New developments in the neurobiology of the tuberous sclerosis complex

Neurology

Volumn 53, Issue 7, 1999, Pages 1384-1390

  Crino, Peter B ^a   Henske, Elizabeth Petri ^b  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b FOX CHASE CANCER CENTER   (United States)

Author keywords

Mutations; Neurobiology; Tuberous sclerosis complex

Indexed keywords

AUTISM; AUTOSOMAL DOMINANT DISORDER; CELL DIFFERENTIATION; CELL MIGRATION; CHROMOSOME 16; ENZYME ACTIVATION; GENE MUTATION; HUMAN; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW; TUBEROUS SCLEROSIS; TUMOR GROWTH;

EID: 0032693614     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.7.1384     Document Type: Review

References (63)

1. Gomez MR. Tuberous sclerosis. New York: Raven Press, 1988.
2. O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 1998;351:1490.
3. Short MP, Richardson EP, Haines J, Kwiatkowski DJ. Clinical, neuropathological, and genetic aspects of the tuberous sclerosis complex. Brain Pathol 1995;5:173-179.
4. Bourneville DM. Contributions a l'etude de l'idiotie. III. Sclerose tuberoeuse des circonvolutions cerebrales. Arch Int Neurol 1880;1:81-91.
5. von Recklinghausen FD. Ein Herz von einen Neurogeborenen. Verb Berl Ges Geburt 1863;15:73.
6. Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L. Diagnostic criteria: tuberous sclerosis complex. J Child Neurol 1992;2:221-224.
7. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624-628.
8. Mlynarczyk G. Enamel pitting: a common symptom of tuberous sclerosis. Oral Surg Oral Med 1991;71:63-67.
9. Consortium ECTS. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-1315.
10. 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.
11. Povey S, Burley M, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 1994;58:107-127.
12. Wilson P, 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.
13. Au K-S, Rodriguez J, Finch J, et al. Germ-line mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients. Am J Hum Genet 1997;62:286-294.
14. Van Bakel I, Sepp T, Ward S, Yates J, Green A. Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Hum Mol Genet 1997;6: 1409-1414.
15. Maheshwar M, Cheadle J, Jones A, et al. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum Mol Genet 1997;6:1991-1996.
16. van Slegtenhorst M, Verhoef S, Tempelaars A, et al. A 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;36:285-289.
17. Jones A, Daniells C, Snell R, et al. Genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 1997;6:2155-2161.
18. Jones AC, Shyamsundar MM, Thomas MW, et al. Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-1315.
19. Verhoef S, Bakker L, Tempelaars A, et al. High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 1999; 64:1632-1637.
20. Richardson EP. Pathology of tuberous sclerosis. Ann NY Acad Sci 1991;615:128-139.
21. Hirose Y, 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.
22. Lopes MBS, Altermatt HJ, Scheithauer BW, Shepard CW, VandenBerg SR. Immunohistochemical characterization of subependymal giant cell astrocytomas. Acta Neuropathol 1996;91:368-375.
23. Wiestler O, Lopez B, Crino PB. Tuberous sclerosis complex and subependymal astrocytoma. In: Kleihues P, Cavenee WK, eds. Pathology and genetics: tumors of the nervous system. Lyon: International Agency for Research on Cancer, 1997: 182-185.
24. Crino PB, Dichter MA, Trojanowski JQ, Eberwine JH. Embryonic neuronal markers in tuberous sclerosis: single cell molecular pathology. Proc Natl Acad Sci USA 1996;93:14152-14157.
25. Sonigo P, Elmaleh A, Fermott L, Delezoide AL, Mirlesse V, Brunelole F. Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis. Pediatr Radiol 1996;26:1-4.
26. Tien RD, Hesselink JR, Duberg A. Rare subependymal giant cell astrocytoma in a neonate with tuberous sclerosis. AJNR Am J Neuroradiol 1990;11:1251-1252.
27. Gyure KA, Prayson RA. Subependymal giant cell astrocytoma: a clinicopathologic study with HMB45 and MIB-1 immunohistochemical analysis. Mod Pathol 1997;10:313-317.
28. Yeung RS, Xiao GH, Jin F, Lee WC, Testa JR, Knudson AG. Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. Proc Natl Acad Sci USA 1994;91:11413-11416.
29. Yeung RS, Katsetos CD, Klein-Szanto A. Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. Am J Pathol 1997;151:1477-1486.
30. van Slegtenhorst M, Nellist M, Nagelkerken B, et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998;7:1053-1057.
31. Geist R, Gutmann D. The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. Cell Growth Differentiation 1995;6:1477-1483.
