Journal of Inherited Metabolic Disease

, Volume 16, Issue 2, pp 230–232 | Cite as

Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: Diagnostic criteria and nomenclature

  • P. Santavuori
  • J. Rapola
  • R. Raininko
  • T. Autti
  • M. Lappi
  • A. Nuutila
  • J. Launes
  • K. Sainio
NCL Symposium — Definition Of Disease Entities

Keywords

Public Health Internal Medicine 

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References

  1. Autti T, Raininko R, Launes J, Nuutila A, Santavuori P (1992) Janksy-Bielschowsky variant: CT, MRI and SPECT findings.Pediatr Neurol 8: 121–126.Google Scholar
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  3. Kimura S, Goebel H (1987) Electronmicroscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.Brain Dev 9: 576–580.Google Scholar
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  5. Santavuori P, Rapola J, Sainio K, Raitta C (1982) A variant of Jansky-Bielschowsky disease.Neuropediatrics 13: 135–141.Google Scholar
  6. Santavuori P, Rapola J, Nuutila A et al (1991) The spectrum of Jansky-Bileschowsky disease.Neuropediatrics 22: 92–96.Google Scholar
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  8. Zeman W, Donahue S, Dyken P, Green J (1970) The neuronal ceroid-lipofuscionses (Batten-Vogt syndrome). In Vinken PJ, Bruyn GW, (eds.)Handbook of Clinical Neurology. Leucodystrophies and Poliodystrophies. Amsterdam: North-Holland,10: 588–679.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1993

Authors and Affiliations

  • P. Santavuori
    • 1
  • J. Rapola
    • 2
  • R. Raininko
    • 3
  • T. Autti
    • 1
  • M. Lappi
    • 1
  • A. Nuutila
    • 5
  • J. Launes
    • 4
  • K. Sainio
    • 1
  1. 1.Department of Child NeurologyUniversity of HelsinkiHelsinkiFinland
  2. 2.Department of PathologyUniversity of HelsinkiHelsinkiFinland
  3. 3.Department of RadiologyUniversity of HelsinkiHelsinkiFinland
  4. 4.Department of NeurologyUniversity of HelsinkiHelsinkiFinland
  5. 5.Pediatric UnitCentral Hospital of SeinäjokiFinland

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