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Localized Proton Magnetic Resonance Spectroscopy of Brain Disorders in Childhood

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Magnetic Resonance Spectroscopy and Imaging in Neurochemistry

Part of the book series: Advances in Neurochemistry ((ANCH,volume 8))

Summary

Localized proton magnetic resonance spectroscopy is used to study cerebral metabolic disorders in children. The development of single-voxel techniques allows quantitative calculation of the absolute concentrations in different regions of the brain of metabolites that are readily observed in 1H spectra. These include N-acetylaspartate (NAA), lactate, amino acids, inositols, choline-containing compounds, and total creatine. The studies are illustrated by the results on numerous childhood disorders: the leukodystrophies, other white-matter diseases,gray-matter diseases, mitochondrial diseases, and miscellaneous deficiency disorders.

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References

  • Aicardi, J., 1992, “Diseases of the Nervous System in Childhood,” Mac Keith Press, London.

    Google Scholar 

  • Aicardi, J., 1993, The inherited leukodystrophies: A clinical overview, J. Inherited Metab. Dis. 16:733–743.

    Article  Google Scholar 

  • Alexander, W. S., 1949, Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant, Brain 72:373–381.

    Article  PubMed  CAS  Google Scholar 

  • Arend, A. O., Leary, P. M., and Rutherfoord, G. S., 1991, Alexander’s disease: A case report with brain biopsy, ultrasound, CT scan and MRI findings, Clin. Neuropathol. 10:122–126.

    PubMed  CAS  Google Scholar 

  • Arus, C., Chang, Y., and Barany, M., 1985, Proton nuclear magnetic resonance spectra of excised rat brain. Assignment of resonances, Physiol. Chem. Phys. Med. NMR 17:23–33.

    PubMed  CAS  Google Scholar 

  • Aubourg, P., Balancne, S., Jambaque, I., Rocchiccioli, R., Kalifa, G., Naud-Saudreau, C., Rolland, M. O., Debre, M., Chaussain, J. L., Greiscelli, C., Fische, A., and Baugneres P.-F., 1990, Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation, N. Engl. J. Med. 322:1860–1866.

    Article  PubMed  CAS  Google Scholar 

  • Austin, J. H., Balasubramanian, A. S., Pattabiraman, T. N., Saraswathi, S., Basu, D. K., and Bachhawat, B. K., 1963, A controlled study of enzymatic activities in three human disorders of glycolipid metabolism, J. Neurochem. 10:805–816.

    Article  PubMed  CAS  Google Scholar 

  • Austin, S. J., Connelly, A., Gadian, D. G., Benton, J. S., and Brett, E. М., 1991, Localized proton NMR spectroscopy in Canavan’s disease: A report of two cases, Magn. Reson. Med. 19:439–445.

    Article  PubMed  CAS  Google Scholar 

  • Autti, T., Raininko, R., Jaunes, J., Nuutila, A., and Santavuori, P., 1992, Jansky—Bielschowsky variant disease: CT, MRI, and SPECT findings, Pediatr. Neurol. 8:121–126.

    Article  PubMed  CAS  Google Scholar 

  • Baram, T. Z., Goldman, A. М., and Percy, A. K., 1986, Krabbe disease: Specific MRI and CT findings, Neurology 36:111–115.

    Article  PubMed  CAS  Google Scholar 

  • Barker, P. B., Kumar, A. J., and Naidu, S., 1991, 1H NMR spectroscopy of Canavan’s disease, in “Book of Abstracts,” 10th Annual Meeting, p. 381. Society of Magnetic Resonance in Medicine, Berkeley, California.

    Google Scholar 

  • Barkovich, A. J., 1995, “Pediatric Neuroimaging,” Raven Press, New York.

    Google Scholar 

  • Barkovich, A. J., and Chuang, S. H., 1990, Unilateral megalencephaly: Correlation of MR imaging and pathologic characteristics, Am. J. Neuroradiol. 11:523–531.

    PubMed  CAS  Google Scholar 

  • Barkovich, A. J., Good, W. V., Koch, T. K., and Berg, B. O., 1993, Mitochondrial disorders: Analysis of their clinical and imaging characteristics, Am. J. Neuroradiol. 14:1119–1137.

    PubMed  CAS  Google Scholar 

  • Barth, P. G., Schiittgens, R. B. H., Wanders, R. J., and Heymans, H. S. A., 1988, The spectrum of peroxisomal disorders, in “Child Neurology and Developmental Disabilities. Selected Proceedings of the Forth International Child Neurology Congress” (J. H. French. ed.), Paul H. Brookes, Baltimore, pp. 67–82.

    Google Scholar 

  • Barth, P. G., Hoffmann, G. F., Jaeken, J., Lehnen, W., Hanefeld, F., van Gennip, A. H. Duran, М., Valk, J., Schutgens, R. B. H., Trefz, F. K., Reimann, G., and Hartung, H. P., 1992, L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann. Neurol. 32:66–71.

    Article  PubMed  CAS  Google Scholar 

  • Behar, K. L., den Hollander, J. A., Stromski, M. E., Ogino, T., Shulman, R. G., Petroff, O. A. C., and Prichard, J. W., 1983, High-resolution 1H nuclear magnetic resonance study of cerebral hypoxia in vivo, Proc. Natl. Acad. Sci. USA 80:4945–4948.

    Article  PubMed  CAS  Google Scholar 

  • Birken, D. L., and Oldendorf, W. H., 1989, N-Acetyl-L-aspartic acid: A literature review of a compound prominent in 1H-NMR spectroscopic studies of brain, Neurosci. Biobehay. Rev, 13:23–31.

