290
Views
23
CrossRef citations to date
0
Altmetric
REVIEW ARTICLE

Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us

, &
Pages 162-169 | Received 31 Aug 2011, Accepted 22 Mar 2012, Published online: 03 Jul 2012

References

  • Lauterbach MD, Stanislawski-Zygaj AL, Benjamin S. The differential diagnosis of childhood- and young adult-onset disorders that include psychosis. J Neuropsychiatry Clin Neurosci 2008;20(4):409–18.
  • Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis 2007;30(5):631–41.
  • Saudubray JM, Sedel F, Walter J. Clinical approach to treatable inborn metabolic diseases: An introduction. J Inherit Metab Dis 2006;29(2):261–74.
  • Batzios SP, Zafeiriou DI. Developing treatment options for metachromatic leukodystrophy. Mol Gen Metab 2012;105(1):56–63.
  • Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, . Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98(1–2):152–65.
  • Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003;64(4):269–81.
  • Patterson MC. A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C. Neurologist 2003;9(6):301–10.
  • Staretz-Chacham O, Choi JH, Wakabayashi K, Lopez G, Sidransky E. Psychiatric and behavioral manifestations of lysosomal storage disorders. Am J Med Genet B Neuropsychiatr Genet 2010;153B(7):1253–65.
  • Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
  • Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, . The adult form of Niemann-Pick disease type C. Brain 2007;130(Part 1):120–33.
  • Josephs KA, Van Gerpen MW, Van Gerpen JA. Adult onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry 2003;74(4):528–9.
  • Klunemann HH, Elleder M, Kaminski WE, Snow K, Peyser JM, O'Brien JF, . Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann Neurol 2002;52(6):743–9.
  • Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, . The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood. J Neuropsych Clin N 2006;18(2):158–70.
  • Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D. Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology 2009;72(12): 1083–6.
  • Klarner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R. Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis 2007;30(1):60–7.
  • Hinton VJ, Vecchio D, Prady H, Wraith JE, Patterson MC. The cognitive phenotype of Niemann-Pick type C (NPC): neuropsychological characteristics of patients at baseline in a clinical trial with oral miglustat. ASHG Annual Meeting 2005. Abstract.
  • Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, . The human chitotriosidase gene. J Biol Chem 1998;273(40):25680–5.
  • Bauer P, Boettcher T, Meyer W, Martus P, Weiss S, Oheim R, . Niemann-Pick type C disease (NP-C) is a considerable diagnosis in juvenile and adult-onset psychiatric disorders. ASHG Annual Meeting 1449/W. 2008. Abstract.
  • Zervas M, Somers KL, Thrall MA, Walkley SU. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol 2001;11(16):1283–7.
  • Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765–72.
  • Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, . Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab 2010;99(4):351–7.
  • Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, . Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 2009;98(3):243–9.
  • Pineda M, Perez-Poyato MS, O'Callaghan M, Vilaseca MA, Pocovi M, Domingo R, . Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series. Mol Gen Metab 2010;99(4):358–66.
  • Patterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, . The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology 1993;43(1):61–4.
  • Sylvain M, Arnold DL, Scriver CR, Schreiber R, Shevell MI. Magnetic resonance spectroscopy in niemann-pick disease type C: Correlation with diagnosis and clinical response to cholestyramine and lovastatin. Pediatr Neurol 1994;10(3): 228–32.
  • Bonney D, O'Meara A, Shabani A, Imrie J, Bigger B, Jones S, . Successful allogeneic bone marrow transplant for Niemann-Pick disease type-2 is likely to be associated with a severe ‘graft versus substrate’ effect. J Inherit Metab Dis 2010;1–3.
  • Patterson MC, Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta 2004;1685:77–82.
  • Choudhury A, Dominguez M, Puri V, Sharma DK, Narita K, Wheatley CL, . Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells. J Clin Invest 2002;109(12):1541–50.
  • Walter M, Davies JP, Ioannou YA. Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes. J Lipid Res 2003;44(2):243–53.
  • Kaptzan T, West SA, Holicky EL, Wheatley CL, Marks DL, Wang T, . Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick Type C disease. AmJ Pathol 2009;174(1): 14–20.
  • Smith D, Wallom KL, Williams IM, Jeyakumar M, Platt FM. Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. Neurobiol Dis 2009;36(2):242–51.
  • Vite C, Mauldin E, Ward S, Stein V, Prociuk M, Haskins ME, . Intrathecal cyclodextrin therapy of feline Niemann-Pick Type C disease. Mol Genet Metabol 2011;102(2):S44.
  • Ramirez CM, Liu B, Taylor AM, Repa JJ, Burns DK, Weinberg AG, . Weekly cclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick Type C1 mouse and markedly prolongs life. Pediatr Res 2010;68(4):309–15.
  • Aqul A, Liu B, Ramirez CM, Pieper AA, Estill SJ, Burns DK, . Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment. J Neurosci 2011;31(25):9404–13.
  • Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, . Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 2009;4(9):e6951.
  • Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, . Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 2008;14(11):1247–55.
  • Kumar A, Chugani HT. Niemann-Pick disease type C: unique 2-deoxy-2(18F) fluoro-d-glucose PET abnormality. Pediatr Neurol 2011;44(1):57–60 (Abstract).
  • Zaaraoui W, Crespy L, Rico A, Faivre A, Soulier E, Confort-Gouny S, . In vivo quantification of brain injury in adult Niemann–Pick Disease Type C. Mol Genet Metabol 2011; 103(2):138–41.
  • Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, . White and gray matter alterations in adults with Niemann-Pick disease type C. Neurology 2010;75(1): 49–56.
  • Galanaud D, Tourbah A, Lehericy S, Leveque N, Heron B, de Billette V, . 24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy. Mol Genet Metab 2009;96(2): 55–8.
  • Zhang JR, Coleman T, Langmade SJ, Scherrer DE, Lane L, Lanier MH, . Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. J Clin Invest 2008;118(6): 2281–90.
  • Tint GS, Pentchev P, Xu G, Batta AK, Shefer S, Salen G, . Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J Inherit Metab Dis 1998;21(8):853–63.
  • Reddy JV, Ganley IG, Pfeffer SR. Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS One 2006;1:e19.
  • Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, . Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010;2(56):56–81.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.