ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v9i6.520ppharm-270Research ArticleРЕДКИЕ БОЛЕЗНИRARE DISEASESРЕКОМЕНДАЦИИ ПО ДИАГНОСТИКЕ И ТАКТИКЕ ВЕДЕНИЯ БОЛЕЗНИ НИМАННА–ПИКА ТИП СRECOMMENDATIONS ON DIAGNOSTICS AND TACTICS OF MANAGEMENT OF NIEMANN-PICK DISEASE, TYPE CКузенковаЛ. М.KuzenkovaL. M.
доктор медицинских наук, профессор, заведующая отделением психоневрологии Научного центра здоровья детей РАМН
neonatepearl@yandex.ruНамазова-БарановаЛ. С.Namazova-BaranovaL. S.namazova@nczd.ruГеворкянА. К.GevorkyanA. K.neonatepearl@yandex.ruПодклетноваТ. В.PodkletnovaT. V.neonatepearl@yandex.ruМамедъяровА. М.MamedyarovA. M.neonatepearl@yandex.ruНаучный центр здоровья детей РАМН, Москва, Российская Федерация
Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian FederationRussian FederationНаучный центр здоровья детей РАМН, Москва, Российская Федерация
Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская Федерация
Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва,
Российская ФедерацияScientific Center of Children’s Health, Moscow, Russian Federation
I.M. Sechenov First Moscow State Medical University, Russian Federation
N.I. Pirogov Russian National Research Medical University, Moscow, Russian FederationНаучный центр здоровья детей РАМН, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian FederationRussian Federation20120212201296Педиатрическая фармакология6170Copyright © Кузенкова Л.М., Намазова-Баранова Л.С., Геворкян А.К., Подклетнова Т.В., Мамедъяров А.М., 20122012Кузенкова Л.М., Намазова-Баранова Л.С., Геворкян А.К., Подклетнова Т.В., Мамедъяров А.М.Kuzenkova L.M., Namazova-Baranova L.S., Gevorkyan A.K., Podkletnova T.V., Mamedyarov A.M.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/270болезнь Ниманна–Пика тип Сопределениедиагностикаклинические формыпроявленияпрогрессированиелечениепрогноздетиNiemann-Pick diseasetype Cdetectiondiagnosticsclinical formsmanifestationsprogressiontreatmentprognosischildrenReferencesWraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topcu M., Vanier M. T., Widner H., Wijburg F. A., Patterson M. C. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Molecular Genetics and Metabolism. 2009; 98: 152–165.Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topcu M., Vanier M. T., Widner H., Wijburg F. A., Patterson M. C. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Molecular Genetics and Metabolism. 2009; 98: 152–165.Poorthuis B. J., Wevers R. A., Kleijer W. J., Groener J. E., de Jong J. G., van Weely S., Niezen-Koning K. E., van Diggelen O. P. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999; 105: 151–156.Poorthuis B. J., Wevers R. A., Kleijer W. J., Groener J. E., de Jong J. G., van Weely S., Niezen-Koning K. E., van Diggelen O. P. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999; 105: 151–156.Meikle P. J., Hopwood J. J., Clague A. E., Carey W. F. Prevalence of lysosomal storage disorders. JAMA. 1999; 281: 249–254.Meikle P. J., Hopwood J. J., Clague A. E., Carey W. F. Prevalence of lysosomal storage disorders. JAMA. 1999; 281: 249–254.Pinto R., Caseiro C., Lemos M., Lopes L., Fontes A., Ribeiro H., Pinto E., Silva E., Rocha S., Marcao A., Ribeiro I., Lacerda L., Ribeiro G., Amaral O., Sa Miranda M. C. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004; 12: 87–92.Pinto R., Caseiro C., Lemos M., Lopes L., Fontes A., Ribeiro H., Pinto E., Silva E., Rocha S., Marcao A., Ribeiro I., Lacerda L., Ribeiro G., Amaral O., Sa Miranda M. C. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004; 12: 87–92.Л. С. Намазова-Баранова, Л. С. Высоцкая, А. М. Мамедъя ров, Т. В. Маргиева, Н. Д. Вашакмадзе, А. К. Геворкян. Болезнь Ниманна–Пика тип С — путь к эффективной терапии через своевременную диагностику. Pediatric pharmacology. 2011; 8 (6): 114–118.Л. С. Намазова-Баранова, Л. С. Высоцкая, А. М. Мамедъя ров, Т. В. Маргиева, Н. Д. Вашакмадзе, А. К. Геворкян. Болезнь Ниманна–Пика тип С — путь к эффективной терапии через своевременную диагностику. Pediatric pharmacology. 2011; 8 (6): 114–118.Vanier M. T. Niemann–Pick disease type C. Orphanet J Rare Dis. 2010; 5: 16.Vanier M. T. Niemann–Pick disease type C. Orphanet J Rare Dis. 2010; 5: 16.Winsor E. J., Welch J. P. Genetic and demographic aspects of Nova Scotia Niemann–Pick disease (type D). Am J Hum Genet. 