    Article  CAS  Google Scholar 

  • Boespflug-Tanguy, O., Mimault, C., Melki, J., Cavagna, A., Giraud, G., Dinh, D. P., Dastugue, B., and Dautigny, A., 1994, Genetic homogeneity of Pelizaeus—Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families, Am. J. Hum. Genet. 55:461–467.

    PubMed  CAS  Google Scholar 

  • Bottomley, P. A., 1984, U.S. Patent 44 80 228.

    Google Scholar 

  • Bottomley, P. A., 1987, Spatial localization in NMR-spectroscopy in vivo,Ann. N. Y. Acad. Sci. 508:333–348.

    Article  PubMed  CAS  Google Scholar 

  • Bottomley, P. A., 1991, The trouble with spectroscopy papers, Radiology 181:344–350.

    PubMed  CAS  Google Scholar 

  • Bottomley, P. A., Edelstein, W. A., Foster, T. H., and Adams, W. A., 1985, In vivo solvent-suppressed localized hydrogen nuclear magnetic resonance spectroscopy: A window to metabolism’?, Proc, Natl. Acad. Sci. USA 82:2148–2152.

    Article  CAS  Google Scholar 

  • Bourgeois, M., Goutieres, F., Chretien, D., Rustin, P., Munnich, A., and Aicardi, J., 1992, Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome, Brain Dev. 14:404–408.

    Article  Google Scholar 

  • Brand, A., Richter-Landsberg, C., and Leibfritz, D., 1993, Multinuclear NMR studies on the energy metabolism of glial and neuronal cells, Dee Neurosci. 15:289–298.

    Article  CAS  Google Scholar 

  • Bruhn, H., Frahm, J., Gyngell, M. L., Merboldt, K. D., Hänicke, W., and Sauter, R., 1989a, Cerebral metabolism in man after acute stroke: New observations using localized proton NMR spectroscopy, Magn. Reson. Med. 9:126–131.

    Article  CAS  Google Scholar 

  • Bruhn, H., Frahm, J., Gyngell, M. L., Merboldt, K. D., Hänicke, W., Sauter, R., and Hamburger, C., 1989b, Noninvasive differentiation of tumors using localized H-1 MR spectroscopy in vivo: Initial experience in patients with cerebral tumors, Radiology 172:541–548.

    CAS  Google Scholar 

  • Bruhn, H., Michaelis, T., Merboldt, K. D., Hänicke, W., Gyngell, M. L., and Frahm, J., 1991, Monitoring cerebral glucose in diabetics by proton MRS, Lancet 337:745–746.

    Article  PubMed  CAS  Google Scholar 

  • Bruhn, H., Michaelis, T., Merboldt, K. D., Hänicke, W., Gyngell, M. L., Hamburger, C., and Frahm, J., 1992a, On the interpretation of proton NMR spectra from brain tumours in vivo and in vitro, NMR Biorned. 5:253–258.

    Article  CAS  Google Scholar 

  • Bruhn, H., Frahm, J., Merboldt, K. D., Hänicke, W., Christen, H. J., Kruse, B., Hanefeld, F. and Bauer, H. J., 1992b, Multiple sclerosis in children. Cerebral metabolic alterations monitored by localized proton magnetic resonance spectroscopy in vivo,Ann. Neurol. 32:140–150.

    Article  CAS  Google Scholar 

  • Bruhn, H., Kruse, B., Korenke, G. C., Nanefeld, F., Hänicke, W., Merboldt, K. D., and Frahm, J., 1992c Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders, J. Comput. Assist. Tomogr. 16:335–344.

    Article  CAS  Google Scholar 

  • Canavan, M. M., 1931, Schilder’s encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months, Arch. Neurol. Psychiatry 25:299–308.

    Article  Google Scholar 

  • Cassedy, K. J., and Edwards, М. K., 1993, Metabolic and degenerative diseases of childhood, Top. Magn. Reson. Imaging 5:73–95.

    PubMed  CAS  Google Scholar 

  • Claussen, M., Heim, P., Knispel, J., Goebel, H. H., and Kohlschütter, A., 1992, Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders, Am. J. Med. Genet. 42:536–538.

    Article  PubMed  CAS  Google Scholar 

  • Cohen, M. E., and Duffner, P. K., 1994, “Brain Tumors in Children. Principles of Diagnosis and Treatment,” Raven Press, New York.

    Google Scholar 

  • Confort-Gouny, S., Chabrol, B., Vion-Dury, J., Mancini, J., and Cozzone, P. J., 1993, MRI and localized proton MRS in early infantile form of neuronal ceroid-lipofuscinosis, Pediatr. Neural. 9:57–60.

    Article  CAS  Google Scholar 

  • Crome, L., Nanefeld, F., Patrick, D., and Wilson, J., 1973, Late onset globoid cell leukodystrophy, Brain 96:841–848.

    Article  PubMed  CAS  Google Scholar 

  • Detre, J. A., Wang, Z. Y., Bogdan, A. R., Gusnard, D. A., Bay, C. A., Bingham, P. M., and Zimmerman, R. A., 1991, Regional variation in brain lactate in Leigh syndrome by localized ‘H magnetic resonance spectroscopy, Ann. Neurol. 29:218–221.

