Imaging of neurogenetic and neurometabolic disorders of childhood

Current Neurology and Neuroscience Reports

Volumn 4, Issue 2, 2004, Pages 139-146

  Gropman, Andrea ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; AMINO ACID; CHOLINE; CREATINE; CREATINE PHOSPHATE; FRAGILE X MENTAL RETARDATION PROTEIN; GLUTAMIC ACID; GLUTAMINE; INOSITOL; LACTIC ACID; N ACETYLASPARTIC ACID; NEUROTRANSMITTER; ORNITHINE CARBAMOYLTRANSFERASE; PHENYLALANINE; PHOSPHORUS 31; UREA;

ADRENOLEUKODYSTROPHY; AEROBIC METABOLISM; BRAIN ATROPHY; CHILD; CHILDHOOD DISEASE; DIFFUSION COEFFICIENT; DIFFUSION TENSOR IMAGING; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FRAGILE X SYNDROME; FUNCTIONAL ASSESSMENT; GENETIC DISORDER; HUMAN; MEDICAL RESEARCH; METABOLIC DISORDER; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OXYGEN BLOOD LEVEL; PHENOTYPE; PHENYLKETONURIA; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PROTON NUCLEAR MAGNETIC RESONANCE; RETT SYNDROME; REVIEW; TURNER SYNDROME; UREA CYCLE; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME; X CHROMOSOME LINKED DISORDER; DIFFUSION WEIGHTED IMAGING; GENETICS; INBORN ERROR OF METABOLISM; PATHOLOGY;

CHILD; DIFFUSION MAGNETIC RESONANCE IMAGING; HUMANS; MAGNETIC RESONANCE IMAGING; METABOLISM, INBORN ERRORS; NERVOUS SYSTEM DISEASES; PHENOTYPE;

EID: 1842591817     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-004-0028-2     Document Type: Review

References (52)

