MR Imaging and Proton MR Spectroscopic Studies in Sjögren-Larsson Syndrome: Characterization of the Leukoencephalopathy

References

1. ↵
   Sjögren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psych Neurol Scand 1957;32 suppl(113):1–113
2. ↵
   Jagell S, Gustavson KH, Holmgren G. Sjögren-Larsson syndrome in Sweden: a clinical, genetic and epidemiological study. Clin Genet 1981;19:233–256

   PubMedWeb of Science
3. ↵
   Van Domburg PHMF, Willemsen MAAP, Rotteveel JJ, et al. Sjögren-Larsson syndrome: clinical and MRI/MRS spectroscopy findings in FALDH deficient patients. Neurology 1999;52:1345–1352

   Abstract/FREE Full Text
4. Willemsen MAAP, Cruysberg JRM, Rotteveel JJ, Aandekerk AL, van Domburg PHMF, Deutman AF. Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome. Am J Ophthalmol 2000;130:782–789

   CrossRefPubMedWeb of Science
5. ↵
   Willemsen MAAP, IJlst L, Steijlen PM, et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome. Brain 2001;124:1426–1437

   Abstract/FREE Full Text
6. ↵
   Rizzo WB. Sjögren-Larsson syndrome: fatty aldehyde dehydrogenase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill;2001 :2239–2258
7. ↵
   Rizzo WB, Craft DA. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts. J Clin Invest 1991;88:1643–1648
8. ↵
   Kelson TL, Secor McVoy JR, Rizzo WB. Human liver fatty aldehyde dehydrogenase: microsomal localization, purification, and biochemical characterization. Biochim Biophys Acta 1997;1335:99–110

   PubMed
9. ↵
   James PF, Zoeller RA. Isolation of animal cell mutants defective in long-chain fatty aldehyde dehydrogenase. Sensitivity to fatty aldehydes and Schiff’s base modification of phospholipids: implications for Sjögren-Larsson syndrome. J Biol Chem 1997;272:23532–23539

   Abstract/FREE Full Text
10. ↵
    Verhoeven NM, Jakobs C, Carney G, Somers MP, Wanders RJA, Rizzo WB. Involvement of microsomal fatty aldehyde dehydrogenase in the α-oxidation of phytanic acid. FEBS Lett 1998;429:225–228

    CrossRefPubMedWeb of Science
11. ↵
    Rizzo WB, Craft DA. Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma. J Lipid Res 2000;41:1077–1081

    Abstract/FREE Full Text
12. Rizzo WB, Heinz E, Simon M, Craft DA. Microsomal fatty aldehyde dehydrogenase catalyzes the oxidation of aliphatic aldehyde derived from ether glycerolipid catabolism: implications for Sjögren-Larsson syndrome. Biochim Biophys Acta 2000;1535:1–9

    PubMed
13. ↵
    Willemsen MAAP, Rotteveel JJ, de Jong JGN, et al. Defective metabolism of leukotriene B₄ in the Sjögren-Larsson Syndrome. J Neurol Sci 2001;183:61–67

    CrossRefPubMedWeb of Science
14. ↵
    Di Rocco M, Filocamo M, Tortori-Donati P, Veneselli E, Borrone C, Rizzo WB. Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy. J Inher Metab Dis 1994;17:112–114

    PubMed
15. ↵
    Miyanomae Y, Ochi M, Yoshioka H, et al. Cerebral MR imaging and spectroscopy in Sjögren-Larsson syndrome: case report. Neuroradiology 1995;37:225–228

    PubMedWeb of Science
16. Hussain MZ, Aihara M, Oba H, et al. MR imaging of white matter changes in the Sjögren-Larsson syndrome. Neuroradiology 1995;37:576–577

    PubMed
17. ↵
    Phanthumchinda K, Srimanuthipol K, Yodnophaklao P. Sjögren-Larsson syndrome. J Med Assoc Thai 1996;79:541–544

    PubMed
18. ↵
    Van Mieghem F, van Goethem JWM, Parizel PM, et al. MR of the brain in Sjögren-Larsson syndrome. AJNR Am J Neuroradiol 1997;18:1561–1563

    Abstract
19. ↵
    Mano T, Ono J, Kaminaga T, et al. Proton MR spectroscopy of Sjogren-Larsson’s syndrome. AJNR Am J Neuroradiol 1999;20:1671–1673

