Quantitative proton MRS of cerebral metabolites in laminin α2 chain deficiency

Brain and Development

Volumn 29, Issue 6, 2007, Pages 357-364

  Brockmann, Knut ^a   Dechent, Peter ^b   Bönnemann, Carsten ^a   Schreiber, Gudrun ^a   Frahm, Jens ^b   Hanefeld, Folker ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

Author keywords

Congenital muscular dystrophy; Laminin 2 chain; Leukoencephalopathy; MR spectroscopy

Indexed keywords

CHOLINE; CREATINE; CREATINE PHOSPHATE; LAMININ ALPHA2; N ACETYLASPARTIC ACID; N ACETYLASPARTYLGLUTAMIC ACID;

ARTICLE; ASTROCYTOSIS; BRAIN EDEMA; CASE REPORT; CELL DENSITY; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; GRAY MATTER; HUMAN; INFANT; MALE; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; WHITE MATTER;

ADOLESCENT; ASPARTIC ACID; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; CREATINE; DIPEPTIDES; HUMANS; INFANT; LAMININ; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUSCULAR DYSTROPHIES; PHOSPHOCREATINE; PROTONS;

EID: 34247584991     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2006.11.003     Document Type: Article

References (30)

1. Colognato H., and Yurchenco P.D. Form and function: the laminin family of heterotrimers. Dev Dyn 218 (2000) 213-234
2. Tome F.M., Evangelista T., Leclerc A., Sunada Y., Manole E., Estournet B., et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 317 (1994) 351-357
3. Helbling-Leclerc A., Zhang X., Topaloglu H., Cruaud C., Tesson F., Weissenbach J., et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11 (1995) 216-218
4. Voit T. Congenital muscular dystrophies: 1997 update. Brain Dev 20 (1998) 65-74
5. van der Knaap M.S., Smit L.M., Barth P.G., Catsman-Berrevoets C.E., Brouwer O.F., Begeer J.H., et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 42 (1997) 50-59
6. Sunada Y., Edgar T.S., Lotz B.P., Rust R.S., and Campbell K.P. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 45 (1995) 2084-2089
7. Philpot J., Cowan F., Pennock J., Sewry C., Dubowitz V., Bydder G., et al. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord 9 (1999) 81-85
8. Taratuto A.L., Lubieniecki F., Diaz D., Schultz M., Ruggieri V., Saccoliti M., et al. Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study. Neuromuscul Disord 9 (1999) 86-94
9. Jones K.J., Morgan G., Johnston H., Tobias V., Ouvrier R.A., Wilkinson I., et al. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review. J Med Genet 38 (2001) 649-657
10. Frahm J., Michaelis T., Merboldt K.D., Bruhn H., Gyngell M.L., and Hanicke W. Improvements in localized proton NMR spectroscopy of human brain. Water suppression, short echo times, and 1 ml resolution. J Magn Reson 90 (1990) 464-473
11. Provencher S.W. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 30 (1993) 672-679
12. Bjartmar C., Battistuta J., Terada N., Dupree E., and Trapp B.D. N-acetylaspartate is an axon-specific marker of mature white matter in vivo: A biochemical and immunohistochemical study on the rat optic nerve. Ann Neurol 51 (2002) 51-58
13. Urenjak J., Williams S.R., Gadian D.G., and Noble M. Proton nuclear magnetic resonance spectroscopy unambiguously identifies different neural cell types. J Neurosci 13 (1993) 981-989
14. Griffin J.L., Mann C.J., Scott J., Shoulders C.C., and Nicholson J.K. Choline containing metabolites during cell transfection: an insight into magnetic resonance spectroscopy detectable changes. FEBS Lett 509 (2001) 263-266
15. Brand A., Richter-Landsberg C., and Leibfritz D. Multinuclear NMR studies on the energy metabolism of glial and neuronal cells. Dev Neurosci 15 (1993) 289-298
16. Pouwels P.J., Brockmann K., Kruse B., Wilken B., Wick M., Hanefeld F., et al. Regional age dependence of human brain metabolites from infancy to adulthood as detected by quantitative localized proton MRS. Pediatr Res 46 (1999) 474-485
17. Frahm J., and Hanefeld F. Localized proton magnetic resonance spectroscopy of brain disorders in childhood. In: Bachelard H.S. (Ed). Magnetic resonance spectroscopy and imaging in neurochemistry (1997), Plenum, New York 329-402
18. Villanova M., Malandrini A., Sabatelli P., Sewry C.A., Toti P., Torelli S., et al. Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study. Acta Neuropathol (Berl) 94 (1997) 567-571
19. Caro P.A., Scavina M., Hoffman E., Pegoraro E., and Marks H.G. MR imaging findings in children with merosin-deficient congenital muscular dystrophy. Am J Neuroradiol 20 (1999) 324-326
20. Buttery P.C., and ffrench-Constant C. Laminin-2/integrin interactions enhance myelin membrane formation by oligodendrocytes. Mol Cell Neurosci 14 (1999) 199-212
21. Chun S.J., Rasband M.N., Sidman R.L., Habib A.A., and Vartanian T. Integrin-linked kinase is required for laminin-2-induced oligodendrocyte cell spreading and CNS myelination. J Cell Biol 163 (2003) 397-408
22. Egger J., Kendall B.E., Erdohazi M., Lake B.D., Wilson J., and Brett E.M. Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol 25 (1983) 32-42
23. Aslan M., Alkan A., Yakinci C., Sonmezgoz E., Bicak U., and Zorludemir S. Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings. Brain Dev 27 (2005) 308-310
24. Leite C.C., Reed U.C., Otaduy M.C., Lacerda M.T., Costa M.O., Ferreira L.G., et al. Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging. Radiology 235 (2005) 190-196
25. Hanefeld F.A., Brockmann K., Pouwels P.J., Wilken B., Frahm J., and Dechent P. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence for dys- and hypomyelination. Neurology 65 (2005) 701-706
26. van der Knaap M.S., Barth P.G., Stroink H., van Nieuwenhuizen O., Arts W.F., Hoogenraad F., et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Ann Neurol 37 (1995) 324-334
27. Leegwater P.A., Yuan B.Q., van der Steen J., Mulders J., Konst A.A., Boor P.K., et al. Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 68 (2001) 831-838
28. Brockmann K., Finsterbusch J., Terwey B., Frahm J., and Hanefeld F. Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 45 (2003) 137-142
29. van der Knaap M.S., Barth P.G., Vrensen G.F., and Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol (Berl) 92 (1996) 206-212
30. Baslow M.H. Brain N-acetylaspartate as a molecular water pump and its role in the etiology of Canavan disease: a mechanistic explanation. J Mol Neurosci 21 (2003) 185-190