    Article  PubMed  CAS  Google Scholar 

  • Doll, R., Natowicz, M. R., Schiffman, R., and Smith, F. I., 1992, Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus—Merzbacher disease, Am. J. Hum. Genet. 51:161–169.

    PubMed  CAS  Google Scholar 

  • Ernst T., and Hennig, J., 1991, Coupling effects in volume-selective 1H spectroscopy of major brain metabolites, Magn. Reson. Med. 21:82–96.

    Article  PubMed  CAS  Google Scholar 

  • Frahm, J., 1993, Nuclear magnetic resonance studies of human brain in viva: Anatomy, function, and metabolism, Adv. Exp. Med. Biol. 333:257–271.

    PubMed  CAS  Google Scholar 

  • Frahm, J., and Hänicke, W., 1994, Single voxel localized spectroscopy, in “Advanced Magnetic Resonance Spectroscopy,” Syllabus, 2nd Annual Meeting, pp. 206–213, Society of Magnetic Resonance, Berkeley, California.

    Google Scholar 

  • Frahm, J., and Hänicke, W., 1996, Single voxel proton NMR. Methods and applications to human subjects, in “Encyclopedia of Nuclear Magnetic Resonance” (D. M. Grant and R. K. Harris, eds.), Wiley, Chichester.

    Google Scholar 

  • Frahm, J., Haase, A., Hänicke, W., Merboldt, K. D., and Matthaei, D., 1984, Verfahren und Einrichtung zur ortsaufgelösten Untersuchung einer Probe mittels magnetischer Resonanz von Spinmomenten, German Patent DE 3445689.

    Google Scholar 

  • Frahm, J., Merboldt, K. D., and Hänicke, W., 1987, Localized proton spectroscopy using stimulated echoes, J. Magn. Reson. 72:502–508.

    Article  CAS  Google Scholar 

  • Frahm, J., Michaelis, T., Merboldt, K. D., Hänicke, W., Gyngell, M. L., Chien, D., and Bruhn, H., 1989, Localized NMR spectroscopy in vivo. Progress and problems, NMR Biomed. 2:188–195.

    Article  PubMed  CAS  Google Scholar 

  • Frahm, J., Michaelis, T., Merboldt, K. D., Bruhn, H., Gyngell, M. L., and Hänicke, W., 1990, Improvements in localized 1H-NMR spectroscopy of human brain. Water suppression, short echo times, and I mL resolution, J. Magn. Reson. 90:464–473.

    Article  CAS  Google Scholar 

  • Frahm, J., Michaelis, T., Merboldt, K. D., Hänicke, W., Gyngell, M. L., and Bruhn, H., 1991a, On the N-acetyl methyl resonance in localized 1H-NMR spectra of human brain in vivo, NMR Rimmed. 4:201–204.

    Article  CAS  Google Scholar 

  • Frahm, J., Bruhn, H., Merboldt, K. D., Hänicke, W., Mursch, K., and Markakis, E., 1991b, Localized proton NMR spectroscopy of brain tumors. Methodologic improvements using short-echo time STEAM sequences, J. Comput. Assist. Tomogr. 15:915–922.

    Article  CAS  Google Scholar 

  • Frahm, J., Gyngell, M. L., and Hänicke, W., 1991c, Rapid scan techniques, in “Magnetic Resonance Imaging” (D. D. Stark and W. G. Bradley, eds.), pp. 165–203, CV Mosby, St. Louis.

    Google Scholar 

  • Frahm, J., Bruhn, H., and Hanefeld, F., 1995, Proton NMR studies of human brain metabolism, in “Proceedings of the 2nd International Conference on Applications of Magnetic Resonance in Food Science, University of Aveiro, Portugal, 19–21 September 1994” (P. S. Belton, I. Delgadillo, A. М. Gil, and G. A. Webb, eds.), pp. 191–205, Royal Society of Chemistry, Cambridge.

    Google Scholar 

  • Frahm, J., Kruger, G., Merboldt, K. D., and Kleinschmidt, A., 1996, Dynamic uncoupling and recoupling of perfusion and oxidative metabolism during focal brain activation in man, Magu. Reson. Med. 35:143–148.

    Article  CAS  Google Scholar 

  • Fulham, M. J., Bizzi, A., Dietz, M. J., Shih, H. H., Raman, R., Sobering, G. S., Frank, J. A., Dwyer, A. J., Alger, J. R., and Di Chiro, G., 1992, Mapping of brain tumor metabolites with proton MR spectroscopic imaging: Clinical relevance, Radiology 185:675–686.

    PubMed  CAS  Google Scholar 

  • Grodd, W., Krägeloh-Mann, I., Petersen, D., Trefz, F. K., and Harzer, K., 1990, In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan’s disease) by proton spectroscopy, Lancet 336:437–438.

    Article  PubMed  CAS  Google Scholar 

  • Grodd, W., Krägeloh-Mann, I., Klose, U., and Sauter, R., 1991, Metabolic and destructive brain disorders in children: Findings with localized proton MR spectroscopy, Radiology 181:173–181.

    PubMed  CAS  Google Scholar 

  • Gropen, T. I., Prohovnik, I., Tatemichi, T. K., and Hirano, M., 1994, Cerebral hyperemia in MELAS. Stroke 25:1873–1876.

    Article  PubMed  CAS  Google Scholar 

  • Gyngell, M. L., Michaelis, T., Bruhn, H., Hänicke, W., Merboldt, K. D., and Frahm, J., 1991, Cerebral glucose is detectable by localized proton NMR spectroscopy in normal rat brain in vivo, Magn. Rerun. Med. 19:489–495.

