Developmental changes in cerebral white matter microstructure in a disorder of lysosomal storage

Cortex

Volumn 46, Issue 2, 2010, Pages 206-216

  Bava, Sunita ^a,b   Theilmann, Rebecca J ^a   Sach, Miriam ^a   May, Susanne J ^a,b   Frank, Lawrence R ^b,c   Hesselink, John R ^b   Vu, Duc ^a   Trauner, Doris A ^a,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

Children; Cystinosis; DTI; Lysosomal storage disorder; Visuospatial

Indexed keywords

CYSTINE; MYELIN;

ANISOTROPY; ARTICLE; BRAIN DEVELOPMENT; BRAIN DISEASE; BRAIN REGION; CHILD; CHILD DEVELOPMENT; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; CYSTINOSIS; DEPTH PERCEPTION; DIFFUSION TENSOR IMAGING; DIFFUSION WEIGHTED IMAGING; FEMALE; HUMAN; LEUKOCYTE; LYSOSOME STORAGE DISEASE; MALE; PARIETAL LOBE; PRESCHOOL CHILD; SCHOOL CHILD; TASK PERFORMANCE; TEMPORAL LOBE; VISUAL DISCRIMINATION; WHITE MATTER;

ANISOTROPY; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; COGNITION; CYSTINE; CYSTINOSIS; DIFFUSION TENSOR IMAGING; FEMALE; HUMANS; LEUKOCYTES; MALE; NERVE FIBERS, MYELINATED; NEURAL PATHWAYS; NEUROPSYCHOLOGICAL TESTS; PARIETAL LOBE; SPACE PERCEPTION; TEMPORAL LOBE; VISUAL PERCEPTION;

EID: 74249110167     PISSN: 00109452     EISSN: 00109452     Source Type: Journal    
DOI: 10.1016/j.cortex.2009.03.008     Document Type: Article

References (65)

