Pediatric Neurology
Volume 29, Issue 3 , Pages 242-244 , September 2003

Niemann-pick type C disease associated with peripheral neuropathy

  • Dimitrios I Zafeiriou, MD, PhD

      Affiliations

    • First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece
    • Corresponding Author InformationCommunications should be addressed to: Dr. Zafeiriou; Child Neurologist; Egnatia St. 106; 54622 Thessaloniki, Greece.
    • ,
  • Panagiota Triantafyllou, MD

      Affiliations

    • First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece
    • ,
  • Nikolaos P Gombakis, MD, PhD

      Affiliations

    • First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece
    • ,
  • Euthymia Vargiami, MD, PhD

      Affiliations

    • First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece
    • ,
  • Chaido Tsantali, MD, PhD

      Affiliations

    • First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece
    • ,
  • Eleni Michelakaki, MD, PhD

      Affiliations

    • First Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece

Received 2 May 2002 ,Accepted 20 March 2003.

References 

  1. Kolodny EH. Niemann-Pick disease. Curr Opin Hematol. 2000;7:48–52
  2. Natowicz MR, Stoler JM, Prence EM, Liscum L. Marked heterogeneity in Niemann-Pick disease, type C (Clinical and ultrastructural findings). Clin Pediatr (Phila). 1995;34:190–197
  3. Cruz JC, Sugii S, Yu C, Chang TY. Role of Niemann-Pick type C1 protein in intracellular trafficking of low density lipoprotein-derived cholesterol. J Biol Chem. 2000;275:4013–4021
  4. Naureckiene S, Sleat DE, Lackland H, et al.  Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000;290:2298–2301
  5. Imrie J, Wraith JE. Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C. Arch Dis Child. 2001;84:427–429
  6. Lengyel D, Weissert M, Schmid L, Gottlob I. Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C. Klin Monatsbl Augenheilkd. 1999;214:50–52
  7. Manolaki N, Christomanou E, Drogari E, Bania D, Lagona E. Niemann-Pick type C disease. Pediatriki (Greek). 1998;61:78–83
  8. Marks HG, Spencer D, Sweet BA, Argoff CE. Peripheral nervous system involvement in new variant of Niemann-Pick disease type C. Ann Neurol. 1990;28:435

    (Abstract)

  9. Hahn AF, Gilbert JJ, Kwarciak C, et al.  Nerve biopsy findings in Niemann-Pick type II (NP-C). Acta Neuropathol. 1994;87:149–154
  10. Alvelious G, Hjalmarson O, Griffiths WJ, Bjorkhem I, Sjovall J. Identification of unusual 7-oxygenated bile acid sulfates in a patient with Niemann-Pick disease, type C. J Lipid Res. 2001;42:1571–1577
  11. Vanier M. (personal communication)
  12. Castea ED, Morris JA, Coleman KG, et al.  Niemann-Pick C1 disease gene (Homology to mediators of cholesterol homeostasis). Science. 1997;277:228–231
  13. Marx J. Disease genes clarify cholesterol trafficking. Science. 2000;290:2227–2229
  14. Bauer P, Knoblich R, Bauer C, et al.  NPC1 (Complete genomic sequence, mutation analysis, and characterization of haplotypes). Hum Mutat. 2002;19:30–38
  15. Millat G, Chikh K, Naureckiene S, et al.  Niemann-Pick disease type C (Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group). Am J Hum Genet. 2001;69:1013–1021
  16. Ioannou YA. The structure and function of the Niemann-Pick C1 protein. Mol Genet Metab. 2000;71:175–181

PII: S0887-8994(03)00219-4

doi: 10.1016/S0887-8994(03)00219-4

Pediatric Neurology
Volume 29, Issue 3 , Pages 242-244 , September 2003

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