    Article  CAS  Google Scholar 

  • Haase, A., Frahm, J., Hänicke, W., and Matthaei, D., 1985, 1H NMR chemical shift selective (CHESS) imaging, Phys. Med. Biol. 30:341–344.

    Article  PubMed  CAS  Google Scholar 

  • Hagberg, B., 1993, “Rett Syndrome—Clinical & Biological Aspects”, Mac Keith Press, London.

    Google Scholar 

  • Hagberg, B., Kollberg, H., Sourander, P., and Akerson, H. O., 1970, Infantile globoid cell leuco- dystrophy (Krabbe’s disease): A clinical, morphological, and genetical study of 32 Swedish cases, Neuropädiatrie 1:74–88.

    Article  Google Scholar 

  • Hagberg, B., Blennow, G., Kristiansson, B., and Stibler, H., 1993, Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders, Pediatr. Neural. 9:255–262.

    Article  CAS  Google Scholar 

  • Hahn, E. L., 1950, Spin echoes, Phys. Rev. 80:580–592.

    Article  Google Scholar 

  • Hallervorden, J., 1923, Angeborene Hemihypertrophie der linken Körperhälfte ein-schließlich des Gehirns, Zentralbl. Gesamte Neurol. Psychiatr. 33:518–519.

    Google Scholar 

  • Hanefeld, F., 1995, Characteristic of childhood multiple sclerosis, Int. М. S. J. 1:91–97.

    Google Scholar 

  • Hanefeld, F., Bauer, H. J., Christen, H. J., Kruse, B, Bruhn, H., and Frahm, J., 1991. Multiple sclerosis in childhood: Report of 15 cases, Brain Dee. 13:410–416.

    Article  CAS  Google Scholar 

  • Hanefeld, F., Holzbach, U., Kruse, B., Wilichowski, E., Christen, H. J., and J. Frahm, 1993, Diffuse white matter disease in three children: An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy, Neuropediatric.s 24:244–248.

    Article  CAS  Google Scholar 

  • Hanefeld, F., Kruse, K., Bruhn, H., and Frahm, J., 1994, In viva proton magnetic resonance spectros- copy of the brain in a patient with L-2-hydroxyglutaric aciduria, Pcdiatr. Res. 35:614–616.

    Article  CAS  Google Scholar 

  • Hanefeld, F., Christen, H. J., Holzbach, U., Kruse, B., Frahm, J., and Hänicke, W., 1995a, Cerebral proton magnetic resonance spectroscopy in Rett syndrome, Neuropediatrics 26:126–127.

    Article  CAS  Google Scholar 

  • Hanefeld, F., Kruse, B., Holzbach, U., Christen, H. J., Merboldt, K. D., Hänicke, W., and Frahm, J, 1995b, Hemimegalencephaly. Localized proton magnetic resonance spectroscopy in viva, Epilepsia 36:1215–1224.

    Article  CAS  Google Scholar 

  • Hashimoto, T., Tayama, M., Miyazaki, М., Fuji, E., Harada, M., Miyoshi, H., Tanouchi, М., and Kuroda, Y., 1995, Developmental brain changes investigated with proton magnetic resonance spectroscopy, Dev. Med. Child Neurol. 37:398–405.

    Article  PubMed  CAS  Google Scholar 

  • Herschkowitz, N., and Schulte, F. J., 1984, Gangliosidoses and leukodystrophies: A correlative approach in pediatric neurobiology, Neuropediatris 15(Suppl.):1–112.

    Google Scholar 

  • Holzbach, U., Hanefeld, F., Helms, G., Hänicke, W., and Frahm, J., 1995, Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome, Acta Paediatr. 84:781–786.

    Article  PubMed  CAS  Google Scholar 

  • Hoult, D. I., and Richards, R. E., 1976, The signal-to-noise ratio of the nuclear magnetic resonance experiment, J. Magn. Reson. 24:71–85.

    Article  Google Scholar 

  • Howe, F. A., Maxwell, R. J., Saunders, D. E., Brown, М. М., and Griffiths, J. R., 1993, Proton spectroscopy in vivo, Magn. Resort. Q. 9:31–59.

    CAS  Google Scholar 

  • Hüppi, P. S., Posse, S., Lazeyras, F., Burn, R., Bossi, E., and Herschkowitz, N., 1991, Magnetic resonance in preterm and term newborns: 1H-spectroscopy in developing human brain, Pеdiatr. Res. 30:574–578.

    Article  Google Scholar 

  • Hüppi, P. S., Fusch, C., Boesch, C., Burn, R., Bossi, E., Amato, М., and Herschkowitz, N., 1995, Regional metabolic assessment of human brain during development by proton magnetic resonance spectroscopy in vivo and by high-performance liquid chromatography/gas chromatography in autopsy tissue, Pеdiatr. Res. 37:145–150.

    Article  Google Scholar 

  • Rusted, C. A., Matson, G. B., Adams, D. A., Goodin, D. S., and Weiner, M. W., 1994, In vivo detection of myelin phospholipids in multiple sclerosis with phosphorus magnetic resonance spectroscopic imaging, Ann. Neurol. 36:239–241.

    Article  Google Scholar 

  • Jaeken, J., Stibler, H., and Hagberg B. (eds.), 1991, The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement, Acta Paediatr. Scand. 375:1–71.

    CAS  Google Scholar 

  • Järvelä, I., Vesa, J., Santavuori, P., Hellsten, E., and Peltonen, L., 1992, Molecular genetics of neuronal ceroid lipofuscinoses, Pediatr. Res. 32:645–648.

