Болезнь Нимана-Пика, тип С: взрослая форма с преобладанием психических расстройств

03.06.2013

ЛИТЕРАТУРА

1. Михайлова С.В., Захарова Е.Ю., Букина Т.М. и др. Болезнь Нимана-Пика тип С: клиника, диагностика и лечение. Педиатрическая фармакология 2010; 5: 48-53.

2. Руденская Г.Е., Захарова Е.Ю., Букина А.М. и др. Нейролипидозы с поздним началом. Мед генетика 2006; 5: 12-19.

3. Руденская Г.Е., Захарова Е.Ю., Букина Т.М. и др. Болезнь Нимана-Пика, тип С (ювенильный дистонический липидоз). Журн неврол и психиат 2008; 5: 76-79.

4. Battisti C, Tarugi P., Dotti M. et al. Adult onset Niemann-Pick type C disease: a clinical and molecular genetic study. Mov Disord 2003; 18: 1405-1409.

5. Campo J., Stowe R., Slomka G. et al. Psychosis as a presentation of physical disease in adolescence; a case of Niemann-Pick disease, type C. Devel Med Child Neurol 1998; 40: 126-129.

6. Galanaud D., Tourbah A., Lehericy S. 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: 55-58.

7. Garver W., Jelinek D., Meaney F. et al. The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res 2010; 51: 406-415.

8. Greer W., Dobson M., Girouard C. et al. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. Amer J Hum Genet 1999; 65: 1252-1260.

9. Fernandez-Valero E., Ballart A., Itturiaga C. et al. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations. Clin Genet 2005; 68: 245-254.

10. Hulette C, Earl N., Anthony D., Crain B. Adult-onset Niemann-Pick disease type C presenting with dementia and absent visceromegaly. Clin Neuropathol 1992; 11: 293-297.

11. Human Gene Mutation Database (HGMD), Cardiff; www.hgmd.cf.ac.uk

12. Imrie J., Vijayaraghaven S., Whitehouse C. et al. Niemann-Pick disease type C in adults. J Inherit Metab Dis 2002; 25: 491-500.

13. Imrie J., Dasgupta S., Besley G. et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007; 30: 51-59.

14. Josephs K., Van Gerpen M., Van Gerpen J. Adult-onset Niemann-Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiat 2003; 74: 528-529.

15. Klunemann H., Elleder M., Kaminski W. et al. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann Neurol 2002; 52: 743-749.

16. Macias-Vidal J., Rodriguez-Pascau L., Sanchez-Olle G. et al. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clin Genet 2010 Jul 6. [Epub ahead of print].

17. 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. Amer J Hum Genet 2001; 69: 1013-1021.

18. Niemann-Pick type C Disease Gene Variation Database; npc.fzk.de

19. Park W., O'Brien J., Lundquist P. et al. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-domain in NPC1. Hum Mutat 2003; 22: 313325.

20. Patterson M., Vanier M., Suzuki K. et al. Niemann-Pick disease type C: a lipid trafficking disorder. In; The metabolic and molecular bases of inherited disease. Ch. Scriver et al (Eds). N-Y etc: McGraw-Hill, 8th Ed. 2001; Vol. 3: 3611-3633.

21. Patterson M., Vecchio D., Prady H. et al. Miglustat for treatment of Niemann-Pick C disease: a randomized controlled study. Lancet Neurol 2007; 6: 765-772.

22. Pineda M., Wraith J., Mengel E. et al. Miglustat in patients with Niemann-Pick disease type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab 2009; 98: 243-249.

23. Sandu S., Jackowski-Dohrmann S., Ladner A. et al. Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry 2009; 18: 583-585.

24. Sevin M., Lesca G., Baumann N. et al. The adult form of Niemann-Pick disease type C. Brain 2007; 130: 120-133.

25. Shulman L., David N., Weiner W. Psychosis as initial manifestation of adultonset Niemann-Pick disease type C. Neurology 1995; 45: 1739-1743.

26. Sullivan D., Walterfang M., Velakoulis D. Bipolar disorder and Niemann-Pick disease type C. Amer J Psychiatry 2005; 16: 1021-1022.

27. Turpin J., Baumann N. Presenting psychiatric and cognitive disorders in adult neurolipidoses. Rev Neurol (Paris) 2003; 159: 637-647.

28. Tyvaert L., Stojkovic T., Cuisset J. et al. Troubles psychiatriques revelateurs d'une maladie de Niemann-Pick type C a l'age adulte. Rev Neurol (Paris) 2005; 161: 318-322.

29. Vanier M. Niemann-Pick disease type C. Orpanet J Rare Dis 2010; 5 www.ojrd.com

30. Verot L., Chikh K., Freydiere E. et al. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet 2007; 71: 320-330.

31. Walterfang M., Fietz M., Fahey M. et al. The neuropsychiatry of Niemann-Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci 2006; 18: 158-170.

32. Walterfang M., Fietz M., Abel L. et al. Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C. J Inherit Metab Dis 2009; 17 [Epub ahead of print].

33. Walterfang M., Fahey M., Desmond P. et al. White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. Neurology 2010; 75: 49-56.

34. Walterfang M., Kornberg A., Adams S. et al. Post-ictal psychosis in adolescent Niemann-Pick disease type C. J Inherit Metab Dis 2010; 13 [Epub ahead of print].

35. Wraith J., Vecchio D., Jacklin E. 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: 351-357.







Гостевая книга, нет комментариев




ВНИМАНИЕ: все комментарии от незарегистрированных пользователей размещаются после проверки!