Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat

European Journal of Paediatric Neurology

Volumn 15, Issue 1, 2011, Pages 84-87

  Zarowski, Marcin ^a   Steinborn, Barbara ^a   Gurda, Barbara ^a   Dvorakova, Lenka ^b   Vlaskova, Hana ^b   Kothare, Sanjeev V ^c  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cataplexy; Children; Miglustat; Niemann Pick type C

Indexed keywords

CHOLESTEROL; MIGLUSTAT; UNCLASSIFIED DRUG; UNESTERIFIED CHOLESTEROL;

ARTICLE; CASE REPORT; CATAPLEXY; CHILD; FLUORESCENCE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MEDICAL HISTORY; NIEMANN PICK DISEASE; NPC1 GENE; PRIORITY JOURNAL; SCHOOL CHILD; SKIN CULTURE; TREATMENT OUTCOME;

1-DEOXYNOJIRIMYCIN; CATAPLEXY; CHILD; ENZYME INHIBITORS; HUMANS; MALE; NIEMANN-PICK DISEASE, TYPE C;

EID: 78651347457     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2010.02.001     Document Type: Article

References (40)

1. W.S. Garver, G.A. Francis, and D. Jelinek The National Niemann-Pick C1 Disease Database: report of clinical features and health problems Am J Med Genet 143A 11 2007 1204 1211
2. W.S. Garver, D. Jelinek, and F.J. Meaney The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes J Lipid Res 2009
3. J. Imrie, S. Dasgupta, and G.T. Besley The natural history of Niemann-Pick disease type C in the UK J Inherit Metab Dis 30 1 2007 51 59
4. M.T. Vanier, and G. Millat Niemann-Pick disease type C Clin Genet 64 4 2003 269 281
5. J.E. Wraith, M.R. Baumgartner, and B. Bembi Recommendations on the diagnosis and management of Niemann-Pick disease type C Mol Genet Metab 98 1-2 2009 152 165
6. D.A. Kelly, B. Portmann, A.P. Mowat, S. Sherlock, and B.D. Lake Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease J Pediatr 123 2 1993 242 247
7. W.D. Grover, and J.L. Naiman Progressive paresis of vertical gaze in lipid storage disease Neurology 21 9 1971 896 899
8. K.G. Rottach, R.D. von Maydell, and V.E. Das Evidence for independent feedback control of horizontal and vertical saccades from Niemann-Pick type C disease Vision Res 37 24 1997 3627 3638
9. M. Pineda, J.E. Wraith, and E. Mengel Miglustat in patients with Niemann-Pick disease type C (NP-C): a multicenter observational retrospective cohort study Mol Genet Metab 2009
10. M.C. Patterson, D. Vecchio, H. Prady, L. Abel, and J.E. Wraith Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study Lancet Neurol 6 9 2007 765 772
11. S.J. Steinberg, C.P. Ward, and A.H. Fensom Complementation studies in Niemann-Pick disease type C indicate the existence of a second group J Med Genet 31 4 1994 317 320
12. C. Guilleminault, and R. Pelayo Narcolepsy in children: a practical guide to its diagnosis, treatment and follow-up Paediatr Drugs 2 1 2000 1 9
13. S. Nevsimalova Narcolepsy in childhood Sleep Med Rev 13 2 2009 169 180
14. T.E. Scammell The neurobiology, diagnosis, and treatment of narcolepsy Ann Neurol 53 2 2003 154 166
15. S.V. Kothare, and J. Kaleyias Narcolepsy and other hypersomnias in children Curr Opin Pediatr 20 6 2008 666 675
16. P.C. Peterson, and A.M. Husain Pediatric narcolepsy Brain Dev 30 10 2008 609 623
17. J.M. Siegel, K.S. Tomaszewski, and R.L. Wheeler Behavioral organization of reticular formation: studies in the unrestrained cat. II. Cells related to facial movements J Neurophysiol 50 3 1983 717 723