1. Hashemi RJ, Bradley WG Jr: MRI the Basics. Baltimore: Lippincott, Williams and Wilkins; 1997.
2. Basser PJ: Inferring micro structural features and the physiological state of tissues from diffusion-weighted images. Nucl Magn Reson Biomed 1995, 8:333-344.
3. Huppi PS, Maier SE, Peled S, et al.: Microstructural development of human newborn cerebral white matter assessed in vivo by diffusion tensor magnetic resonance imaging. Pediatr Res 1998, 44:584-590.
4. Neil JJ, Shiran SI, McKinstry RC, et al.: Normal brain in human newborns: apparent diffusion coefficient and diffusion anisotropy measured by using diffusion tensor MR imaging. Radiology 1998, 209:57-66.
5. Moser HW, Loes DJ, Melhem ER, et al.: X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics 2000, 31:227-239.
6. Eichler FS, Itoh R, Barker PB, et al.: Proton MR spectroscopic and diffusion tensor brain MR imaging in x-linked adrenoleukodystrophy: initial experience. Radiology 2002, 225:245-252.
7. Wieshmann UC, Clark CA, Symms MR, et al.: Reduced anisotropy of water diffusion in structural cerebral abnormalities demonstrated with diffusion tensor imaging. Magn Reson Imaging 1999, 17:1269-1274.
8. Sener RN: Phenylketonuria: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy. J Comput Assist Tomogr 2003, 27:541-543.
9. Albayram S, Melhem ER, Mori S, et al.: Holoprosencephaly in children: diffusion tensor mr imaging of white matter tracts of the brainstem - initial experience. Radiology 2002, 223:645-651.
10. Logothetis NK, Puals J, Augath M: Neurophysiological investigation of the basis of the fMRI signal. Nature 2001, 12:150-157.
11. Cohen JS, Bookheimer SY: Localization of brain function using magnetic resonance imaging. Trends Neurosci 1994, 17:288-297.
12. Bookheimer SY, Strojwas MH, Cohen MS, et al.: Patterns of brain activation in people at risk for alzheimer's disease. N Engl J Med 2000, 343:450-456.
13. Reiss AL, Eliez S, Schmitt JE, et al.: Brain imaging in neurogenetic conditions: realizing the potential of behavioral neurogenetics research. Ment Retard Dev Disabil Res Rev 2000, 6:186-197.
14. Reiss A, Freund L: Behavioral neurogenetics research: a method for analyzing linkages among gene, brain, and behavior. In Advancing Research on Developmental Plasticity: Integrating the Behavioral Science and Neurosciences of Mental Health. Edited by Hann D, Huffman K, Kederhandler I, Meinecke D. Bethesda, MD: NIH; 2001:83-95.
15. Jin P, Warren ST: New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci 2001, 28:152-158.
16. Hagerman RJ, Hagerman PJ: The Fragile X permutation: into the phenotypic fold. Curr Opin Genet Dev 2002, 12:278-283.
17. Eliez S, Blasey CM, Freund LS, et al.: Brain anatomy, gender, and IQ in children and adolescents with fragile X syndrome. Brain 2001, 124:1610-1618.
18. Barnea-Goraly N, Eliez S, Hedeus M, et al.: White matter tract alterations in fragile X syndrome: preliminary evidence from diffusion tensor imaging. Am J Med Genet 2003, 118B:81-88.
19. Shprintzen RJ: Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 2000, 6:142-147.
20. van Amelsvoort T, Daly G, Robertson D, et al.: Structural brain abnormalities associated with deletion at chromosome 22q11: quantitative neuroimaging study of adults with velo-cardio-facial syndrome. Br J Psychiatry 2001, 178:412-419.
21. Eliez S, Blasey CM, Menon V, et al.: Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). Genet Med 2001, 3:49-55.
22. Donnai D, Karmiloff-Smith A: Williams's syndrome from genotype through to the cognitive phenotype. Am J Med Genet 2000, 97:164-171.
23. Schmitt JE, Watts K, Eliez S, et al.: Increased gyrification in Williams's syndrome: evidence using 3D MRI methods. Dev Med Child Neurol 2002, 44:292-295.
24. Levitan DJ, Menon V, Schmitt JE, et al.: Neural correlates of auditory perception in Williams syndrome: an fMRI study. Neuroimage 2003, 18:74-82.
25. Rae C, Karmiloff-Smith A, Lee MA, et al.: Brain biochemistry in Williams's syndrome: evidence for a role of the cerebellum in cognition? Neurology 1998, 51:8-9.
26. Nihhuls-Vandersanden MW, Eling PA, Otten BJ: A review of neuropsychological and motor studies in Turner syndrome. Neurosci Biobehav Rev 2003, 27:329-338.
27. Fryer SL, Kwon H, Eliez S, Reiss AL: Corpus callosum and posterior fossa development in monozygotic females: a morphometric MRI study of Turner syndrome. Dev Med Child Neurol 2003, 45:320-324.
28. Tamm L, Menon V, Reiss AL: Abnormal prefrontal cortex function during response inhibition in Turner syndrome: functional magnetic resonance imaging evidence. Biol Psychiatry 2003, 53:107-111.
29. Pfeuffer J, Tkac I, Provencher SW, Gruetter R: Toward an in vivo neurochemical profile: Quantification of 18 metabolites in short-echo-time (1) H NMR spectra of the rat brain. J Magn Reson 1999, 14:104-120.
30. Tkac I, Andersen P, Adriany G, et al.: In vivo 1H NMR Spectroscopy of the human brain at 7T. Magn Reson Med 2001, 46:451-456.
31. deGrauw TJ, Cecil KM, Byars AW, Salomons GS: The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 2003, 244:45-48.
32. Weglage J, Wiedermann D, Denecke J, et al.: Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria. J Inherit Metab Dis 2002, 25:431-436.
33. Jan W, Zimmerman RA, Wang ZJ, et al.: MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 2003, 45:393-399.
34. Choi CG, Yoo HW: Localized proton MR spectroscopy in infants with urea cycle defect. Am J Neuroradiol 2001, 22:834-837.
35. Takanashi J, Kurihara A, Tomita M, et al.: Distinctly abnormal brain metabolism in late onset ornithine transcarbamylase deficiency. Neurology 2002, 59:210-214.
36. Stockler S, Hanefeld F, Frahm J, et al.: Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996, 348:789-790.
37. Kimura S, Ohtuki N, Nezu A, et al.: Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy. Brain Dev 1997, 19:535-540.
38. Cross JH, Gadian DG, Connelly A, Leonard JV: Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders. J Inherit Metab Dis 1993, 16:800-811.
39. Sylvain M, Mitchel GA, Shevell MI, et al.: Muscle and brain magnetic resonance spectroscopy (MRS) and imaging (MRI) in children with Leigh's syndrome associated with cytochrome C oxidase deficiency: dependence on findings on clinical status. Ann Neurol 1993, 54:464.
40. Harada M, Tanouchi M, Arai K, et al.: Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. Magn Reson Imag 1996, 14:129-133.
41. Shevell MI, Didomenicantonio G, Sylvain M, et al.: Glutaric academia type II: neuroimaging and spectroscopy evidence for developmental encephalopmyopathy. Pediatr Neurol 1995, 12:350-353.
42. Lin DD, Crawford TO, Barker PB: Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. Am J Neuroradiol 2003, 24:33-41.
43. Weglage J, Wiedermann D, Denecke J, et al.: Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. J Inherit Metab Dis 2002, 25:431-436.
44. Wittsack HJ, Kugel H, Roth B, Heindel W: Quantitative measurements with localized 1H MR spectroscopy in children with Canavan's disease. J Magn Reson Imaging 1996, 6:889-893.
45. Yalcinkaya C, Dincer A, Gunduz, et al.: MRI and MRS in HMG-CoA Lyase deficiency. Pediatr Neurol 1999, 20:375-380.
46. Gabis L, Parton P, Roche P, et al.: In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia. J Neuroimaging 2001, 11:209-211.
47. Viola A, Chabrol B, Nicoli F, et al.: Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia. Pediatr Res 2002, 52:292-300.
48. Jakobs C, Jaeken J, Gibson KM, et al.: Inherited disorders of GABA metabolism. J Inherit Metab Dis 1993, 16:704-715.
49. Khong PL, Lam CW, Ooi CG, et al.: Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome. Pediatr Neurol 2002, 26:205-209.
50. Pan JW, Lane JB, Hetherington H, Percy AK: Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla. J Child Neurol 1999, 14:524-528.
51. Bluml S, Philippart M, Schiffman R, et al.: Membrane phospholipids and high energy metabolites in childhood ataxia and CNS hypomyelination. Neurology 2003, 61:648-654.
52. Gillies RJ, Barry JA, Ross BD: In vitro and in vivo 13C and 31P NMR analyses of phosphocholine metabolism in rat glioma cells. Magn Reson Med 1994, 32:310-318.