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Metachromatic Leukodystrophy

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Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

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.

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References

  • Allen RJ, McCusker JJ, Tourtellotte WW (1962) Metachromatic leukodystrophy: Clinical, histochemical and cerebrospinal fluid abnormalities. Pediatrics 30: 629–638

    Google Scholar 

  • Aurebeck G, Osterberg K, Blaw M, Chou S, et al. (1964) Electron microscopic observations on metachromatic leukodystrophy. Arch Neurol 11: 273–288

    Article  PubMed  CAS  Google Scholar 

  • Austin J, Armstrong D, Fouch S, Mitchell C, et al. (1968) Metachromatic leukodystrophy ( MLD ). Arch Neurol 18: 225–240

    Google Scholar 

  • Austin J, Armstrong D, Shearer L, McAfee D (1966) Meta-chromatic form of diffuse cerebral sclerosis. Arch Neurol 14: 259–269

    Article  PubMed  CAS  Google Scholar 

  • Austin J, McAfee D, Shearer L (1965) Metachromatic form of diffuse cerebral sclerosis. Arch Neurol 12: 447–455

    Article  PubMed  CAS  Google Scholar 

  • Austin JH (1973) Studies in metachromatic leukodystrophy. Arch Neurol 28: 258–264

    Article  PubMed  CAS  Google Scholar 

  • Bass NH, Witmer EJ, Dreifuss FE (1970) A pedigree study of metachromatic leukodystrophy. Neurology 20: 52–62

    Article  PubMed  CAS  Google Scholar 

  • Beratis NG, Aron AM, Hirschhorn K (1973) Metachromatic leukodystrophy: Detection in serum. J Pediatr 83: 824–827

    Google Scholar 

  • Blom S, Hagberg B (1967) EEG findings in late infantile metachromatic and globoid cell leucodystrophy. Electroencephalogr Clin Neurophysiol 22: 253–259

    Article  PubMed  CAS  Google Scholar 

  • Bogaert Van L, Dewulf A (1939) Diffuse progressive leukodystrophy in the adult. Arch Neurol Psychiatry 42: 1083–1097

    Article  Google Scholar 

  • 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: 980–985

    Article  PubMed  Google Scholar 

  • 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: 311–318

    Article  PubMed  CAS  Google Scholar 

  • Farrell DF, MacMartin MP, Clark AF (1979) Multiple molecular forms of arylsulfatase A in different forms of meta-chromatic leukodystrophy ( MLD ). Neurology 29: 16–20

    Google Scholar 

  • 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: 371–382

    Google Scholar 

  • Fullerton PM (1964) Peripheral nerve conduction in meta-chromatic leucodystrophy (sulphatide lipidosis). J Neurol Neurosurg 27: 100–105

    Article  CAS  Google Scholar 

  • Greene HL, Hug G, Schubert WK (1969) Metachromatic leukodystrophy. Arch Neurol 20: 147–153

    Article  PubMed  CAS  Google Scholar 

  • Grégoire A, Périer O, Dustin P (1966) Metachromatic leukodystrophy an electron microscopic study. J Neuropathol Exp Neurol 25: 617–636

    Article  PubMed  Google Scholar 

  • Hahn AF, Gordon BA, Feleki V, Hinton GG, et al. (1982) A variant form of metachromatic leukodystrophy without arylsulfatase deficiency. Ann Neurol 12: 33–36

    Article  PubMed  CAS  Google Scholar 

  • Haltia T, Palo J, Haltia M, Icén A (1980) Juvenile metachromatic leukodystrophy. Arch Neurol 37: 42–46

    Article  PubMed  CAS  Google Scholar 

  • Hartmut P (1972) Late adult metachromatic leukodystrophy. Arch Neurol 27: 87–90

    Article  Google Scholar 

  • Jervis GA (1960) Infantile metachromatic leukodystrophy. J Neuropathol Exp Neurol 19: 323–341

    Article  PubMed  CAS  Google Scholar 

  • Kaback MM, Howell RR (1970) Infantile metachromatic leukodystrophy. N Engl J Med 282: 1336–1340

    Article  PubMed  CAS  Google Scholar 

  • Leroy JG, Eisen Van AF, Martin JJ, Dumon JE, et al. (1973) Infantile metachromatic leukodystrophy. N Engl J Med 288: 1365–1369

    Article  PubMed  CAS  Google Scholar 

  • Luyten JAFM (1979) Metachromatic leukodystrophy and age. A clinical, enzymological and ultrastructural study. A thesis. Utrecht: Elinkwyk.