    Article  PubMed  Google Scholar 

  • Kaul, R., Gao, G. P., Balamurugan, K., and Matalon, R., 1993, Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease, Nat. Genet. 5:118–123.

    Article  PubMed  CAS  Google Scholar 

  • Kauppinen, R. A., Nissinen, T., Kärkkäinen, A. M., Pirttila, T. R. М., Palrimo, J., Kokko, H., and Williams, S. R., 1992, Detection of thymosin (34 in situ in a guinea pig cerebral cortex preparation using ‘H NMR spectroscopy, J. Biol. Chem. 267:9905–9910.

    PubMed  CAS  Google Scholar 

  • Kemp, G. J., and Radda, G. K., 1994, Quantitative interpretation of bioenergetic data from 31P and 1H magnetic resonance spectroscopic studies of skeletal muscle: An analytical review, Magn. Reson. Q. 10:43–63.

    PubMed  CAS  Google Scholar 

  • Kendall, B. E., 1993, Inborn errors and demyelination: MRI and the diagnosis of white matter disease, J. Inherited Metab. Dis. 16:771–786.

    Article  PubMed  CAS  Google Scholar 

  • Kinoshita, Y., Kajiwara, H., Yokota, A., and Koga, Y., 1994, Proton magnetic resonance spectroscopy of brain tumors: An in vitro study, Neurosurgery 35:606–614.

    Article  PubMed  CAS  Google Scholar 

  • Kolodny, E. H., 1989, Metachromatic leukodystrophy and multiple sulfatase deficiency: Sulfatide lipidosis, in “The Metabolic Basis of Inherited Disease” (C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle, eds), pp. 1721–1750, McGraw-Hill, New York.

    Google Scholar 

  • Kolodny, E. H., 1993, Dysmeylinating and demyelinating conditions in infancy, Curt. Opin. Neurol. Neurosurg. 6:379–386.

    CAS  Google Scholar 

  • Krabbe, K., 1916, A new familial form of diffuse brain-sclerosis, Brain 39:74–114.

    Article  Google Scholar 

  • Krägeloh-Mann, I., Grodd, W., Schöning, M., Marquard, K., Nägele, I., and Ruitenbeek, W., 1993, Proton spectroscopy in five patients with Leigh’s disease and mitochondria) enzyme deficiency,Dev. Med. Child. Neural. 35:769–776.

    Article  Google Scholar 

  • Kreis, R., and Ross, 1992, Cerebral metabolic disturbances in patients with subacute and chronic diabetes mellitus: Detection with proton MR spectroscopy, Radiology 184:123–130.

    PubMed  CAS  Google Scholar 

  • Kreis, R., Farrow, N. A., and Ross, B. D., 1990, Diagnosis of hepatic encephalopathy by proton magnetic resonance spectroscopy, Lancet 336:635–636.

    Article  PubMed  CAS  Google Scholar 

  • Kreis, R., Ross, B. D., Farrow, N. A., and Ackermann, Z., 1992, Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy, Radiology 182:19–27.

    PubMed  CAS  Google Scholar 

  • Kreis, R., Ernst, T., and Ross, B. D., 1993, Development of the human brain: In vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy, Magn. Reson. Med. 30:424–437.

    Article  PubMed  CAS  Google Scholar 

  • Kruse, B., Hanefeld, F., Christen, H. J., Bruhn, H., Michaelis, T., Hänicke, W., and Frahm, J., 1993, Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton MR spectroscopy in vivo,J. Neural. 241:68–74.

    CAS  Google Scholar 

  • Kruse, B., Barker, P. В., van Zijl, P. C., Duyn, J. H., Moonen, C. T., and Moser, H. W., 1994a, Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy, Ann. Neural, 36:595–608.

    Article  CAS  Google Scholar 

  • Kruse, B., Hanefeld, F., Holzbach, U., Wilichowski, E., Christen, H. J., Merboldt, K. D., Hänicke, W., and Frahm, J., 1994b, Dev. Med. Child. Neural. 36:839–840. [Letter to: Krägeloh-Mann, I., Grodd, W., Schöning, M., Marquard, K., Nägele, T., and Ruitenbeek, W., Proton spectroscopy in patients with Leigh’s disease and mitochondrial enzyme deficiency, Den. Med. Child. Neural. 35:769–776].

    CAS  Google Scholar 

  • Kucharczyk, W., Brant-Zawadzki, M., Sobel, D., Edwards, М. B., Kelly, W. М., Norman, D., and Newton, T. H., 1985, Central nervous system tumors in children: Detection by magnetic resonance imaging, Radiology 155:131–136.

    PubMed  CAS  Google Scholar 

  • Lee, M. L., Chaou, W. T., Yang, A. D., Jong, Y. J., Tsai, J. L., Pang, C. Y., and Wei, Y. H., 1994, Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): Report of a sporadic case and review of the literature, Ada Paediatr: Sin. 35:148–156.

    CAS  Google Scholar 

  • Leigh, D., 1951, Subacute necrotizing encephalomyelopathy in an infant, J. Neural. Neurosurg. Psychiatry, 14:216–221.

    Article  CAS  Google Scholar 

  • Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F., Jaeken, J., Blennow, G., Stгömmе, P., Hanefeld, F., and Wahlström, J., 1994, Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG I) to chromosome 16р and linkage dysequilibrium to microsatellite marker D165406, Hum. Mol. Genet. 3:2037–2042.

