Increased frequency of distinct TSC2 allelic variants in focal cortical dysplasias with balloon cells and mineralization: Original Article

Neuropathology

Volumn 29, Issue 5, 2009, Pages 559-565

  Schönberger, Anna ^a   Niehusmann, Pitt ^a,b   Urbach, Horst ^b   Majores, Michael ^a,b   Grote, Alexander ^b   Holthausen, Hans ^c   Blümcke, Ingmar ^d   Deckert, Martina ^e   Becker, Albert J ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c Children Epilepsy Center   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

Calcification; Cortical malformation; Epilepsy; FCD; TSC

Indexed keywords

PROTEIN TSC1; TUBERIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORTICAL DYSPLASIA; EPILEPSY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; HUMAN; MALE; MINERALIZATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD;

ADOLESCENT; ALLELES; BRAIN; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; EPILEPSY; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; POLYMORPHISM, GENETIC; PROGNOSIS; SEIZURES; TREATMENT OUTCOME; TUMOR SUPPRESSOR PROTEINS;

EID: 70349322773     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/j.1440-1789.2009.01018.x     Document Type: Article

References (31)

1. Palmini A, Najm I, Avanzini G et al. Terminology and classification of the cortical dysplasias. Neurology 2004 62 : S2 8.
2. Krsek P, Maton B, Korman B et al. Different features of histopathological subtypes of pediatric focal cortical dysplasia. Ann Neurol 2008 63 : 758 769.
3. Baybis M, Yu J, Lee A et al. mTOR cascade activation distinguishes tubers from focal cortical dysplasia. Ann Neurol 2004 56 : 478 487.
4. Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci 2008 31 : 154 162.
5. Widdess-Walsh P, Diehl B, Najm I. Neuroimaging of focal cortical dysplasia. J Neuroimag 2006 16 : 185 196.
6. 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.
7. Taylor DC, Falconer MA, Bruton CJ, Corsellis JA. Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 1971 34 : 369 387.
8. van Slegtenhorst M, de Hoogt R, Hermans C et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997 277 : 805 808. (Pubitemid 27366729)
9. The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993 75 : 1305 1315.
10. 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.
11. Kral T, Clusmann H, Urbach H et al. Preoperative evaluation or epilepsy surgery (Bonn Algorithm). Zentralbl Neurochir 2002 63 : 106 110.
12. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998 13 : 624 628.
13. Schick V, Majores M, Engels G et al. Differential Pi3K-pathway activation in cortical tubers and focal cortical dysplasias with balloon cells. Brain Pathol 2007 17 : 165 173.
14. Tassi L, Colombo N, Garbelli R et al. Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. Brain 2002 125 : 1719 1732.
15. Becker AJ, Lobach M, Klein H et al. Mutational analysis of TSC1 and TSC2 genes in gangliogliomas. Neuropathol Appl Neurobiol 2001 27 : 105 114.
16. Engel J Jr. Update on surgical treatment of the epilepsies. Summary of the Second International Palm Desert Conference on the Surgical Treatment of the Epilepsies (1992). Neurology 1993 43 : 1612 1617.
17. 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 2161.
18. Wilson PJ, Ramesh V, Kristiansen A et al. Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 1996 5 : 249 256.
19. Wilms G, Van Wijck E, Demaerel P, Smet MH, Plets C, Brucher JM. Gyriform calcifications in tuberous sclerosis simulating the appearance of Sturge-Weber disease. AJNR Am J Neuroradiol 1992 13 : 295 297.
20. Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J. Sturge-Weber syndrome. Study of 55 patients. Can J Neurol Sci 2008 35 : 301 307.
21. Jay V, Edwards V, Musharbash A, Rutka JT. Cerebellar pathology in tuberous sclerosis. Ultrastruct Pathol 1998 22 : 331 339.
22. Becker AJ, Figarella-Branger D, Wiestler OD, Blümcke I. Ganglioglioma and Gangliocytoma. In : Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, eds. WHO Classification of Tumours of the Central Nervous System. Lyon : IARC, 2007 103 105.
23. Majores M, Blümcke I, Urbach H et al. Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells. J Neuropathol Exp Neurol 2005 64 : 629 637.
24. Rok P, Kasprzyk-Obara J, Domanska-Pakiela D, Jozwiak S. Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. Med Sci Monit 2005 11 : CR230 CR234.
25. Xiao GH, Shoarinejad F, Jin F, Golemis EA, Yeung RS. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J Biol Chem 1997 272 : 6097 6100.
26. Noonan DJ, Lou D, Griffith N, Vanaman TC. A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis. Arch Biochem Biophys 2002 398 : 132 140.
27. Tamaru M, Yoneda Y, Ogita K, Shimizu J, Matsutani T, Nagata Y. Excitatory amino acid receptors in brains of rats with methylazoxymethanol-induced microencephaly. Neurosci Res 1992 14 : 13 25.
28. Rodriguez MJ, Bernal F, Andres N, Malpesa Y, Mahy N. Excitatory amino acids and neurodegeneration: a hypothetical role of calcium precipitation. Int J Dev Neurosci 2000 18 : 299 307.
29. Boer K, Jansen F, Nellist M et al. Inflammatory processes in cortical tubers and subependymal giant cell tumors of tuberous sclerosis complex. Epilepsy Res 2008 78 : 7 21.
30. Petegnief V, Saura J, Dewar D, Cummins DJ, Dragunow M, Mahy N. Long-term effects of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate and 6-nitro-7-sulphamoylbenzo(f)quinoxaline-2,3-dione in the rat basal ganglia: calcification, changes in glutamate receptors and glial reactions. Neuroscience 1999 94 : 105 115.
31. Wolf HK, Birkholz T, Wellmer J, Blümcke I, Pietsch T, Wiestler OD. Neurochemical profile of glioneuronal lesions from patients with pharmacoresistant focal epilepsies. J Neuropathol Exp Neurol 1995 54 : 689 697.