Advertisement

Metachromatic Leukodystrophy

  • Jacob Valk
  • Marjo S. van der Knaap

Abstract

Metachromatic leukodystrophy (MLD) comprises a group of progressive white matter disorders with autosomal recessive inheritance. The disease can be divided into 4 different subtypes: the congenital, the late infantile, the juvenile and the adult variant. This subdivision is based on the age of onset, the duration, and the clinical picture of the disease. The clinically different forms of MLD are also gentically different. Within one family only one variant of MLD occurs.

Keywords

White Matter Myelin Sheath Basal Nucleus Metachromatic Leukodystrophy Steroid Sulfate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Allen RJ, McCusker JJ, Tourtellotte WW (1962) Metachromatic leukodystrophy: Clinical, histochemical and cerebrospinal fluid abnormalities. Pediatrics 30: 629–638Google Scholar
  2. Aurebeck G, Osterberg K, Blaw M, Chou S, et al. (1964) Electron microscopic observations on metachromatic leukodystrophy. Arch Neurol 11: 273–288PubMedCrossRefGoogle Scholar
  3. Austin J, Armstrong D, Fouch S, Mitchell C, et al. (1968) Metachromatic leukodystrophy ( MLD ). Arch Neurol 18: 225–240Google Scholar
  4. Austin J, Armstrong D, Shearer L, McAfee D (1966) Meta-chromatic form of diffuse cerebral sclerosis. Arch Neurol 14: 259–269PubMedCrossRefGoogle Scholar
  5. Austin J, McAfee D, Shearer L (1965) Metachromatic form of diffuse cerebral sclerosis. Arch Neurol 12: 447–455PubMedCrossRefGoogle Scholar
  6. Austin JH (1973) Studies in metachromatic leukodystrophy. Arch Neurol 28: 258–264PubMedCrossRefGoogle Scholar
  7. Bass NH, Witmer EJ, Dreifuss FE (1970) A pedigree study of metachromatic leukodystrophy. Neurology 20: 52–62PubMedCrossRefGoogle Scholar
  8. Beratis NG, Aron AM, Hirschhorn K (1973) Metachromatic leukodystrophy: Detection in serum. J Pediatr 83: 824–827Google Scholar
  9. Blom S, Hagberg B (1967) EEG findings in late infantile metachromatic and globoid cell leucodystrophy. Electroencephalogr Clin Neurophysiol 22: 253–259PubMedCrossRefGoogle Scholar
  10. Bogaert Van L, Dewulf A (1939) Diffuse progressive leukodystrophy in the adult. Arch Neurol Psychiatry 42: 1083–1097CrossRefGoogle Scholar
  11. Brown III FR, Shimizu H, McDonald JM, Moser AB, et al. (1981) Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy. Neurology 31: 980–985PubMedCrossRefGoogle Scholar
  12. Dayan AD (1967) Peripheral neuropathy of metachromatic leukodystrophy: Observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J Neurol Neurosurg Psychiatry 30: 311–318PubMedCrossRefGoogle Scholar
  13. Farrell DF, MacMartin MP, Clark AF (1979) Multiple molecular forms of arylsulfatase A in different forms of meta-chromatic leukodystrophy ( MLD ). Neurology 29: 16–20Google Scholar
  14. Figura von K, Steckel F, Conary J, Hasilik A, et al. (1986) Heterogeneity in late-onset metachromatic leukodystrophy. Effect of inhibitors of cysteine proteinases. Am J Hum Genet 39: 371–382Google Scholar
  15. Fullerton PM (1964) Peripheral nerve conduction in meta-chromatic leucodystrophy (sulphatide lipidosis). J Neurol Neurosurg 27: 100–105CrossRefGoogle Scholar
  16. Greene HL, Hug G, Schubert WK (1969) Metachromatic leukodystrophy. Arch Neurol 20: 147–153PubMedCrossRefGoogle Scholar
  17. Grégoire A, Périer O, Dustin P (1966) Metachromatic leukodystrophy an electron microscopic study. J Neuropathol Exp Neurol 25: 617–636PubMedCrossRefGoogle Scholar
  18. Hahn AF, Gordon BA, Feleki V, Hinton GG, et al. (1982) A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. Ann Neurol 12: 33–36PubMedCrossRefGoogle Scholar
  19. Haltia T, Palo J, Haltia M, Icén A (1980) Juvenile metachromatic leukodystrophy. Arch Neurol 37: 42–46PubMedCrossRefGoogle Scholar
  20. Hartmut P (1972) Late adult metachromatic leukodystrophy. Arch Neurol 27: 87–90CrossRefGoogle Scholar
  21. Jervis GA (1960) Infantile metachromatic leukodystrophy. J Neuropathol Exp Neurol 19: 323–341PubMedCrossRefGoogle Scholar