    PubMed  CAS  Google Scholar 

  • Matalon, R., Michals, K., Sebesta, D., Deanching, M., Gashkoff, P., and Casanova, J., 1988, Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease, Am. J. Med. Genet. 29:463–471.

    Article  PubMed  CAS  Google Scholar 

  • Matthews, P. M., Tampieri, D., Berkovic, S. F., Andermann, F., Silver, K., Chityat, D., and Arnold, D. L., 1991a, Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome, Neurology 41:1043–1046.

    Article  CAS  Google Scholar 

  • Matthews, P. M., Berkovic, S. F., Shoubridge, E. A., Andermann, F., Karpati, G., Carpenter, S., and Arnold, D. L., 199lb, In vivo magnetic resonance spectroscopy of brain and muscle in a type of mitochondrial encephalopathy (MERRF), Ann. Neural. 29:435–438.

    Article  Google Scholar 

  • Mehl, E., and Jatzkewitz, H., 1965, Evidence for the genetic black in metachromatic leukodystrophy (ML), Biochem. Biophys, Res. Commun. 19:407–411.

    Article  CAS  Google Scholar 

  • Merboldt, K. D., Chien, D., Hänicke, W., Gyngell, M. L., Bruhn, H., and Frahm, J., 1990, Localized 31Р-NМR spectroscopy of the adult human brain in viva using stimulated echo (STEAM) sequences, J. Magn. Reson. 89:343–361.

    Article  CAS  Google Scholar 

  • Merboldt, K. D., Bruhn, H., Hänicke, W., Michaelis, T., and Frahm, J., 1992, Decrease of glucose in the human visual cortex during photic stimulation, Magn. Reran. Med. 25:187–194.

    Article  CAS  Google Scholar 

  • Merzbacher, L., 1910, Eine eigenartige familiär-hereditäre Erkrankungsform (Aplasia axialis extra-corticalis congenita), Z. Gesamte Neural. Ps_ychiatr. 3:1–138.

    Article  Google Scholar 

  • Michaelis, T., Merboldt, K. D., Hänicke, W., Cyngell, M. L., Bruhn, H.. and Frahm, J., 1991, On the identification of cerebral metabolites in localized 1H-NMR spectra of human brain in vivo, NMR Biomed. 4:90–98.

    Article  PubMed  CAS  Google Scholar 

  • Michaelis, T., Helms, G., Merboldt, K. D., Hänicke, W., Bruhn, H., and Frahm, J., 1993A, Identification of scyMo-inositol in proton NMR spectra of human brain in vivo, NMR Biomed. 6:105–109.

    Article  CAS  Google Scholar 

  • Michaelis, T., Merboldt, K. D., Bruhn, H., Hänicke, W., and Frahm, J., 1993b, Absolute concentrations of metabolites in the adult human brain in vivo: Quantification of localized proton MR spectra, Radiology 187:219–227.

    CAS  Google Scholar 

  • Miller, B. L., Moats, R. A., Shonk, T., Ernst, T., Woolley, S., and Ross, B. D., 1993, Alzheimer disease: Depiction of increased cerebral myo-inositol with proton MR spectroscopy, Radiology 187:433–437.

    PubMed  CAS  Google Scholar 

  • Mosser, J., Douar, A. M., Sarde, C. O., Kioschis, P., Feil, R., Moser, R., Poustka, A. M., Mandel, J. L., and Aubourg, P., 1993, Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters, Nature (London) 361:726–730.

    Article  CAS  Google Scholar 

  • Nielsen, J. B., Toft, P. B., Reske-Nielsen, E., Jensen, K. E., Christiansen, P., Thomsen, C., Henriksen, O., and Lou, H. C., 1993, Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondria] disorder, Brain Dcv. 15:107–112.

    Article  CAS  Google Scholar 

  • Norton, W. T., and Poduslo, S. E., 1982, Biochemical studies of metachromatic leukodystrophy in three siblings, Acta Neuropathol. 57:188–196.

    Article  PubMed  CAS  Google Scholar 

  • Ochi, N., Kobayashi, K., Mehara, M., Nakayama, A., Negoro, T., Shinohara, H., Watanabe, K., Nagatsu, T., and Kato, K., 1991, Increment of a B-crystallin mRNA in the brain of a patient with infantile type Alexander’s disease, Biochem. Biophys. Res. Commun. 179:1030–1035.

    Article  PubMed  CAS  Google Scholar 

  • Ordidge, R. J., Bendall, M. R., Gordon, R. E., and Connelly, A., 1985, Volume selection for in-vivo biological spectroscopy, in “Magnetic Resonance in Biology and Medicine” (G. Govil, C. L. khetrapal, and A. Saran, eds.), p. 387, Tata McGraw-Hill, New Delhi.

    Google Scholar 

  • Peden, C. J., Cowan, F. M., Bryant, D. J., Sargentoni, J., Cox, I. J., Menon, D. K., Gadian, D. G., Bell, J. D., and Dubowitz, L. M., 1990, Proton MR spectroscopy of the brain in infants, Cornput. Assist. Tпmogr. 14:886–894.

    Article  CAS  Google Scholar 

  • Peeling, J., and Sutherland, G., 1993, 1H magnetic resonance spectroscopy of extracts of human epileptic neocortex and hippocampus, Neurology 43:589–594.

    Article  PubMed  CAS  Google Scholar 

  • Pelizaeus, E., 1885, Über eine eigentdmliche Form spastischer Lähmungen mit Cerebralerscheinungen auf hereditärer Grundlage, Arch. Psychiatr. 16:698–710.

