elger CE. Epilepsy: Disease and model to study human brain function. Brain Pathol 2002;12:193-98
35. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989
36. Bender B, Wiestler OD, von Deimling A. A device for processing large acrylamide gels. Biotechniques 1994;16:204-6
37. Schütze K, Lahr G. Identification of expressed genes by laser-mediated manipulation of single cells. Nat Biotechnol 1998;16:737-72
38. Jones AC, Daniells CE, Snell RG, et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 1997;6:2155-61
39. van Slegtenhorst M, Verhoef S, Tempelaars A, et al. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for genotype-phenotype correlation. J Med Genet 1999;36: 285-89
40. Beauchamp RL, Banwell A, McNamara P, et al. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat 1998;12:408-16
41. van Bakel I, Sepp T, Ward S, Yates JR, Green AJ. Mutations in the TSC2 gene: Analysis of the complete coding sequence using the protein truncation test (PTT). Hum Mol Genet 1997;6:1409-14
42. Fassunke J, Blumcke I, Lahl R, et al. Analysis of chromosomal instability in focal cortical dysplasia of Taylors balloon cell type. Acta Neuropathol 2004;108:129-34
43. Boland CR, Thibodeau SN, Hamilton SR, et al. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998;58:5248-57
44. Manning BD, Cantley LC. Rheb fills a GAP between TSC and TOR. Trends Biochem Sci 2003;28:573-76
45. Hattingen E, Hattingen J, Clusmann H, et al. Planar brain surface reformations for localization of cortical brain lesions. Zentralbl Neurochir 2004; 65:75-80
46. Urbach H, Perez-Bouza A, von Oertzen J. Focal polymicrogyria: Planar-surface MRI. Neurology 2004;62:1227