Everolimus alters white matter diffusion in tuberous sclerosis complex

Neurology

Volumn 78, Issue 8, 2012, Pages 526-531

  Tillema, Jan Mendelt ^a   Leach, James L ^a   Krueger, Darcy A ^a   Franz, David Neal ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EVEROLIMUS;

ADOLESCENT; ARTICLE; ASTROCYTOMA; CALCARINE SULCUS; CAPSULA INTERNA; CELL VOLUME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; DATA ANALYSIS; DIFFUSION TENSOR IMAGING; DRUG DIFFUSION; DRUG DOSE TITRATION; DRUG TOLERABILITY; FEMALE; FRACTIONAL ANISOTROPY; GIANT CELL TUMOR; HUMAN; MALE; PHASE 1 CLINICAL TRIAL; PHASE 2 CLINICAL TRIAL; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SUBEPENDYMOMA; TUBEROUS SCLEROSIS; UNITED STATES; WHITE MATTER;

EID: 84858136146     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318247ca8d     Document Type: Article

References (32)

1. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med 2006;355:1345-1356.
2. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657-668.
3. 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)
4. Consortium ECTS. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75:1305-1315.
5. Inoki K, Guan KL. Complexity of the TOR signaling network. Trends Cell Biol 2006;16:206-212.
6. Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci 2005;8:1727-1734. (Pubitemid 41683201)
7. Crino PB. Molecular pathogenesis of tuber formation in tuberous sclerosis complex. J Child Neurol 2004;19:716-725. (Pubitemid 39530082)
8. Karadag D, Mentzel HJ, Gullmar D, et al. Diffusion tensor imaging in children and adolescents with tuberous sclerosis. Pediatr Radiol 2005;35:980-983. (Pubitemid 41403487)
9. Chandra PS, Salamon N, Huang J, et al. FDG-PET/MRI coregistration and diffusion-tensor imaging distinguish epileptogenic tubers and cortex in patients with tuberous sclerosis complex: a preliminary report. Epilepsia 2006;47:1543-1549. (Pubitemid 44393868)
10. Widjaja E, Simao G, Mahmoodabadi SZ, et al. Diffusion tensor imaging identifies changes in normal-appearing white matter within the epileptogenic zone in tuberous sclerosis complex. Epilepsy Res 2010;89:246-253.
11. Simao G, Raybaud C, Chuang S, Go C, Snead OC, Widjaja E. Diffusion tensor imaging of commissural and projection white matter in tuberous sclerosis complex and correlation with tuber load. AJNR Am J Neuroradiol 2010;31:1273-1277.
12. Krishnan ML, Commowick O, Jeste SS, et al. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol 2010;42:101-106.
13. Makki MI, Chugani DC, Janisse J, Chugani HT. Characteristics of abnormal diffusivity in normal-appearing white matter investigated with diffusion tensor MR imaging in tuberous sclerosis complex. AJNR Am J Neuroradiol 2007;28:1662-1667. (Pubitemid 47598136)
14. Meikle L, Pollizzi K, Egnor A, et al. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci 2008;28:5422-5432.
15. Meikle L, Talos DM, Onda H, et al. A mouse model of tuberous sclerosis: neuronal loss of Tsc1 causes dysplastic and ectopic neurons, reduced myelination, seizure activity, and limited survival. J Neurosci 2007;27:5546-5558. (Pubitemid 350021088)
16. Ridler K, Suckling J, Higgins NJ, et al. Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cereb Cortex 2007;17:261-271. (Pubitemid 46052765)
17. DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 2004;19:650-657.
18. Franz D, Krueger D, Care M, et al. Everolimus for sub-ependymal giant-cell astrocytomas (SEGAs) in tuberous sclerosis (TS). J Clin Oncol 2010;28:2004.
19. Krueger DA, Care MM, Holland K, et al. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 2010;363:1801-1811.
20. Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006;59:490-498. (Pubitemid 43358069)
21. Koenig MK, Butler IJ, Northrup H. Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol 2008;23:1238-1239.
22. Lam C, Bouffet E, Tabori U, Mabbott D, Taylor M, Bartels U. Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors. Pediatr Blood Cancer 2010;54:476-479.
23. Hofbauer GF, Marcollo-Pini A, Corsenca A, et al. The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol 2008;159:473-475. (Pubitemid 352009863)
24. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624-628. (Pubitemid 29035481)
25. Jiang H, van Zijl PC, Kim J, Pearlson GD, Mori S. DtiStudio: resource program for diffusion tensor computation and fiber bundle tracking. Comput Methods Programs Biomed 2006;81:106-116. (Pubitemid 43144442)
26. Woods RP, Grafton ST, Holmes CJ, Cherry SR, Mazziotta JC. Automated image registration: I: general methods and intrasubject, intramodality validation. J Comput Assist Tomogr 1998;22:139-152. (Pubitemid 28087337)
27. Pierpaoli C, Jezzard P, Basser PJ, Barnett A, Di Chiro G. Diffusion tensor MR imaging of the human brain. Radiology 1996;201:637-648.
28. Arseni C, Alexianu M, Horvat L, Alexianu D, Petrovici A. Fine structure of atypical cells in tuberous sclerosis. Acta Neuropathol 1972;21:185-193.
29. Boer K, Troost D, Jansen F, et al. Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex. Neuropathology 2008;28:577-590.
30. Ridler K, Bullmore ET, De Vries PJ, et al. Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis. Psychol Med 2001;31:1437-1446. (Pubitemid 33040367)
31. Nishimura M, Takashima S, Takeshita K, Tanaka J. Immunocytochemical studies on a fetal brain of tuberous sclerosis. Pediatr Neurol 1985;1:245-248. (Pubitemid 17031234)
32. Park SH, Pepkowitz SH, Kerfoot C, et al. Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study. Acta Neuropathol 1997;94:180-186. (Pubitemid 27338507)