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Journal of Inherited Metabolic Disease

, Volume 32, Supplement 1, pp 221–226 | Cite as

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C

  • M. Walterfang
  • M. Fietz
  • L. Abel
  • E. Bowman
  • R. Mocellin
  • D. Velakoulis
SHORT REPORT

Summary

We describe the differential presentation of schizophrenia-like psychosis in two siblings with the ‘variant’ biochemical presentation of adult Niemann-Pick disease type C. The male sibling presented with psychosis at age 16 years and cognitive and motor disturbance at age 25 years, whereas his elder sister, sharing the same mutation but showing less severe biochemical, neuroimaging and ocular motor parameters, presented with a similar schizophrenia-like illness with associated cognitive and motor disturbance at age 31 years. Their illness onset, course and response to treatment mirrors the sex dimorphism seen in schizophrenia, and is suggestive of an interaction between the neurobiology of their metabolic disorder and sex differences in neurodevelopment.

Keywords

Schizophrenia Olanzapine Metachromatic Leukodystrophy Sevin Persecutive Delusion 
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.

Abbreviation

NPC

Niemann-Pick disease type C

References

  1. Abel LA, Walterfang M, Fietz M, Bowman E, Velakoulis D (2009) Saccades in adult Niemann-Pick type C reflect frontal, brainstem and biochemical deficits. Neurology 72(12): 1083–1086.PubMedCrossRefGoogle Scholar
  2. Bartzokis G. (2002) Schizophrenia: breakdown in the well-regulated lifelong process of brain development and maturation. Neuropsychopharmacology 27: 672–683. doi: 10.1016/S0893-133X(02)00364-0 PubMedCrossRefGoogle Scholar
  3. Benes FM (1989) Myelination of cortical hippocampal relays during late adolescence. Schizophr Bull 15: 585–593.PubMedCrossRefGoogle Scholar
  4. Cummings JJ. (1996) Organic psychosis. Psychosomatics 29(1): 16–26.CrossRefGoogle Scholar
  5. Dickson RA, Seeman MV, Corenblum B (2000) Hormonal side effects in women: typical vs atypical antipsychotic treatment. J Clin Psychiatry 61(Supplement 3): 10–15.PubMedGoogle Scholar
  6. Hafner H. (2003) Gender differences in schizophrenia. Psychoneuroendocrinology 28: 17–54. doi: 10.1016/S0306-4530(02)00125-7 PubMedCrossRefGoogle Scholar
  7. Halbreich U, Kahn LS (2003) Hormonal aspects of schizophrenias: an overview. Psychoneuroendocrinology 28(Supplement 2): S1–16.Google Scholar
  8. Hyde T, Casanova M, Kleinman J, Weinberger D (1991) Neuroanatomical and neurochemical pathology in schizophrenia. In: Tasman A, ed. American Psychiatric Press Review of Psychiatry. Vol 10. Washington DC: APPA Press, 275–281.Google Scholar
  9. Kaptzan T, West S, Holicky E, et al (2009) Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease. Am J Pathol 174: 14–20. doi: 10.2353/ajpath.2009.080660 PubMedCrossRefGoogle Scholar
  10. Kraepelin E (1919) Dementia Praecox and Paraphrenia. New York: Krieger.Google Scholar
  11. Millat G, Marçais C, Tomasetto C, et al (2001) Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Med Genet 68(6): 1373–1385.Google Scholar
  12. Ribeiro I, Marcao A, Amaral O, Sa Miranda M, Vanier M, Millat G (2001) Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet 109: 24–32. doi: 10.1007/s004390100531 PubMedCrossRefGoogle Scholar
  13. Roff CF, Pastuszyn A, Strauss JF 3rd, et al (1992) Deficiencies in sex-regulated expression and levels of two hepatic sterol carrier proteins in a murine model of Niemann-Pick type C disease. J Biol Chem 267: 15902–15908.PubMedGoogle Scholar
  14. Roff CF, Strauss JF 3rd, Goldin E, et al (1993) The murine Niemann-Pick type C lesion affects testosterone production. Endocrinology 133(6): 2913–2923.PubMedCrossRefGoogle Scholar
  15. Sevin M, Lesca G, Baumann N, et al (2007) The adult form of Niemann-Pick disease type C. Brain 130(1): 120–133. doi: 10.1093/brain/awl260 PubMedCrossRefGoogle Scholar
  16. Vanier MT, Millat G (2003) Niemann-Pick disease type C. Clin Genet 64: 269–281. doi: 10.1034/j.1399-0004.2003.00147.x PubMedCrossRefGoogle Scholar
  17. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991a) Typc C Niemann Pick disease: biochemical aspects and phenotypic heterogeneity. Dev Neurosci 13: 307–314. doi: 10.1159/000112178 PubMedCrossRefGoogle Scholar
  18. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991b) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096: 328–337.PubMedCrossRefGoogle Scholar
  19. Võikar V, Rauvala H, Ikonen E (2002) Cognitive deficit and development of motor impairment in a mouse model of Niemann-Pick type C disease. Behav Brain Res 132: 1–10. doi: 10.1016/S0166-4328(01)00380-1 PubMedCrossRefGoogle Scholar
  20. Walterfang M, Velakoulis D (2009) Storage diseases and psychosis. In: Keshavan M, Sachdev P, eds. Secondary Schizophrenias. Cambridge University Press.Google Scholar
  21. Walterfang M, Fietz M, Fahey M, et al (2006) The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 18: 158–170. doi: 10.1176/appi.neuropsych.18.2.158 PubMedCrossRefGoogle Scholar
  22. Weinberger DR (1987) Implications of normal brain development for the pathogenesis of schizophrenia. Arch Gen Psychiatry 44: 660–669.PubMedCrossRefGoogle Scholar
  23. Yamamoto T, Ninomiya H, Matsumoto M, et al (2000) Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts. J Med Genet 37: 707–712. doi: 10.1136/jmg.37.9.707 PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • M. Walterfang
    • 1
  • M. Fietz
    • 2
  • L. Abel
    • 3
  • E. Bowman
    • 3
  • R. Mocellin
    • 1
  • D. Velakoulis
    • 1
  1. 1.Neuropsychiatry UnitRoyal Melbourne HospitalMelbourneAustralia
  2. 2.Department of Chemical PathologyWomen’s and Children’s HospitalAdelaideAustralia
  3. 3.Department of Optometry and Vision SciencesUniversity of MelbourneMelbourneAustralia

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