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Proton MR Spectroscopy in Metabolic Disorders of the Central Nervous System

  • Chapter
Book cover MR Imaging in White Matter Diseases of the Brain and Spinal Cord

Part of the book series: Medical Radiology Diagnostic Imaging ((Med Radiol Diagn Imaging))

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Conclusions

Brain MRS provides chemical-pathological information that has the potential to improve both diagnostic classification and management of patients with metabolic disorders affecting the brain white matter. Metabolic indices provided by proton MRS and MRSI could be sensitive indicators of early neurological involvement, relevant to patients’ clinical status. A more extensive use of a combination of MR modalities including volumetric MRI, MRS and other nonconventional MR techniques might yield a more complete description of the dynamics responsible for pathological changes in this heterogeneous group of disorders and allow a more accurate evaluation of disease progression and response to therapy. A wider use of proton MRS techniques should be encouraged in clinical studies of patients with metabolic disorders.

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References

  • Arnold DL, Matthews PM (1996) Practical aspects of clinical applications of MRS in the brain. In: Young IR, Charles HC (eds) MR spectroscopy: clinical applications and techniques. Dunitz, London, pp 139–159

    Google Scholar 

  • Arnold DL, Matthews PM, Francis GS, O’Connor J, Antel JP (1992) Proton magnetic resonance spectroscopic imaging for metabolic characterization of demyelinating plaques. Ann Neurol 31:235–241

    Article  PubMed  CAS  Google Scholar 

  • Austin SJ, Connelly A, Gadian DG, Benton JS, Brett EM (1991) Localized 1H NMR spectroscopy in Canavan’s disease: a report of two cases. Magn Reson Med 19:439–445

    PubMed  CAS  Google Scholar 

  • Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede RL, Goebel HH et al (1987) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74:248–258

    Article  PubMed  CAS  Google Scholar 

  • Battisti C, Tarugi P, Dotti MT, De SN, Vattimo A, Chierichetti F et al (2003) Adult onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study. Mov Disord 18:1405–1409

    Article  PubMed  Google Scholar 

  • Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M et al (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52:227–231

    Article  PubMed  CAS  Google Scholar 

  • Bjartmar C, Battistuta J, Terada N, Dupree E, Trapp BD (2002) Nacetylaspartate is an axon-specific marker of mature white matter in vivo: a biochemical and immunohistochemical study on the rat optic nerve. Ann Neurol 51:51–58

    Article  PubMed  CAS  Google Scholar 

  • Bruhn H, Kruse B, Korenke GC, Hanefeld F, Hanicke W, Merboldt KD et al (1992) Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders. J Comput Assist Tomogr 16:335–344

    PubMed  CAS  Google Scholar 

  • Burgeois M, Goutieres F, Chretien D, Rustin P, Munnich A, 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

    PubMed  CAS  Google Scholar 

  • Coburn B (2004) A rare disorder, ethylmalonic encephalopathy, is caused by mutations in a mitochondrial protein. Clin Genet 65:460–462

    Google Scholar 

  • Davies SE, Newcombe J, Williams SR, McDonald WI, Clark JB (1995) High resolution proton NMR spectroscopy of multiple sclerosis lesions. J Neurochem 64:742–748

    PubMed  CAS  Google Scholar 

  • De Stefano N, Matthews PM, Antel JP, Preul M, Francis G, Arnold DL (1995a) Chemical pathology of acute demyelinating lesions and its correlation with disability. Ann Neurol 38:901–909

    PubMed  Google Scholar 

  • De Stefano N, Matthews PM, Arnold DL (1995b) Reversible decreases in N-acetylaspartate after acute brain injury. Magn Reson Med 34:721–727

    PubMed  Google Scholar 

  • De Stefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL (1995c) Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology 45:1193–1198

    PubMed  Google Scholar 

  • De Stefano N, Narayanan S, Matthews PM, Francis GS, Antel JP, Arnold DL (1999) In vivo evidence for axonal dysfunction remote from focal cerebral demyelination of the type seen in multiple sclerosis. Brain 122:1933–1939

    PubMed  Google Scholar 

  • De Stefano N, Dotti MT, Mortilla M, Pappagallo E, Luzi P, Rafi MA et al (2000a) Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease. J Neurol 247:226–228

    PubMed  Google Scholar 

  • De Stefano N, Narayanan S, Matthews PM, Mortilla M, Dotti MT, Federico A et al (2000b) Proton MR spectroscopy to assess axonal damage in multiple sclerosis and other white matter disorders. J Neurovirol 6[Suppl 2]:121–129

