Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations

References

1. 1.↵
   1. Kim TS,
   2. Kim IO,
   3. Kim WS,
   4. et al

   . MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol 1997;18:733–38

   Abstract/FREE Full Text
2. 2.↵
   1. Faerber EN,
   2. Melvin J,
   3. Smergel EM

   . MRI appearances of metachromatic leukodystrophy. Pediatr Radiol 1999;29:669–72

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Loes DJ,
   2. Hite S,
   3. Moser H,
   4. et al

   . Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol 1994;15:1761–66

   Abstract/FREE Full Text
4. 4.↵
   1. Scriver CR,
   2. Sly WS,
   3. Childs A

   1. von Figura K,
   2. Giselmann V,
   3. Jaeken J

   . Metachromatic leukodystrophy. In: Scriver CR, Sly WS, Childs A eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw Hill; 2000:3695–3724
5. 5.↵
   1. Biffi A,
   2. Cesani M,
   3. Fumagalli F,
   4. et al

   . Metachromatic leukodystrophy: mutation analysis provides further evidence of genotype-phenotype correlation. Clin Genet 2008;74:349–57. Epub 2008 Sep 11

   CrossRefPubMedWeb of Science
6. 6.↵
   1. van der Voorn JP,
   2. Pouwels PJ,
   3. Kamphort W,
   4. et al

   . Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. AJNR Am J Neuroradiol 2005;26:442–46

   Abstract/FREE Full Text
7. 7.↵
   1. Chabas D,
   2. Castillo-Trivino T,
   3. Mowry EM,
   4. et al

   . Vanishing MS T2-bright lesions before puberty: a distinct MRI phenotype? Neurology 2008;71;1090–03

   Abstract/FREE Full Text
8. 8.↵
   1. Eichler F,
   2. Mahmood A,
   3. Loes D,
   4. et al

   . Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Arch Neurol 2007;64:659–64

   CrossRefPubMedWeb of Science
9. 9.↵
   1. Loes DJ,
   2. Peters C,
   3. Krivit W

   . Globoid cell leukodystrophy: distinguishing early-onset from late-onset disease using a brain MR imaging scoring method. AJNR Am J Neuroradiol 1999;20:316–23

   Abstract/FREE Full Text
10. 10.↵
    1. Toldo I,
    2. Carollo C,
    3. Battistella PA,
    4. et al

    . Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report. Neuroradiology, 2005;47:572–5. Epub 2005 Jul 15

    CrossRefPubMedWeb of Science
11. 11.↵
    1. Haberlandt E,
    2. Scholl-Burgi S,
    3. Meuberger J,
    4. et al

    . Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy. Eur J Paediatr Neurol 2009;13257–60. Epub 2008 Jun 20
12. 12.↵
    1. Comabella M,
    2. Wayne JJ,
    3. Raquer N,
    4. et al

    . Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G–>A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. Ann Neurol 2001;50:108–12

    CrossRefPubMedWeb of Science
13. 13.↵
    1. Kruse B,
    2. Hanefeld F,
    3. Christen HJ,
    4. et al

    . Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo. J Neurol 1993;241:68–74

    CrossRefPubMedWeb of Science