Литература

1. 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.
2. 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.
3. Chien Y., Lee N., Tsai L. et al. Treatment of Niemann – Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J Inherit Metab Dis Online 2007.
4. Federico A., Palmeri S., Van Diggelen O. et al. Juvenile dystonia without vertical gaze paralysis: Niemann-Pick type C disease. J Inherit Metab Dis 1986; 9: Suppl 2: 314-316.
5. Fensom A., Grant A., Steinberg S. et al. Case report: an adult with a non-neuronopathic form of Niemann-Pick C disease. J Inherit Metab Dis 1999; 22: 84-86.
6. 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.
7. Grau A., Brandt T.., Weisbrod M. et al. Adult Niemann – Pick type C disease mimicking features of multiple sclerosis. J Neurol Neurosurg Psychiat 1997; 63: 552-553.
8. http://www.hgmd.cf.ac.uk HGMD (Human Gene Mutation Database, Cardiff)
9. 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.
10. Imrie J., Wraith J. Isolated splenomegaly as a presenting feature of Niemann-Pick disease type C. Arch Dis Child 2001; 84: 427-429.
11. Imrie J., Vijayaraghaven S., Whitehouse C. et al. Niemann – Pick disease type C in adults. J Inherit Metab Dis 2002; 25: 491-500.
12. 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.
13. 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.
14. 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.
15. Lengyel D., Weissert M., Schmidt L., Gottlob I. Eye movement abnormalities as a sign for the diagnosis in Niemann-Pick disease type C. Klin Monatsbl Augenheilkd 1999; 214: 50-52.
16. Lossos A., Schlesinger I., Okon E. et al. Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic study. Arch Neurol 1997; 54: 1536-1541.
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. Am J Hum Genet 2001; 69: 1013-1021.
18. 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: 313-325.
19. Patterson M., Vanier M., Suzuki K. et al. Niemann-Pick disease type C: a lipid trafficking disorder. The metabolic and molecular bases of inherited disease. Ch. Scriver et al. (ed.). N-Y etc: McGraw-Hill, 8th Ed. 2001; 3: 3611-3633.
20. 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.
21. Schneider A., Stichling F., Hoffmann M. et al. Hepatosplenomegaly and progressive neurological symptoms – late manifestations of Niemann-Pick disease type C, a case report. Z Gastroenterol 2001; 39: 971-974.
22. Shulman L., David N., Weiner W. Psychosis as initial manifestation of adult-onset Niemann – Pick disease type C. Neurology 1995; 45: 1739-1743.
23. Stell R., Bronstein A. Eye movement abnormalities in extrapyramidal disorders. Movement disorders 3. Marsden C., Fahn S. (eds.). Oxford: Butterworth-Heinemann 1994: 88-116.
24. Turpin J., Baumann N. Presenting psychiatric and cognitive disorders in adult neurolipidoses. Rev Neurol 2003; 159: 637-647.
25. Vanier M., Millat G. Niemann-Pick disease type C. Clin Genet 2003; 64: 269-281.
26. 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.
27. Yatziv S., Leibovitz-Ben Gershon Z., Ornoy A., Bach G. Clinical heterogeneity in a sibship with Niemann-Pick disease type C. Clin Genet 1983; 23: 125-131.
28. Zafeiriou D., Triantafyllou P., Gommbakis N. et al. Niemann-Pick type C disease associated with peripheral neuropathy. Pediat Neurol 2003; 29: 242-244.