18. J.M. Siegel, R. Nienhuis, and H.M. Fahringer Neuronal activity in narcolepsy: identification of cataplexy-related cells in the medial medulla Science 252 5010 1991 1315 1318
19. E.F. Pace-Schott, and J.A. Hobson The neurobiology of sleep: genetics, cellular physiology and subcortical networks Nat Rev Neurosci 3 8 2002 591 605
20. L. Serra, P. Montagna, E. Mignot, E. Lugaresi, and G. Plazzi Cataplexy features in childhood narcolepsy Mov Disord 23 6 2008 858 865
21. M.S. Wise, and J. Lynch Narcolepsy in children Semin Pediatr Neurol 8 4 2001 198 206
22. R.S. Kandt, R.G. Emerson, H.S. Singer, D.L. Valle, and H.W. Moser Cataplexy in variant forms of Niemann-Pick disease Ann Neurol 12 3 1982 284 288
23. J.D. Parkes Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome J Sleep Res 8 Suppl. 1 1999 14 22
24. J.E. Martinez-Rodriguez, L. Lin, and A. Iranzo Decreased hypocretin-1 (Orexin-A) levels in the cerebrospinal fluid of patients with myotonic dystrophy and excessive daytime sleepiness Sleep 26 3 2003 287 290
25. E. Frenette, and C.A. Kushida Primary hypersomnias of central origin Semin Neurol 29 4 2009 354 367
26. R. Poryazova, M. Siccoli, E. Werth, and C.L. Bassetti Unusually prolonged rebound cataplexy after withdrawal of fluoxetine Neurology 65 6 2005 967 968
27. Y. Dauvilliers, M. Billiard, and J. Montplaisir Clinical aspects and pathophysiology of narcolepsy Clin Neurophysiol 114 11 2003 2000 2017
28. S. Overeem, E. Mignot, J.G. van Dijk, and G.J. Lammers Narcolepsy: clinical features, new pathophysiologic insights, and future perspectives J Clin Neurophysiol 18 2 2001 78 105
29. M.J. Thorpy Cataplexy associated with narcolepsy: epidemiology, pathophysiology and management CNS Drugs 20 1 2006 43 50
30. N. Langdon, J. Shindler, J.D. Parkes, and S. Bandak Fluoxetine in the treatment of cataplexy Sleep 9 2 1986 371 373
31. L.S. Smit, G.J. Lammers, and C.E. Catsman-Berrevoets Cataplexy leading to the diagnosis of Niemann-Pick disease type C Pediatr Neurol 35 1 2006 82 84
32. N. Havaligi, C. Matadeen-Ali, D.S. Khurana, H. Marks, and S.V. Kothare Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate Pediatr Neurol 37 5 2007 373 374
33. J. Vankova, I. Stepanova, and R. Jech Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C Sleep 26 4 2003 427 430
34. T. Cox, R. Lachmann, and C. Hollak Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis Lancet 355 9214 2000 1481 1485
35. M. Zervas, K.L. Somers, M.A. Thrall, and S.U. Walkley Critical role for glycosphingolipids in Niemann-Pick disease type C Curr Biol 11 16 2001 1283 1287
36. M. Zervas, K. Dobrenis, and S.U. Walkley Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations J Neuropathol Exp Neurol 60 1 2001 49 64
37. R.H. Lachmann, D. te Vruchte, and E. Lloyd-Evans Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C Neurobiol Dis 16 3 2004 654 658
38. C.S. Chen, M.C. Patterson, C.L. Wheatley, J.F. O'Brien, and R.E. Pagano Broad screening test for sphingolipid-storage diseases Lancet 354 9182 1999 901 905
39. M.C. Patterson, D. Vecchio, and E. Jacklin Long-term miglustat therapy in children with Niemann-Pick Disease type C J Child Neurol 2009
40. Miglustat (EU) summary of product characteristics 2009 EMEA http://www.emea.europa.eu/humandocs/PDFs/EPAR/zavesca/H-435-PI-en.pdf