    Google Scholar 

  • De Stefano N, Dotti MT, Mortilla M, Federico A (2001) Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 124:121–131

    PubMed  Google Scholar 

  • Dotti MT, Manneschi L, Federico A (1995) Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis. J Neurol Sci 129:106–108

    Article  PubMed  CAS  Google Scholar 

  • Dubeau F, De SN, Zifkin BG, Arnold DL, Shoubridge EA (2000) Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann Neurol 47:179–185

    Article  PubMed  CAS  Google Scholar 

  • Federico A, Dotti MT, Volpi N (1991) Muscle mitochondrial changes in cerebrotendinous xanthomatosis (letter). Ann Neurol 30:734–735

    Article  PubMed  CAS  Google Scholar 

  • Fu L, Matthews PM, De Stefano N, Worsley KJ, Narayanan S, Francis GS et al (1998) Imaging axonal damage of normal-appearing white matter in multiple sclerosis. Brain 121:103–113

    Article  PubMed  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Grosso S, Balestri P, Mostardini R, Federico A, De SN (2004) Brain mitochondrial impairment in ethylmalonic encephalopathy. J Neurol 251:755–756

    Article  PubMed  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Jan W, Zimmerman RA, Wang ZJ, Berry GT, Kaplan PB, Kaye EM (2003) MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation. Neuroradiology 45:393–399

    Article  PubMed  Google Scholar 

  • Johannik K, Van Hecke P, Francois B, Marchal G, Smet MH, Jaeken J et al (1994) Localized brain proton NMR spectroscopy in young adult phenylketonuria patients. Magn Reson Med 31:53–57

    PubMed  CAS  Google Scholar 

  • Kolodny EH (1993) Dysmyelinating and demyelinating conditions in infancy (review). Curr Opin Neurol Neurosurg 6:379–386

    PubMed  CAS  Google Scholar 

  • Koopmans RA, Li DK, Zhu G, Allen PS, Penn A, Paty DW (1993) Magnetic resonance spectroscopy of multiple sclerosis: in-vivo detection of myelin breakdown products (letter). Lancet 341:631–632

    Article  PubMed  CAS  Google Scholar 

  • Kreis R, Pietz J, Penzien J, Herschkowitz N, Boesch C (1995) Identification and quantitation of phenylalanine in the brain of patients with phenylketonuria by means of localized in vivo 1H magnetic-resonance spectroscopy. J Magn Reson B 107:242–251

    PubMed  CAS  Google Scholar 

  • Kruse B, Barker PB, van Zijl PC, Duyn JH, Moonen CT, Moser HW (1994) Multislice proton magnetic resonance spectroscopic imaging in X-linked adrenoleukodystrophy. Ann Neurol 36:595–608

    Article  PubMed  CAS  Google Scholar 

  • Kruse B, Hanefeld F, Christen HJ, Bruhn H, Michaelis T, Hanicke W et al (1993) Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. J Neurol 241:68–74

    Article  PubMed  CAS  Google Scholar 

  • Leutner C, Layer G, Zierz S, Solymosi L, Dewes W, Reiser M (1994) Cerebral MR in ophthalmoplegia plus. AJNR Am J Neuroradiol 15:681–687

    PubMed  CAS  Google Scholar 

  • Martin E, Capone A, Schneider J, Hennig J, Thiel T (2001) Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy? Ann Neurol 49:518–521

    Article  PubMed  CAS  Google Scholar 

  • Matthews PM, Andermann F, Silver K, Karpati G, Arnold DL (1993) Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Neurology 43:2484–2490

    Google Scholar 

  • Matthews PM, de Stefano N, Narayanan S, Francis GS, Wolinsky JS, Antel JP et al (1998) Putting magnetic resonance spectroscopy studies in context: axonal damage and disability in multiple sclerosis. Semin Neurol 18:327–336

    Article  PubMed  CAS  Google Scholar 

  • Nakai A, Goto Y, Fujisawa K, Shigematsu Y, Kikawa Y, Konishi Y et al (1994) Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion. Lancet 343:1397–1398

    Article  PubMed  CAS  Google Scholar 

  • Narayana PA, Doyle TJ, Lai D, Wolinsky JS (1998) Serial proton magnetic resonance spectroscopic imaging, contrast-enhanced magnetic resonance imaging, and quantitative lesion volumetry in multiple sclerosis. Ann Neurol 43:56–71