1. Akshoomoff N., and Stiles J. Developmental trends in visuospatial analysis and planning: I. Copying a complex figure. Neuropsychology 9 (1995) 364-377
2. Ashburner J., and Friston K.J. Multimodal image coregistration and partitioning - a unified framework. NeuroImage 6 (1997) 209-217
3. Ashburner J., Neelin P., Collins D.L., Evans A., and Friston K. Incorporating prior knowledge into image registration. NeuroImage 6 (1997) 344-352
4. Ballantyne A.O., Scarvie K.M., and Trauner D.A. Academic achievement in individuals with infantile nephropathic cystinosis. American Journal of Medical Genetics 74 (1997) 157-161
5. Ballantyne A.O., and Trauner D.A. Neurobehavioral consequences of a genetic metabolic disorder: Visual processing deficits in infantile nephropathic cystinosis. Neuropsychiatry, Neuropsychology and Behavioral Neurology 13 (2000) 254-263
6. Barnea-Goraly N., Menon V., Eckert M., Tamm L., Bammer R., Karchemskiy A., et al. White matter development during childhood and adolescence: A cross-sectional diffusion tensor imaging study. Cerebral Cortex 15 (2005) 1848-1854
7. Basser P.J., and Pierpaoli C. A simplified method to measure the diffusion tensor from seven MR images. Magnetic Resonance in Medicine 39 (1998) 928-934
8. Beery K.E., Buktenica N.A., and Beery N.A. Developmental Test of Visual Motor Integration (VMI). 5th ed. (2004), Western Psychological Services, Los Angeles
9. Charnas L.R., Luciano C.A., Dalakas M., Gilliatt R.W., Bernardini I., Ishak K., et al. Distal vacuolar myopathy in nephropathic cystinosis. Annals of Neurology 35 (1994) 181-188
10. Cochat P., Drachman R., Gagnadoux M.F., Pariente D., and Broyer M. Cerebral atrophy and nephropathic cystinosis. Archives of Disease in Childhood 61 (1986) 401-403
11. Colah S., and Trauner D.A. Tactile recognition in infantile nephropathic cystinosis. Developmental Medicine & Child Neurology 39 (1997) 409-413
12. Cox R. Software for analysis and visualization of functional magnetic resonance neuroimages. Computers and Biomedical Research 29 (1996) 162-173
13. Cox R and Glen D. Efficient, robust, nonlinear, and guaranteed positive definite diffusion tensor estimation. In Proceedings of the International Society for Magnetic Resonance in Medicine, 14th Scientific Meeting, 2006: 349.
14. Crespo-Facorro B., Kim J., Andreasen N.C., Spinks R., O'Leary D.S., Bockholt H.J., et al. Cerebral cortex: A topographic segmentation method using magnetic resonance imaging. Psychiatry Research 100 (2000) 97-126
15. DeYoe E.A., and Van Essen D.C. Concurrent processing streams in monkey visual cortex. Trends in Neurosciences 11 (1988) 219-226
16. Ehrich J.H., Stoeppler L., Offner G., and Brodehl J. Evidence for cerebral involvement in nephropathic cystinosis. Neuropadiatrie 10 (1979) 128-137
17. Feksa L.R., Cornelio A., Dutra-Filho C.S., De Souza Wyse A.T., Wajner M., and Wannmacher C.M. Inhibition of pyruvate kinase activity by cystine in brain cortex of rats. Brain Research 1012 (2004) 93-100
18. Fink J.K., Brouwers P., Barton N., Malekzadeh M.H., Sato S., Hill S., et al. Neurologic complications in long-standing nephropathic cystinosis. Archives of Neurology 46 (1989) 543-548
19. Frank L.R. Anisotropy in high angular resolution diffusion-weighted MRI. Magnetic Resonance in Medicine 45 (2001) 935-939
20. Fryer S.L., Frank L.R., Spadoni A.D., Theilmann R.J., Nagel B.J., Schweinsburg A.D., et al. Microstructural integrity of the corpus callosum linked with neuropsychological performance in adolescents. Brain and Cognition 67 (2008) 225-233
21. Gahl W.A. Cystinosis coming of age. Advances in Pediatrics 33 (1986) 95-126
22. Gahl W.A., Dalakas M.C., Charnas L., Chen K.T., Pezeshkpour G.H., Kuwabara T., et al. Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. New England Journal of Medicine 319 (1988) 1461-1464
23. Gahl W.A., Thoene J.G., and Schneider J.A. Cystinosis. New England Journal of Medicine 347 (2002) 111-121
24. Gieselmann V., Polten A., Kreysing J., and von Figura K. Molecular genetics of metachromatic leukodystrophy. Journal of Inherited Metabolic Disease 17 (1994) 500-509
25. Jonas A.J., Conley S.B., Marshall R., Johnson R.A., Marks M., and Rosenberg H. Nephropathic cystinosis with central nervous system involvement. The American Journal of Medicine 83 (1987) 966-970
26. Just M.A., Carpenter P.A., Maguire M., Diwadkar V., and McMains S. Mental rotation of objects retrieved from memory: A functional MRI study of spatial processing. Journal of Experimental Psychology: General 130 (2001) 493-504
27. Kates W.R., Warsofsky I.S., Patwardhan A., Abrams M.T., Liu A.M., Naidu S., et al. Automated Talairach atlas-based parcellation and measurement of cerebral lobes in children. Psychiatry Research 91 (1999) 11-30
28. Kessler A., Biasibetti M., Feksa L.R., Rech V.C., da Silva Melo D.A., Wajner M., et al. Effects of cysteamine on oxidative status in cerebral cortex of rats. Metabolic Brain Disease 23 (2008) 81-93
29. Kim J.J., Crespo-Facorro B., Andreasen N.C., O'Leary D.S., Zhang B., Harris G., et al. An MRI-based parcellation method for the temporal lobe. NeuroImage 11 (2000) 271-288
30. Kleta R., and Gahl W.A. Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opinion on Pharmacotherapy 5 (2004) 2255-2262
31. Klingberg T., Forssberg H., and Westerberg H. Increased brain activity in frontal and parietal cortex underlies the development of visuospatial working memory capacity during childhood. Journal of Cognitive Neuroscience 14 (2002) 1-10
32. Le Bihan D., Mangin J.F., Poupon C., Clark C.A., Pappata S., Molko N., et al. Diffusion tensor imaging: concepts and applications. Journal of Magnetic Resonance Imaging 13 (2001) 534-546
33. Levine S., and Paparo G. Brain lesions in a case of cystinosis. Acta Neuropathologica (Berlin) 57 (1982) 217-220
