Skip to main content
SpringerLink
Log in

Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Elleder M, Cihula J (1983) Niemann- Pick Disease (Variation in the Sphingomyelinase Deficient Group) Eur J Pediatr 140:323–328

    Article  PubMed  CAS  Google Scholar 

  2. Mihaylova V, Hantke J, Sinigerska I, et al. (2007) Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation Brain 130 (Pt 4):1050–1061

    Article  PubMed  Google Scholar 

  3. Pavlu-Pereira H, Asfaw B, Poupetova H,et al. (2005) Acid sphingomyelinase deficiency.Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 28:203–227

    Article  PubMed  CAS  Google Scholar 

  4. Saidi P, Azizi S, Sarlati R, et al. (1970) Rare variant of lipid storage disorders. Blood 35(4):533–538

    PubMed  CAS  Google Scholar 

  5. Schuchman EH, Desnick RJ (2001) Niemann- Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, et al. (eds) The Metabolic Basis of Inherited Disease. 8th ed. New York, NY: McGraw- Hill, pp 3589–3610

  6. Sogawa H, Horino K, Nakamura F, et al. (1978) Chronic Niemann-Pick Disease with Sphingomyelinase Deficiency in Two Brothers with Mental Retardation Eur J Pediatr 128:235–240

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Dept. of Neurology, University Hospital “Alexandrovska”, “Luilin” bl. 519, vh. B, ap. 15, 1359, Sofia, Bulgaria

    V. Mihaylova, S. Cherninkova, M. Radionova, M. Raicheva & I. Tournev

  2. Centre for Medical Research and Western, Australian Institute for Medical Research, The University of Western Australia, Perth, Australia

    J. Hantke & L. Kalaydjieva

  3. Dept. of Psychiatry, University Hospital “Alexandrovska”, Sofia, Bulgaria

    S. Krastev

  4. Laboratory of Molecular Pathology, Sofia, Bulgaria

    I. Sinigerska

  5. Dept. of Pediatrics, Medical University Sofia, Sofia, Bulgaria

    H. Jelev

  6. Centre for Clinical Research in Neuropsychiatry, The University of Western Australia, Perth, Australia

    A. Jablensky

Authors
  1. V. Mihaylova
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. Hantke
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. S. Cherninkova
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Krastev
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. Radionova
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M. Raicheva
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. I. Sinigerska
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. H. Jelev
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. A. Jablensky
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. L. Kalaydjieva
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. I. Tournev
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to V. Mihaylova.

Additional information

L. Kalaydjieva and I. Tournev contributed equally to the work.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mihaylova, V., Hantke, J., Cherninkova, S. et al. Severe neuropsychiatric symptoms in two siblings with intermediate type of Niemann-Pick disease. J Neurol 255, 1434–1435 (2008). https://doi.org/10.1007/s00415-008-0953-0

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-008-0953-0

Keywords

Search

Navigation