1978; 30: 530–538.Winsor E. J., Welch J. P. Genetic and demographic aspects of Nova Scotia Niemann–Pick disease (type D). Am J Hum Genet. 1978; 30: 530–538.Patterson M. C., Vanier M. T., Suzuki K., Morris J. A., Carstea E., Neufeld E. B., Blanchette-Mackie J. E., Pentchev P. G. Niemann–Pick disease type C: a lipid trafficking disorder, in: A. Scriver, W. S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.). The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York. 2001. Р. 3611–3633.Patterson M. C., Vanier M. T., Suzuki K., Morris J. A., Carstea E., Neufeld E. B., Blanchette-Mackie J. E., Pentchev P. G. Niemann–Pick disease type C: a lipid trafficking disorder, in: A. Scriver, W. S. Sly, D. Valle, B. Childs, B. Vogelstein (Eds.). The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York. 2001. Р. 3611–3633.Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topcu M., Vanier M., Widner H., Wijburg F., Pattersonm M. Рекомендации по диагностике и лечению болезни Ниманна-Пика тип С. Педиатрическая фармакология. 2010; 7 (1): 16–24.Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topcu M., Vanier M., Widner H., Wijburg F., Pattersonm M. Рекомендации по диагностике и лечению болезни Ниманна-Пика тип С. Педиатрическая фармакология. 2010; 7 (1): 16–24.Steinberg S. J., Ward C. P., Fensom A. H. Complementation studies in Niemann–Pick disease type C indicate the existence of a second group. J Med Genet. 1994; 31: 317–320.Steinberg S. J., Ward C. P., Fensom A. H. Complementation studies in Niemann–Pick disease type C indicate the existence of a second group. J Med Genet. 1994; 31: 317–320.Carstea E. D., Morris J. A., Coleman K. G., Loftus S. K., Zhang D., Cummings C., Gu J., Rosenfeld M. A., Pavan W. J., Krizman D. B., Nagle J., Polymeropoulos M. H., Sturley S. L., Ioannou Y. A., Higgins M. E., Comly M., Cooney A., Brown A., Kaneski C. R., Blanchette-Mackie E. J., Dwyer N. K., Neufeld E. B., Chang T. Y., Liscum L., Strauss J. F., Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R. R., van Diggelen O. P., Elleder M., Patterson M. C., Brady R. O., Vanier M. T., Pentchev P. G., Tagle D. A. Niemann–Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997; 277: 228–231.Carstea E. D., Morris J. A., Coleman K. G., Loftus S. K., Zhang D., Cummings C., Gu J., Rosenfeld M. A., Pavan W. J., Krizman D. B., Nagle J., Polymeropoulos M. H., Sturley S. L., Ioannou Y. A., Higgins M. E., Comly M., Cooney A., Brown A., Kaneski C. R., Blanchette-Mackie E. J., Dwyer N. K., Neufeld E. B., Chang T. Y., Liscum L., Strauss J. F., Ohno K., Zeigler M., Carmi R., Sokol J., Markie D., O'Neill R. R., van Diggelen O. P., Elleder M., Patterson M. C., Brady R. O., Vanier M. T., Pentchev P. G., Tagle D. A. Niemann–Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997; 277: 228–231.Tangemo C., Weber D., Theiss S., Mengel E., Runz H. Niemann–Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. J Lipid Res. 2011; 52: 813–825.Tangemo C., Weber D., Theiss S., Mengel E., Runz H. Niemann–Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage. J Lipid Res. 2011; 52: 813–825.Vanier M. T. Lipid changes in Niemann–Pick disease type C brain: personal experience and review of the literature. Neurochem Res. 1999; 24: 481–489.Vanier M. T. Lipid changes in Niemann–Pick disease type C brain: personal experience and review of the literature. Neurochem Res. 1999; 24: 481–489.Davidson C. D., Ali N. F., Micsenyi M. C., Stephney G., Renault S., Dobrenis K., Ory D. S., Vanier M. T., Walkley S. U. Chronic cyclodextrin treatment ofmurine Niemann–Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One. 2009; 4: e6951.Davidson C. D., Ali N. F., Micsenyi M. C., Stephney G., Renault S., Dobrenis K., Ory D. S., Vanier M. T., Walkley S. U. Chronic cyclodextrin treatment ofmurine Niemann–Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One. 2009; 4: e6951.Rodriguez-Lafrasse C., Rousson R., Pentchev P. G., Louisot P., Vanier M. T. Free sphingoid bases in tissues from patients with type C