Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex

Neurology

Volumn 72, Issue 13, 2009, Pages 1165-1169

  Chu Shore, Catherine J ^b   Major, Philippe ^a,c   Montenegro, Maria ^b   Thiele, Elizabeth ^a,b  

^a Carol and James Herscot Center for Tuberous Sclerosis Complex   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; DISEASE ASSOCIATION; EPILEPSY; EPILEPTIC FOCUS; FEMALE; GENE; GENE MUTATION; GENOTYPE; HAMARTOMA; HUMAN; INFANT; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; TSC 1 GENE; TSC 2 GENE; TUBEROUS SCLEROSIS; BRAIN CORTEX; COMPARATIVE STUDY; CYST; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY;

TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; AGED; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CYSTS; EPILEPSY; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; RETROSPECTIVE STUDIES; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 65249116322     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000345365.92821.86     Document Type: Article

References (28)

1. Crino PB, Nathanson KL, Petri Henske E. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-1356 Thiele EA. Managing epilepsy in tuberous sclerosis complex J Child Neurol 2004;19:680-686.
2. Sancak O, Nellist M, Goedbloed M, et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 2005;13:731-741.
3. Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80.
4. Crino PB. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol 2004;19:716-725.
5. Sosunov AA, Wu X, Mikell CB, et al. Tuberous sclerosis: a primary pathology of astrocytes? Epilepsia 2008;49 (Suppl 2):53-62.
6. Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol 2004;19:680-686.
7. Webb DW, Fryer AE, Osborned JP. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996;38:146-155.
8. Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR. Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol 1997;12:85-90.
9. Shepherd CW, Houser OW, Gomez MR. MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment. Am J Neurorad 1995; 16:149-155.
10. Husain AM, Foley CM, Legido A, Chandler DA, Miles DK, Grover WD. Tuberous sclerosis complex and epilepsy: prognostic significance of electroencephalography and magnetic resonance imaging. J Child Neurol 2000;15: 81-83.
11. Doherty C, Goh S, Poussaint TY, Erdag N, Thiele EA. Prognostic significance of tuber count and location in tuberous sclerosis complex. J Child Neurol 2005;20:837-841.
12. Hamano S, Tanaka M, Imai M, et al. Topography, size, and number of cortical tubers in tuberous sclerosis with West Syndrome. Brain Dev 1998;30:152-158.
13. Jarrar RG, Buchhalter JR, Raffel C. Long-term outcome of epilepsy surgery in patients with tuberous sclerosis. Neurology 2004;62:479-481.
14. Jansen FE, van Huffelen AC, Algra A, van Neiwuwenhuizen O. Epilepsy surgery in tuberous sclerosis: a systematic review. Epilepsia 2007;48:1477-1484.
15. Bollo RJ, Kalhorn SP, Carlson C, Haegeli V, Devinksy O, Weiner H. Epilepsy surgery and tuberous sclerosis complex: special considerations. Neurosurg Focus 2008;25:1-13.
16. Jurkiewicz E, Jozwiak S, Bekiesinksa-Figatowska M, Pakula-Kosciesza I, Walecki J. Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence. Pediatr Radiol 2006;36:498-501.
17. Braffman BH, Bilaniuk LT, Naidich TP, et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology 1992;183:227-238.
18. Rott HD, Lemcke B, Zenker M, Huk W, Horst J, Mayer K. Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet 2002;111:435-439.
19. Hirose T, Scheithauer BW, Lopes MBS, et al. Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron microscopic study. Acta Neuropathol 1995;90:387-399.
20. Talos DM, Kwiatkowski DJ, Cordero K, Black PM, Jensen FE. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Ann Neurol 2008;63:454-465.
21. Bebin EM, Kelly PJ, Gomez MR. Surgical treatment for epilepsy in cerebral tuberous sclerosis. Epilepsia 1993;34: 651-657.
22. Avellino AM, Berger MS, Rostomily RC, Shaw SM, Ojemann GA. Surgical management and seizure outcome in patients with tuberous sclerosis. J Neurosurg 1997;87: 391-396.
23. Guerrerio MM, Andermann F, Andermann E, et al. Surgical treatment of epilepsy in tuberous sclerosis: strategies and results in 18 patients. Neurology 1998; 51:1263-1269.
24. Jansen FE, Vinken KL, Algra A, et al. Cognitive impairment in tuberous sclerosis complex is a multifactorial condition. Neurology 2008;70:916-923.
25. Van Tassel P, Cure JK, Holden KR. Cyst-like white matter lesions in tuberous sclerosis. Am J Neuroradiol 1997;18: 1367-1373.
26. Strizhera GD, Carsillo T, Kruger WD, et al. The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis. Am J Respir Crit Care Med 2001;163:253-258.
27. Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 2007;9:88-100.
28. Jansen FE, Braams O, Vincken KL, et al. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations. Neurology 2008;70:908-915.