32. Geist RT, Reddy AJ, Zhang J, Gutmann DH. Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues. Neurobiol Dis 1996;3:111-120.
33. Wienecke R, Maize J, Reed J, deGunzburg J, Yeung R, DeClue J. Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues. Am J Pathol 1997;150:43-50.
34. Kerfoot C, Wienecke R, Menchine M, et al. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesion of patients with tuberous sclerosis. Brain Pathol 1996;6:367-377.
35. Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S. Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Ann Neurol 1996;40:941-944.
36. Plank TL, Yeung RS, Henske EP. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res 1998;58:4766-4770.
37. Wienecke R, Konig A, DeClue J. Identification of tuberin, the tuberous sclerosis-2 product. J Biol Chem 1995;270:16409-16414.
38. Wienecke R, Maize J, Shoarinejad F, et al. Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus. Oncogene 1996;13:913-923.
39. Soucek T, Pusch O, Wienecke R, DeClue J, Hengstschlager M. Role of the tuberous sclerosis gene-2 product in cell cycle control. J Biol Chem 1997;272:29301-29308.
40. Soucek T, Holzl G, Bernaschek G, Hengstschlager M. A role of the tuberous sclerosis gene-2 product during neuronal differentiation. Oncogene 1998;16:2197-2204.
41. Xiao G, Shoarinejad F, Jin F, Golemis E, Yeung R. The tuberous sclerosis-2 gene product, tuberin, functions as a Rab5 GAP in modulating endocytosis. J Biol Chem 1997;272:6097-6100.
42. Henry KW, Yuan X, Koszewski NJ, Onda H, Kwiatkowski DJ, Noonan DJ. Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members. J Biol Chem 1998;273:20535-20539.
43. Jin F, Wienecke R, Xiao G-H, Maize J, DeClue J, Yeung R. Suppression of tumorigenicity by the wild type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. Proc Natl Acad Sci USA 1996;93:9154-9159.
44. Henske E, Neumann H, Scheithauer B, Herbst E, Short M, Kwiatkowski D. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chrom Cancer 1995;13:295-298.
45. Carbonara C, Longa L, Grosso E, et al. 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 1994;3:1829-1832.
46. Green A, Smith M, Yates J. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994;6:193-196.
47. Henske E, Scheithauer B, Short M, et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996;59:400-406.
48. Henske E, Wessner L, Golden J, et al. Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol 1997;151:1639-1647.
49. Normann S, Green AJ, von Bakel I, et al. Tuberous sclerosislike lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions. Acta Neuropathol (Berl) 1997; 93:93-96.
50. Reid CB, Liang I, Walsh C. Systematic widespread clonal organization in cerebral cortex. Neuron 1995;15:299-310.
51. Walsh C, Cepko CL. Clonal dispersion in proliferative layers of developing cerebral cortex. Nature 1993;15:299-310.
52. Padmalatha C, Harruff R, Ganick D, Hafez G. Glioblastoma multiforme with tuberous sclerosis. Report of a case. Arch Pathol Lab Med 1980;104:649-650.
53. Gutmann D, Saporito-Irwin S, DeClue J, Wienecke R, Guha A. Alterations in the Rap1 signaling pathway are common in human gliomas. Oncogene 1997;15:1611-1616.
54. Wienecke R, Guha A, Maize J, Heideman R, DeClue J, Gutmann D. Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas. Ann Neurol 1997;42:230-235.
55. Park SH, Pepkowitz SH, Kerfoot C, et al. Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol (Berl) 1997;94:180-186.
56. Van Raay TJ, Foskett SM, Connors TD, Klinger ICW, Landes GM, Burn TC. The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3. Genomics 1997;41:279-282.
57. Yamanouchi H, Jay V, Rutka JT, Takashima S, Becker LE. Evidence of abnormal differentiation in giant cells of tuberous sclerosis. Pediatr Neurol 1997;17:49-53.
58. Trombley IK, Mirra SS. Ultrastructure of tuberous sclerosis: cortical tuber and subependymal tumor. Ann Neurol 1981;9: 174-181.
59. Huttenlocher PR, Wollman RL. Cellular neuropathology of tuberous sclerosis. Ann NY Acad Sci 1991;615:140-148.
60. Huttenlocher PR, Heydemann PT. Fine structure of cortical tubers in tuberous sclerosis. Ann Neurol 1984;16:595-602.
61. Lippa CF, Pearson D, Smith TW. Cortical tubers demonstrate reduced immunoreactivity for synapsin I. Acta Neuropathol 1993;85:449-451.
62. Naus CC, Bechberger JF, Paul DL. Gap junction gene expression in human seizure disorder. Exp Neurol 1991;111:198-203.
63. Wolf HK, Birkholz T, Wellmer J, Blumcke I, Pietsch T, Wiestler OD. Neurochemical profile of glioneuronal lesions from patients with pharmacoresistant focal epilepsies. J Neuropathol Exp Neurol 1995;54:689-697.