    Article  Google Scholar 

  • Percy, A. K., Odrezin, G. T., Knowles, P. D., Rouah, E., and Armstrong, D. D., 1994, Globoid cell leukodystrophy: Comparison of neuropathology with magnetic resonance imaging, Acta Neuropathol. 88:26–32.

    Article  PubMed  CAS  Google Scholar 

  • Perry, T. L., Hansen, S., Berry, K., Mok, C., and Lesk, D., 1971, Free amino acids and related compounds in biopsies of human brain, J. Neurochem. 18:521–528.

    Article  PubMed  CAS  Google Scholar 

  • Perry, T. L., Hansen, S., and Gandham, S. S., 1981, Postmortem changes of amino compounds in human and rat brain, J. Neurochem. 36:407–412.

    Article  Google Scholar 

  • Petroff, O. A. C., Spencer, D. D., Alger, J. R., and Prichard, J. W., 1989, High-field proton magnetic resonance spectroscopy of human cerebrum obtained during surgery for epilepsy, Neurology 39:1197–1202.

    Article  PubMed  CAS  Google Scholar 

  • Polten, A., Fluharty, A. L., Fluharty, C. B., Kappler, J., von Figura, K., and Gieselmann, V., 1991, Molecular basis of different forms of metachromatic leukodystrophy, N. Engl. J. Med. 324:1822.

    Article  Google Scholar 

  • Pouwels, P. J. W., Hänicke, W., and Frahm, J., 1995a, On a concentration gradient of cerebral metabolites in human gray matter as determined by quantitative localized proton MRS, in “Book of Abstracts,” 3rd Annual Meeting, Society of Magnetic Resonance, Berkeley, California.

    Google Scholar 

  • Pouwels, P. J. W., Kruse, B., Hanefeld, F., and Frahm, J., 1995a, Quantitative localized proton MRS in adrenoleukodystrophy, Neuropediotrics, 26:341–341.

    Google Scholar 

  • Prichard, J. W., and Shulman, R. G., 1986, NMR spectroscopy of brain metabolism in vivo, Anna. Rev. Neurosci. 9:61–85.

    Article  CAS  Google Scholar 

  • Prichard, J., Rothman, D., Novotny, E., Petroff, O., Kuwabara, T., Avison, M., Howseman, A., Hanstock, C., and Shulman, R. G., 1992, Lactate rise detected by 1H NMR in human visual cortex during physiologic stimulation, Proc. Natl. Acad. Sci. USA 88:5829–5831.

    Article  Google Scholar 

  • Provencher, S. W., 1982, A constrained regularization method for inverting data represented by linear algebraic or integral equations, Comput. Phvs. Commun. 27:213–227.

    Article  Google Scholar 

  • Provencher, S. W., 1993, Estimation of metabolite concentrations from localized in vivo NMR spectra, Magn. Reson. Med. 30:672–679.

    Article  PubMed  CAS  Google Scholar 

  • Radda, G. K., 1986, The use of NMR spectroscopy for the understanding of disease, Science 233:640–645.

    Article  PubMed  CAS  Google Scholar 

  • Ramaeckers, V. T., Stibler, H., Kint, J., and Jaeken, J., 1991, A new variant of the carbohydrate-deficient glycoprotein syndrome, J. Inherited Metab. Dis. 14:385–388.

    Article  Google Scholar 

  • Requardt, М., 1995, Dissertation, University of Gottingen, Gottingen.

    Google Scholar 

  • Rett, A., 1966, Über em eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter, Wien. Med. Wochenschr. 116:723–726.

    PubMed  CAS  Google Scholar 

  • Rosenberg, R. N., Prusiner, S. B., DiMauro, S., Barchi, R. L., and Kunkel, L. M. (eds), 1993, “The Molecular Biology and Genetic Basis of Neurological Disease,” Butterworth-Heineman, Boston.

    Google Scholar 

  • Ross, B. D., and Michaelis, T., 1994, Clinical applications of magnetic resonance spectroscopy, Magn. Reson. Q. 10:191–248.

    PubMed  CAS  Google Scholar 

  • Sandhoff, K., Conzelmann, E., Neufeld, E. F., Kaback, M. M., and Suzuki, K., 1989, The GM2-gangliosidosis, in “The Metabolic Basis of Inherited Disease” (C. R. Striver, A. L. Beaudet, W. S. Sly, and D. Valle, eds.), pp. 1807–1839, McGraw-Hill, New York.

    Google Scholar 

  • Santavuori, P., Rapola, J., Nuutila, A., Raininko, R., Lappi, M., Launes, J., Herva, R., and Sainio, K.,1991, The spectrum of Jansky–Bielschowsky disease, Neuropediatrics 22:92–96.

    Article  PubMed  CAS  Google Scholar 

  • Sasaki, M., Sakuragawa, N., Takashima, S., Hanaoka, S., and Arima, M., 1991, MRI and CT findings in Krabbe disease, Pediatr. Neurol. 7:283–288.

    Article  PubMed  CAS  Google Scholar 

  • Scholz, W., 1925, klinische, pathologisch-anatomische and erbbiologische Untersuchungen bei fa- miliärer, diffuser Hirnsklerose im Kindesalter, Z. Gеsaтte Neurol. Psvchiatr. 99:651–717.