    Google Scholar 

  • Malone MJ, Stoffyn P (1967) Peripheral nerve glycolipids in metachromatic leukodystrophy. Neurology 17: 1033–1040

    Article  PubMed  CAS  Google Scholar 

  • McKhann GM (1984) Metachromatic leukodystrophy: Clini- cal and enzymatic parameters. Neuropediatrics 15: 4–10

    Article  PubMed  Google Scholar 

  • Mehl E, Jatzkewitz H (1965) Evidence for the genetic block in metachromatic leucodystrophy ( ML ). Biochem Biophys Res Commun 19: 407–411

    Google Scholar 

  • Mei Liu H (1968) Ultrastructure of central nervous system lesions in metachromatic leukodystrophy with special reference to morphogenesis. J Neuropathol Exp Neurol 27: 624–644

    Article  PubMed  CAS  Google Scholar 

  • Melchior JC, Clausen J (1968) Metachromatic leucodystrophy in early childhood. Acta Paediat Scand 57: 2–8

    Article  PubMed  CAS  Google Scholar 

  • Moosa A, Dubowitz V (1971) Late infantile metachromatic leucodystrophy. Arch Dis Child 46: 381–383

    Article  PubMed  CAS  Google Scholar 

  • Norman RM, Urich H, Tingey H (1960) Metachromatic leu- co-encephalopathy: a form of lipidosis. Brain 83: 369–380

    Article  PubMed  CAS  Google Scholar 

  • Olsson Y, Sourander P (1969) The reliability of the diagnosis of metachromatic leucodystrophy by peripheral nerve biopsy. Acta Paediat Scand 58: 15–24

    Article  PubMed  CAS  Google Scholar 

  • Pilz H, Duensing I, Heipertz R, Seidel D, et al. (1977) Adult metachromatic leukodystrophy. Eur Neurol 15: 301–307

    Article  PubMed  CAS  Google Scholar 

  • Pilz H, Hopf HC (1972) A preclinical case of late adult metachromatic leukodystrophy? J Neurol Neurosurg Psychiatry 35: 360–364

    Article  PubMed  CAS  Google Scholar 

  • 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: 234–255

    Google Scholar 

  • Raghavan SS, Gajewski A, Kolodny EH (1981) Leukocyte sulfatidase for the reliable diagnosis of metachromatic leukodystrophy. J Neurochem 36: 724–731

    Article  Google Scholar 

  • Résibois-Grégoire A (1967) Electron microscopic studies of metachromatic leucodystrophy. Acta Neuropathol 9: 244–253

    Article  PubMed  Google Scholar 

  • Seidel D, Heipertz R, Goebel HH, Duensing I, et al. (1980) Adult metachromatic leukodystrophy. Eur Neurol 19: 288–293

    Article  PubMed  CAS  Google Scholar 

  • Shapiro U, Aleck KA, Kaback MM, Itabashi H, et al. (1979) Metachromatic leukodystrophy without arylsulfatase a deficiency. Pediatr Res 13: 1179–1180

    Article  PubMed  CAS  Google Scholar 

  • Stevens RL, Fluharty AL, Kihara H, Kaback MM, et al. (1981) Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet 33: 900–906

    PubMed  CAS  Google Scholar 

  • Stumpf D, Austin J (1971) Metachromatic leukodystrophy ( MLD ). Arch Neurol 24: 117–125

    Google Scholar 

  • Thieffry MMS, Lyon G (1959) Diagnostic d’un cas de leucodystrophie métachromatique par la biopsie d’un nerf périphérique. Rev Neurol 100: 452–456

    PubMed  CAS  Google Scholar 

  • 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: 508–516

    Google Scholar 

  • Turpin JC, Bergondi CI, Haldar H, Dubois G (1977) Observation exceptionnelle dans une famille atteinte de leucodystrophie métachromatique. Nouv Press Med 6: 1373–1379

    CAS  Google Scholar 

  • Wolfe HJ, Pietra GG (1964) The visceral lesions of metachromatic leukodystrophy. Am J Pathol 44: 921–930

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Diagnostic Radiology and Neuroradiology, Free University Hospital, De Boelelaan 1117, NL-1007 MB, Amsterdam, The Netherlands

    Professor Dr. Jacob Valk

  2. Department of Child Neurology, Academic Hospital, Catharijnesingel 101, NL-3511 GV, Utrecht, The Netherlands

    Dr. Marjo S. van der Knaap

Authors
  1. Professor Dr. Jacob Valk
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  2. Dr. Marjo S. van der Knaap
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© 1989 Springer-Verlag Berlin Heidelberg

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Valk, J., van der Knaap, M.S. (1989). Metachromatic Leukodystrophy. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02568-0_7

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  • DOI: https://doi.org/10.1007/978-3-662-02568-0_7

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02570-3

  • Online ISBN: 978-3-662-02568-0

  • eBook Packages: Springer Book Archive

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