  22. Kaback MM, Howell RR (1970) Infantile metachromatic leukodystrophy. N Engl J Med 282: 1336–1340PubMedCrossRefGoogle Scholar
  23. Leroy JG, Eisen Van AF, Martin JJ, Dumon JE, et al. (1973) Infantile metachromatic leukodystrophy. N Engl J Med 288: 1365–1369PubMedCrossRefGoogle Scholar
  24. Luyten JAFM (1979) Metachromatic leukodystrophy and age. A clinical, enzymological and ultrastructural study. A thesis. Utrecht: Elinkwyk.Google Scholar
  25. Malone MJ, Stoffyn P (1967) Peripheral nerve glycolipids in metachromatic leukodystrophy. Neurology 17: 1033–1040PubMedCrossRefGoogle Scholar
  26. McKhann GM (1984) Metachromatic leukodystrophy: Clini- cal and enzymatic parameters. Neuropediatrics 15: 4–10PubMedCrossRefGoogle Scholar
  27. Mehl E, Jatzkewitz H (1965) Evidence for the genetic block in metachromatic leucodystrophy ( ML ). Biochem Biophys Res Commun 19: 407–411Google Scholar
  28. Mei Liu H (1968) Ultrastructure of central nervous system lesions in metachromatic leukodystrophy with special reference to morphogenesis. J Neuropathol Exp Neurol 27: 624–644PubMedCrossRefGoogle Scholar
  29. Melchior JC, Clausen J (1968) Metachromatic leucodystrophy in early childhood. Acta Paediat Scand 57: 2–8PubMedCrossRefGoogle Scholar
  30. Moosa A, Dubowitz V (1971) Late infantile metachromatic leucodystrophy. Arch Dis Child 46: 381–383PubMedCrossRefGoogle Scholar
  31. Norman RM, Urich H, Tingey H (1960) Metachromatic leu- co-encephalopathy: a form of lipidosis. Brain 83: 369–380PubMedCrossRefGoogle Scholar
  32. Olsson Y, Sourander P (1969) The reliability of the diagnosis of metachromatic leucodystrophy by peripheral nerve biopsy. Acta Paediat Scand 58: 15–24PubMedCrossRefGoogle Scholar
  33. Pilz H, Duensing I, Heipertz R, Seidel D, et al. (1977) Adult metachromatic leukodystrophy. Eur Neurol 15: 301–307PubMedCrossRefGoogle Scholar
  34. Pilz H, Hopf HC (1972) A preclinical case of late adult metachromatic leukodystrophy? J Neurol Neurosurg Psychiatry 35: 360–364PubMedCrossRefGoogle Scholar
  35. Pilz H, Paul HA, Müller D, Volles E, et al. (1971) Meta-chromatische leukodystrophie (Sulfatid-lipidose) im Erwachsenenalter: Intravitale Diagnose zweier Fälle unter dem klinischen Bild eines präsenilen hirnatrophischen Prozesses. Z Neurol 199: 234–255Google Scholar
  36. Raghavan SS, Gajewski A, Kolodny EH (1981) Leukocyte sulfatidase for the reliable diagnosis of metachromatic leukodystrophy. J Neurochem 36: 724–731CrossRefGoogle Scholar
  37. Résibois-Grégoire A (1967) Electron microscopic studies of metachromatic leucodystrophy. Acta Neuropathol 9: 244–253PubMedCrossRefGoogle Scholar
  38. Seidel D, Heipertz R, Goebel HH, Duensing I, et al. (1980) Adult metachromatic leukodystrophy. Eur Neurol 19: 288–293PubMedCrossRefGoogle Scholar
  39. Shapiro U, Aleck KA, Kaback MM, Itabashi H, et al. (1979) Metachromatic leukodystrophy without arylsulfatase a deficiency. Pediatr Res 13: 1179–1180PubMedCrossRefGoogle Scholar
  40. Stevens RL, Fluharty AL, Kihara H, Kaback MM, et al. (1981) Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet 33: 900–906PubMedGoogle Scholar
  41. Stumpf D, Austin J (1971) Metachromatic leukodystrophy ( MLD ). Arch Neurol 24: 117–125Google Scholar
  42. Thieffry MMS, Lyon G (1959) Diagnostic d’un cas de leucodystrophie métachromatique par la biopsie d’un nerf périphérique. Rev Neurol 100: 452–456PubMedGoogle Scholar
  43. Thieffry MMS, Lyon G, Aicardi J, Chaumont P, et al. (1964) L’atteinte du système nerveux péeriphérique dans la leucodystrophie métachromatique. Signes cliniques et électriques. Rev Neurol 110: 508–516Google Scholar
  44. Turpin JC, Bergondi CI, Haldar H, Dubois G (1977) Observation exceptionnelle dans une famille atteinte de leucodystrophie métachromatique. Nouv Press Med 6: 1373–1379Google Scholar
  45. Wolfe HJ, Pietra GG (1964) The visceral lesions of metachromatic leukodystrophy. Am J Pathol 44: 921–930PubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

Personalised recommendations