34. Maurice T., Hippert C., Serratrice N., Dubois G., Jacquet C., Antignac C., et al. Cystine accumulation in the CNS results in severe age-related memory deficits. Neurobiology of Aging 30 (2009) 987-1000
35. McGrew K.S., and Woodcock R.W. Woodcock-Johnson Psychoeducational Battery and Scales of Independent Behavior: Subtest Norms for the WJ/SIB Assessment System (1985), DLM Teaching Resources, Allen, TX
36. Moritani T., Ekholm S., and Westesson P. Diffusion-weighted MR Imaging of the Brain (2004), Springer, Berlin
37. Mukherjee P., Miller J.H., Shimony J.S., Conturo T.E., Lee B.C., Almli C.R., et al. Normal brain maturation during childhood: Developmental trends characterized with diffusion-tensor MR imaging. Radiology 221 (2001) 349-358
38. Mukherjee P., Miller J.H., Shimony J.S., Philip J.V., Nehra D., Snyder A.Z., et al. Diffusion-tensor MR imaging of gray and white matter development during normal human brain maturation. American Journal of Neuroradiology 23 (2002) 1445-1456
39. Nichols S.L., Press G.A., Schneider J.A., and Trauner D.A. Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. Pediatric Neurology 6 (1990) 379-381
40. Oliver R.T., and Thompson-Schill S.L. Dorsal stream activation during retrieval of object size and shape. Cognitive, Affective, and Behavioral Neuroscience 3 (2003) 309-322
41. Pierpaoli C., Jezzard P., Basser P.J., Barnett A., and Di Chiro G. Diffusion tensor MR imaging of the human brain. Radiology 201 (1996) 637-648
42. Pins D., Meyer M.E., Foucher J., Humphreys G., and Boucart M. Neural correlates of implicit object identification. Neuropsychologia 42 (2004) 1247-1259
43. Rao H., Zhou T., Zhuo Y., Fan S., and Chen L. Spatiotemporal activation of the two visual pathways in form discrimination and spatial location: A brain mapping study. Human Brain Mapping 18 (2003) 79-89
44. Ross D.L., Strife C.F., Towbin R., and Bove K.E. Nonabsorptive hydrocephalus associated with nephropathic cystinosis. Neurology 32 (1982) 1330-1334
45. Scarvie K.M., Ballantyne A.O., and Trauner D.A. Visuomotor performance in children with infantile nephropathic cystinosis. Perceptual Motor Skills 82 (1996) 67-75
46. Schmithorst V.J., Holland S.K., and Dardzinski B.J. Developmental differences in white matter architecture between boys and girls. Human Brain Mapping 29 (2008) 696-710
47. Schmithorst V.J., Holland S.K., and Plante E. Object identification and lexical/semantic access in children: A functional magnetic resonance imaging study of word-picture matching. Human Brain Mapping 28 (2007) 1060-1074
48. Schmithorst V.J., Wilke M., Dardzinski B.J., and Holland S.K. Cognitive functions correlate with white matter architecture in a normal pediatric population: A diffusion tensor MRI study. Human Brain Mapping 26 (2005) 139-147
49. Schmithorst V.J., Wilke M., Dardzinski B.J., and Holland S.K. Correlation of white matter diffusivity and anisotropy with age during childhood and adolescence: A cross-sectional diffusion-tensor MR imaging study. Radiology 222 (2002) 212-218
50. Schneider J.F., Il'yasov K.A., Hennig J., and Martin E. Fast quantitative diffusion-tensor imaging of cerebral white matter from the neonatal period to adolescence. Neuroradiology 46 (2004) 258-266
51. Shen L., Hu X., Yacoub E., and Ugurbil K. Neural correlates of visual form and visual spatial processing. Human Brain Mapping 8 (1999) 60-71
52. Smith M., Furlong C.E., Greene A.A., and Schneider J.A. Cystine: Binding protein assay. Methods in Enzymology 143 (1987) 144-148
53. Smolin L.A., Clark K.F., and Schneider J.A. An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. American Journal of Human Genetics 41 (1987) 266-275
54. Snook L., Paulson L.A., Roy D., Phillips L., and Beaulieu C. Diffusion tensor imaging of neurodevelopment in children and young adults. NeuroImage 26 (2005) 1164-1173
55. Stejskal E.O., and Tanner J.E. Spin diffusion measurements: Spin echoes in the presence of a time-dependent field gradient. Journal of Chemical Physics 42 (1965) 288-292
56. Stiles J. Spatial cognitive development following prenatal or perinatal focal brain injury. In: Levin H., and Grafman J. (Eds). Cerebral Reorganization of Function after Brain Damage (2000), Oxford, New York 201-217
57. Thomas K.M., King S.W., Franzen P.L., Welsh T.F., Berkowitz A.L., Noll D.C., et al. A developmental functional MRI study of spatial working memory. NeuroImage 10 (1999) 327-338
58. Trauner D., Chase C., Scheller J., Katz B., and Schneider J.A. Neurologic and cognitive deficits in children with cystinosis. Journal of Pediatrics 112 (1988) 912-914
59. Trauner D.A., Spilkin A.M., Williams J., and Babchuck L. Specific cognitive deficits in young children with cystinosis: Evidence for an early effect of the cystinosin gene on neural function. Journal of Pediatrics 151 (2007) 192-196
60. Ungerleider L., and Mishkin M. Two cortical visual systems. In: Ingle D., Goodale M.A., and Mans R.J.W. (Eds). Analysis of Visual Behavior (1982), MIT Press, Cambridge, MA 549-586
61. Ungerleider L.G., and Haxby J.V. 'What' and 'where' in the human brain. Current Opinion in Neurobiology 4 (1994) 157-165
62. van der Knaap M.S., Breiter S.N., Naidu S., Hart A.A., and Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology 213 (1999) 121-133
63. Vogel D.G., Malekzadeh M.H., Cornford M.E., Schneider J.A., Shields W.D., and Vinters H.V. Central nervous system involvement in nephropathic cystinosis. Journal of Neuropathology and Experimental Neurology 49 (1990) 591-599
64. Wechsler D. Wechsler Intelligence Scale for Children-III (1991), Psychological Corporation, San Antonio, TX
65. Wechsler D. Wechsler Preschool and Primary Scale of Intelligence-Revised (1989), Psychological Corporation, San Antonio, TX