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A Case of Metachromatic Leukodystrophy Confirmed by Molecular Genetic Analysis

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초록

Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of the enzyme arylsulfatase A resulting in a deficiency of sulfatide degradation and the target gene is ARSA gene. We report a case of the late infantile form of MLD that was confirmed by means of enzyme assay and gene analysis with typical brain MRI and MR spectroscopy finding.

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참고문헌 (13)

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  4. Biffi A, "Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation", Clin Genet, 74, pp.349~357 (2008)
  5. MacFaul R, "Metachromatic leucodystrophy: review of 38 cases", Arch Dis Child, 57, pp.168~175 (1982)
  6. Lugowska A, "Mutations c.459+1G > A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries", Mol Genet Metab, 86, pp.353~359 (2005)
  7. Kumperscak HG, "Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs", Psychiatr Genet, 17, pp.85~91 (2007)
  8. Zafeiriou DI, "Neurophysiology and MRI in late-infantile metachromatic leukodystrophy", Pediatr Neurol, 21, pp.843~846 (1999)
  9. Kim TS, "MR of childhood metachromatic leukodystrophy", AJNR Am J Neuroradiol, 18, pp.733~738 (1997)
  10. Kruse B, "Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo", J Neurol, 241, pp.68~74 (1993)
  11. Berger J, "Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy", Am J Med Genet, 69, pp.335~340 (1997)
  12. Polten A, "Molecular basis of different forms of metachromatic leukodystrophy", N Engl J Med, 324, pp.18~22 (1991)
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