    Abstract/FREE Full Text
20. ↵
    Altinok D, Yildiz YT, Seckin D, Altinok G, Tacal T, Eryilmaz M. MR imaging of three siblings with Sjogren-Larsson syndrome. Pediatr Radiol 1999;29:766–769

    CrossRefPubMedWeb of Science
21. ↵
    Bredmose GV. Et tilfaelde af mongoloid idioti og ichthyosis med neurohistologiske forandringer. Nord Med 1940;5:440–442
22. ↵
    Baar HS, Galindo J. Pathology of the Sjogren-Larsson syndrome. J Maine Med Assoc 1965;56:223–226

    PubMed
23. ↵
    Sylvester PE. Pathological findings in Sjögren-Larsson syndrome. J Ment Defic Res 1969;13:267–275

    PubMed
24. ↵
    Silva CA, Saraiva A, Goncalves V, de Sousa G, Martins R, Cruz C. Pathological findings in one of two siblings with Sjögren-Larsson syndrome. Eur Neurol 1980;19:166–170

    PubMed
25. ↵
    Wester P, Bergstrom U, Brun A, Jagell S, Karlsson B, Eriksson A. Monoaminergic dysfunction in Sjogren-Larsson syndrome. Mol Chem Neuropathol 1991;15:13–28

    PubMed
26. ↵
    Yamamoto T, Sekiya T, Sekine Y, Konishi E, Aoyama M, Takashima H. An autopsy case of Sjögren-Larsson syndrome with mental deficiency, ichthyosis, spastic diplegia and generalized hyperaminoaciduria. Adv Neurol Sci 1971;15:731–744
27. ↵
    McLennan JE, Gilles FH, Robb RM. Neuropathological correlation in Sjögren-Larsson syndrome: oligophrenia, ichthyosis and spasticity. Brain 1974;97:693–708

    FREE Full Text
28. ↵
    Yamaguchi K, Handa T. Sjögren-Larsson syndrome: postmortem brain abnormalities. Pediatr Neurol 1998;18:338–341

    PubMed
29. ↵
    Barkovich AJ, Kjos BO, Jackson DE, Norman D. Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T. Neuroradiology 1988;166:173–180
30. ↵
    Van der Knaap MS, Valk J. MR imaging of the various stages of myelination during the first year of life. Neuroradiology 1990;31:459–470

    CrossRefPubMedWeb of Science
31. ↵
    Gadian DG. NMR and its applications to living systems. Oxford: Oxford University Press;1995 :267–269
32. ↵
    Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672–679

    CrossRefPubMedWeb of Science
33. ↵
    Sylvain M, Arnold DL, Scriver CR, Schreiber R, Shevell MI. Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. Pediatr Neurol 1994;10:228–232

    CrossRefPubMedWeb of Science
34. ↵
    Viola A, Confort-Gouny S, Ranjeva JP, et al. MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 2002;23:480–483

    Abstract/FREE Full Text
35. ↵
    Rizzo WB. Inherited disorders of fatty alcohol metabolism. Mol Genet Metab 1998;65:63–73

    CrossRefPubMedWeb of Science
36. ↵
    Wolinsky JS, Narayana PA, Fenstermacher MJ. Proton magnetic resonance spectroscopy in multiple sclerosis. Neurology 1990;40:1764–1769

    Abstract/FREE Full Text
37. ↵
    Bruhn H, Kruse B, Korenke GC, et al. Proton NMR spectroscopy of cerebral alterations in infantile peroxisomal disorders. J Comput Assist Tomogr 1992;16:335–344

    PubMedWeb of Science
38. ↵
    Tzika AA, Ball WS, Vigneron DB, Dunn RS, Kirks DR. Clinical proton MR spectroscopy of neurodegenerative disease in childhood. AJNR Am J Neuroradiol 1993;14:1267–1281

    Abstract/FREE Full Text
39. ↵
    Jagell S. SLS or not SLS: Sjogren-Larsson syndrome. Pediatr Neurol 1998;19:399

    PubMed
40. ↵
    Willemsen MA, Lutt MA, Steijlen PM, et al. Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome. Eur J Pediatr 2001;160:711–717

    PubMed