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

International Journal of Psychiatry in Clinical Practice

Volumn 16, Issue 3, 2012, Pages 162-169

  Klünemann, Hans Hermann ^a   Santosh, Paramala J ^b   Sedel, Frédéric ^c  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Inborn errors of metabolism; Niemann Pick disease type C; organic psychosis

Indexed keywords

ATAXIN 3; CHITOTRIOSIDASE; CHOLINE; CURCUMIN; MEMBRANE PROTEIN; MIGLUSTAT; NONSTEROID ANTIINFLAMMATORY AGENT; PROTEIN NPC1; PROTEIN NPC2; UNCLASSIFIED DRUG;

ATAXIA; CEREBELLAR ATAXIA; CHOREA; DIARRHEA; DIFFUSION TENSOR IMAGING; DISEASE COURSE; DRUG EFFICACY; DYSARTHRIA; DYSPHAGIA; DYSTONIA; FLATULENCE; GASTROINTESTINAL SYMPTOM; GAZE PARALYSIS; GENE MUTATION; GENETIC SCREENING; HUMAN; LONG TERM CARE; NIEMANN PICK DISEASE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OXIDATIVE STRESS; PARKINSONISM; POSITRON EMISSION TOMOGRAPHY; PREVALENCE; PRIORITY JOURNAL; REVIEW; SIDE EFFECT; SKIN BIOPSY; SPLENOMEGALY; TREMOR; WEIGHT REDUCTION;

1-DEOXYNOJIRIMYCIN; AGE OF ONSET; ATAXIA; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; ENZYME INHIBITORS; GENETIC TESTING; HUMANS; MAGNETIC RESONANCE SPECTROSCOPY; NIEMANN-PICK DISEASE, TYPE C; OPHTHALMOPLEGIA; PREVALENCE; PSYCHOTIC DISORDERS; SPLENOMEGALY; TREATMENT OUTCOME;

EID: 84864920793     PISSN: 13651501     EISSN: 14711788     Source Type: Journal    
DOI: 10.3109/13651501.2012.687451     Document Type: Review

References (44)

1. Lauterbach MD, Stanislawski-Zygaj AL, Benjamin S. Thedifferential diagnosis of childhood- and young adult-onset disorders that include psychosis. J Neuropsychiatry Clin Neurosci 2008;20(4):409-18.
2. 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. (Pubitemid 47559874)
3. Saudubray JM, Sedel F, Walter J. Clinical approach to treatable inborn metabolic diseases: An introduction. J Inherit Metab Dis 2006;29(2):261-74. (Pubitemid 43880619)
4. Batzios SP, Zafeiriou DI. Developing treatment options for metachromatic leukodystrophy. Mol Gen Metab 2012;105(1):56-63.
5. Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009;98(1-2):152-65.
6. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003;64(4):269-81. (Pubitemid 37236127)
7. Patterson MC. A riddle wrapped in a mystery: Understanding Niemann-Pick disease, type C. Neurologist 2003;9(6):301-10. (Pubitemid 37484849)
8. 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.
9. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16.
10. Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick diseasetype C. Brain 2007;130(Part 1):120-33.
11. 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. (Pubitemid 36379385)
12. Klunemann HH, Elleder M, Kaminski WE, Snow K, Peyser JM, O"Brien JF, et al. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann Neurol 2002;52(6):743-9. (Pubitemid 35403183)
13. Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, et al. The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood. J Neuropsych Clin N 2006;18(2):158-70.
14. Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D.Saccades in adult Niemann-Pick disease type C refl ect frontal, brainstem, and biochemical defi cits. Neurology 2009;72(12): 1083-6.
15. Klarner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R. Neuropsychological profi le of adult patients with Niemann-Pick C1 (NPC1) mutations. J Inherit Metab Dis 2007;30(1):60-7. (Pubitemid 46140227)
16. 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.
17. Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, deMeulemeester TM, et al. The human chitotriosidase gene. J Biol Chem 1998;273(40):25680-5.
18. Bauer P, Boettcher T, Meyer W, Martus P, Weiss S, Oheim R, et al. 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.
19. 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. (Pubitemid 32774086)
20. 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. (Pubitemid 47238662)
21. Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, et al. 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.
22. Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, et al. 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.
23. Pineda M, Perez-Poyato MS, O"Callaghan M, Vilaseca MA, Pocovi M, Domingo R, et al. 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.
24. Patterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, et al. The effect of cholesterollowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology 1993;43(1):61-4. (Pubitemid 23035358)
25. 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. (Pubitemid 24158905)
26. Bonney D, O"Meara A, Shabani A, Imrie J, Bigger B, Jones S, et al. 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.
27. Patterson MC, Platt F. Therapy of Niemann-Pick disease, type C. Biochim Biophys Acta 2004;1685:77-82.
28. C houdhury A, Dominguez M, Puri V, Sharma DK, Narita K, Wheatley CL, et al. Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid traffi cking in Niemann-Pick C cells. J Clin Invest 2002; 109(12):1541-50. (Pubitemid 34663516)
29. 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. (Pubitemid 37287767)
30. Kaptzan T, West SA, Holicky EL, Wheatley CL, Marks DL, Wang T, et al. 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.
31. Smith D, Wallom KL, Williams IM, Jeyakumar M, Platt FM. Benefi cial effects of anti-infl ammatory therapy in a mouse model of Niemann-Pick disease type C1. Neurobiol Dis 2009;36(2):242-51.
32. Vite C, Mauldin E, Ward S, Stein V, Prociuk M, Haskins ME, et al. Intrathecal cyclodextrin therapy of feline Niemann-PickType C disease. Mol Genet Metabol 2011;102(2):S44.
33. Ramirez CM, Liu B, Taylor AM, Repa JJ, Burns DK, Weinberg AG, et al. 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.
34. Aqul A, Liu B, Ramirez CM, Pieper AA, Estill SJ, Burns DK, et al. Unesterifi ed 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.
35. Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, et al. Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One 2009;4(9):e6951.
36. Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 2008;14(11):1247-55.
37. Kumar A, Chugani HT. Niemann-Pick disease type C: Unique 2-deoxy-2(18F) fl uoro-d-glucose PET abnormality. Pediatr Neurol 2011;44(1):57-60 (Abstract).
38. Zaaraoui W, Crespy L, Rico A, Faivre A, Soulier E, Confort- Gouny S, et al. In vivo quantifi cation of brain injury in adult Niemann-Pick Disease Type C. Mol Genet Metabol 2011; 103(2):138-41.
39. Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, et al. White and gray matter alterations in adultswith Niemann-Pick disease type C. Neurology 2010;75(1): 49-56.
40. Galanaud D, Tourbah A, Lehericy S, Leveque N, Heron B, de Billette V, et al. 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.
41. Zhang JR, Coleman T, Langmade SJ, Scherrer DE, Lane L, Lanier MH, et al. Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol traffi cking. J Clin Invest 2008;118(6): 2281-90. (Pubitemid 351872345)
42. Tint GS, Pentchev P, Xu G, Batta AK, Shefer S, Salen G, et al. 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. (Pubitemid 28558682)
43. Reddy JV, Ganley IG, Pfeffer SR. Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profi ling. PLoS One 2006;1:e19.
44. Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, et al. Cholesterol oxidation products are sensitive and specifi c blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010;2(56):56-81.