    Article  PubMed  CAS  Google Scholar 

  • Petroff OA, Graham GD, Blamire AM, al-Rayess M, Rothman DL, Fayad PB et al (1992) Spectroscopic imaging of stroke in humans: histopathology correlates of spectral changes. Neurology 42:1349–1354

    PubMed  CAS  Google Scholar 

  • Pietz J, Lutz T, Zwygart K, Hoffmann GF, Ebinger F, Boesch C et al (2003) Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy. J Inherit Metab Dis 26:683–692

    Article  PubMed  CAS  Google Scholar 

  • Schiffmann R, van der Knaap MS (2004) The latest on leukodystrophies. Curr Opin Neurol 17:187–192

    Article  PubMed  CAS  Google Scholar 

  • Schulze A (2003) Creatine deficiency syndromes. Mol Cell Biochem 244:143–150

    Article  PubMed  CAS  Google Scholar 

  • Stockler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M et al (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36:409–413

    PubMed  CAS  Google Scholar 

  • Sylvain M, Arnold DL, Scriver CR, Schreiber R, Shevell MI (1994) Magnetic resonance spectroscopy in Neimann-Pick disease type C: correlation with diagnosis and clinical responce to cholestyramine and lovastatin. Pediatric Neurology 10:228–232

    Article  PubMed  CAS  Google Scholar 

  • Tedeschi G, Schiffmann R, Barton NW, Shih HH, Gospe SMJ, Brady RO et al (1995) Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. Neurology 45:1526–1532

    PubMed  CAS  Google Scholar 

  • Tzika AA, Ball WS Jr, Vigneron DB, Dunn RS, Nelson SJ, Kirks DR (1993) Childhood adrenoleukodystrophy: assessment with proton MR spectroscopy. Radiology 189:467–480

    PubMed  CAS  Google Scholar 

  • Van der Knaap MS (2001) Magnetic resonance in childhood white-matter disorders. Dev Med Child Neurol 43:705–712

    PubMed  Google Scholar 

  • Van der Knaap MS, Valk J, de Neeling N, Nauta JJ (1991) Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 33:478–493

    PubMed  Google Scholar 

  • Van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F et al (1995) Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37:324–334

    PubMed  Google Scholar 

  • Van der Knaap MS, Barth PG, Gabreels FJ, Franzoni E, Begeer JH, Stroink H et al (1997) A new leukoencephalopathy with vanishing white matter. Neurology 48:845–855

    PubMed  Google Scholar 

  • Van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF et al (1999) Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol 46:925–928

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology and Behavioral Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy

    Nicola De Stefano MD, PhD (Associate Professor)

  2. Department of Radiology, Children Hospital Anna Meyer, Florence, Italy

    Marzia Mortilla MD

Authors
  1. Nicola De Stefano MD, PhD
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  2. Marzia Mortilla MD
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Editor information

Editors and Affiliations

  1. Neuroimaging Research Unit Department of Neurology Scientific Institute, University Ospedale San Raffaele, Via Olgettina, 60, 20132, Milan, Italy

    Massimo Filippi MD (Director) (Director)

  2. Department of Neurology & Behavioral Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy

    Nicola De Stefano MD PhD (Associate Professor) (Associate Professor)

  3. Service de Neuroradiologie Diagnostique et Thérapeutique CHU Bordeaux Pellegrin and Laboratoire de Neurobiologie des Affections de la Myéline, Université Victor Segalen, Bourdeaux 2, 33076, Bordeaux, France

    Vincent Dousset MD, PhD (Professor) (Professor)

  4. Department of Electrical Engineering, United States Naval Academy, Maury Hall 227, Annapolis, MD, 21402-5025, USA

    Joseph C. McGowan PhD (Associate Professor of Electrical Engineering) (Associate Professor of Electrical Engineering)

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© 2005 Springer-Verlag Berlin Heidelberg

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De Stefano, N., Mortilla, M. (2005). Proton MR Spectroscopy in Metabolic Disorders of the Central Nervous System. In: Filippi, M., De Stefano, N., Dousset, V., McGowan, J.C. (eds) MR Imaging in White Matter Diseases of the Brain and Spinal Cord. Medical Radiology Diagnostic Imaging. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-27644-0_13

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  • DOI: https://doi.org/10.1007/3-540-27644-0_13

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-40230-5

  • Online ISBN: 978-3-540-27644-9

  • eBook Packages: MedicineMedicine (R0)

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