    Article  Google Scholar 

  • Schuster, V., Horwitz, A. E., and Kreth, H. W., 1991, Alexander’s disease: Cranial MRI and ultra-sound findings, Pediatr,Radiol. 21:133–134.

    Article  CAS  Google Scholar 

  • Seitelberger, F., 1970, Pelizaeus–Merzbacher disease, in “Handbook of Clinical Neurology, Vol. 10, Leucodystrophies and Poliodystrophies” (P. J. Vinken and G. W. Brown, eds.), pp. 150–202, North-Holland, Amsterdam.

    Google Scholar 

  • Sengers, R. C. A., Stadhouders, A. М., and Trijbels, J. М. F., 1984, Mitochondrial myopathies. Clinical, morphological, and biochemical aspects, Eur. J. Pediatr. 141:192–207.

    Article  PubMed  CAS  Google Scholar 

  • Sherman, W. R., Stewart, M. A., Kurien, M. M., and Goodwin, S. L., 1968, The measurement of,nvoinositol,,vo-inosose-2 and.scyllo-inositol in mammalian tissues, Biochirn. ßiophcs. Act“ 158:197–205.

    Article  CAS  Google Scholar 

  • Stibler, H., Westerberg, B., Hanefeld, F., and Hagberg, B., 1993, Carbohydrate-deficient glycoprotein (CDG) syndrome—a new variant type III, Neuropediatrics 24:51–52.

    Article  PubMed  CAS  Google Scholar 

  • Stöckler, S., Holzbach, U., Hanefeld, F., Marquardt, I., Helms, G., Requardt, M., Häinicke, W., and Frahm, J., 1994, Creatine deficiency in the brain: A new treatable inborn error of metabolism, Pediatr. Res. 36:409–413.

    Article  PubMed  Google Scholar 

  • Suzuki, K., Suzuki, Y., and Eto, Y., 1971, Deficiency of galactocerebroside (3-galactosidase in Krabbe’s globoid cell leukodystrophy, in “Lipid Storage Diseases: Enzymatic Defect and Clini- cal Implications” (J. Bersohn and H. J. Grossman, eds.), p. 396, Academic Press, New York.

    Google Scholar 

  • Toft, P. B., Leth, H., Lou, H. C., Pryds, O., and Henrikson, O., 1994, Metabolite concentrations in the developing brain estimated with water proton MR spectroscopy, J. Magn. Reson. Imaging 4:674–680.

    Article  PubMed  CAS  Google Scholar 

  • Tzika, A. A., Vigneron, D. B., Ball, W. S., Jr., Dunn, R. S., and Kirks, D. R., 1993a, Localized proton MR spectroscopy of the brain in children, J. Magn. Reson. Imaging 3:719–729.

    Article  CAS  Google Scholar 

  • Tzika, A. A., Ball, W. S., Jr., Vigneron, D. B., Dunn, R. S., and Kirks, D. R., 1993b, Clinical proton MR spectroscopy of neurodegenerative disease in childhood, Am. J. Neuroradiol 14:1267–1281.

    CAS  Google Scholar 

  • Uyama, E., Terasaki, T., Watanabe, S., Naito, M., Owada, M., Araki, S., and Ando, M., 1992, Type 3 GM’ gangliosidosis: Characteristic MRI findings correlated with dystonia, Acta Neurol. Scand. 86:609–615.

    Article  PubMed  CAS  Google Scholar 

  • Valk, J., and van der Knaap, M. S., 1989, “Magnetic Resonance of Myelin, Myelination, and Myelin Disorders,” Springer, Berlin.

    Google Scholar 

  • van Bogaer, L., and Bertrand, I., 1967, “Spongy Degeneration of the Brain in Infancy,” North-Holland, Amsterdam.

    Google Scholar 

  • van der Knaap, M. S., van der Grond, J., van Rijen, P. C., Faber, J. A., Valk, J., and Willemse, K., 1990, Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain, Radiology 176:509–515.

    PubMed  Google Scholar 

  • van der Knaap, M. S., van der Grond, J., Luyten, P. R., den Hollander, J. A., Nauta, J. P., and Valk, J., 1992, 1H and 31Р magnetic resonance spectroscopy of the brain in degenerative cerebral disorders, Ann. Neural. 31:202–211.

    Article  Google Scholar 

  • van der Knaap, M. S., Barth, P. G., Stroink, H., van Nieuwenhuizen, O., Arts, W. F. M., Hoogenraad, F., and Valk, J., 1995, Leukoencephalopathy with swelling and a discrepancy mild clinical course in eight children, Ann. Neurol. 37:324–334.

    Article  PubMed  Google Scholar 

  • von Graefe, A., 1866, Bemerkungen Ober doppelseitige Augenmuskеllähmungen basilären Ursprunges, Albrecht von Graefes Arch. Ophthalmol. 12:265.

    Google Scholar 

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  1. Biomedical NMR Research, Inc., Max-Planck-Institute for Biophysical Chemistry, D-37070, Göttingen, Germany

    Jens Frahm

  2. Department of Neuropediatrics, University of Göttingen, D-37075, Göttingen, Germany

    Folker Hanefeld

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  1. Jens Frahm
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  1. University of Nottingham, Nottingham, England

    Herman Bachelard

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Frahm, J., Hanefeld, F. (1997). Localized Proton Magnetic Resonance Spectroscopy of Brain Disorders in Childhood. In: Bachelard, H. (eds) Magnetic Resonance Spectroscopy and Imaging in Neurochemistry. Advances in Neurochemistry, vol 8. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5863-7_13

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