Niemann–Pick disease and other lysosomal storage disorders. Biochim Biophys Acta. 1994; 1226: 138–144.Rodriguez-Lafrasse C., Rousson R., Pentchev P. G., Louisot P., Vanier M. T. Free sphingoid bases in tissues from patients with type C Niemann–Pick disease and other lysosomal storage disorders. Biochim Biophys Acta. 1994; 1226: 138–144.Vanier M. T. Biochemical studies inNiemann–Pick disease. I. Major sphingolipids of liver and spleen. Biochim Biophys Acta. 1983; 750: 178–184.Vanier M. T. Biochemical studies inNiemann–Pick disease. I. Major sphingolipids of liver and spleen. Biochim Biophys Acta. 1983; 750: 178–184.Garver W. S., Francis G. A., Jelinek D., Shepherd G., Flynn J., Castro G., Vockley C., Coppock D. L., Pettit K. M., Heidenreich R. A., Meaney F. J. The National Niemann–Pick C1 disease database: report of clinical features and health problems. Am J Med Genet. 2007; 143: 1204–1211.Garver W. S., Francis G. A., Jelinek D., Shepherd G., Flynn J., Castro G., Vockley C., Coppock D. L., Pettit K. M., Heidenreich R. A., Meaney F. J. The National Niemann–Pick C1 disease database: report of clinical features and health problems. Am J Med Genet. 2007; 143: 1204–1211.Imrie J., Dasgupta S., Besley G. T., Harris C., Heptinstall L., Knight S., Vanier M. T., Fensom A. H., Ward C., Jacklin E., Whitehouse C., Wraith J. E. The natural history of Niemann–Pick disease type C in the UK. J Inherit Metab Dis. 2007; 30: 51–59.Imrie J., Dasgupta S., Besley G. T., Harris C., Heptinstall L., Knight S., Vanier M. T., Fensom A. H., Ward C., Jacklin E., Whitehouse C., Wraith J. E. The natural history of Niemann–Pick disease type C in the UK. J Inherit Metab Dis. 2007; 30: 51–59.Iturriaga C., Pineda M., Fernandez-Valero E. M., Vanier M. T., Coll M. J. Niemann–Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006; 249: 1–6.Iturriaga C., Pineda M., Fernandez-Valero E. M., Vanier M. T., Coll M. J. Niemann–Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci. 2006; 249: 1–6.Vanier M. T. Phenotypic and genetic heterogeneity in Niemann–Pick disease type C: current knowledge and practical implications. Wien Klin Wochenschr. 1997; 109: 68–73.Vanier M. T. Phenotypic and genetic heterogeneity in Niemann–Pick disease type C: current knowledge and practical implications. Wien Klin Wochenschr. 1997; 109: 68–73.Patterson M. C. A riddle wrapped in a mystery: understanding Niemann–Pick disease, type C. Neurologist. 2003; 9: 301–310.Patterson M. C. A riddle wrapped in a mystery: understanding Niemann–Pick disease, type C. Neurologist. 2003; 9: 301–310.Kelly D. A., Portmann B., Mowat A. P., Sherlock S., Lake B. D. Niemann–Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993; 123: 242–247.Kelly D. A., Portmann B., Mowat A. P., Sherlock S., Lake B. D. Niemann–Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993; 123: 242–247.Imrie J., Wraith J. E. Isolated splenomegaly as the presenting feature of Niemann–Pick disease type C. Arch Dis Child. 2001; 84: 427–429.Imrie J., Wraith J. E. Isolated splenomegaly as the presenting feature of Niemann–Pick disease type C. Arch Dis Child. 2001; 84: 427–429.Imrie J., Vijayaraghaven S., Whitehouse C., Harris S., Heptinstall L., Church H., Cooper A., Besley G. T., Wraith J. E. Niemann–Pick disease type C in adults. J Inherit Metab. Dis. 2002; 25: 491–500.Imrie J., Vijayaraghaven S., Whitehouse C., Harris S., Heptinstall L., Church H., Cooper A., Besley G. T., Wraith J. E. Niemann–Pick disease type C in adults. J Inherit Metab. Dis. 2002; 25: 491–500.Sevin M., Lesca G., Baumann N., Millat G., Lyon-Caen O., Vanier M. T., Sedel F. The adult form of Niemann–Pick disease type C. Brain. 2007; 130: 120–133.Sevin M., Lesca G., Baumann N., Millat G., Lyon-Caen O., Vanier M. T., Sedel F. The adult form of Niemann–Pick disease type C. Brain. 2007; 130: 120–133.Wraith J. E., Guffon N., Rohrbach M., Hwu W. L., Korenke G. C., Bembi B., Luzy C., Giorgino R., Sedel F. Natural history of Niemann–Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009; 98: 250–254.Wraith J. E., Guffon N., Rohrbach M., Hwu W. L., Korenke G. C., Bembi B., Luzy C., Giorgino R., Sedel F. Natural history of Niemann–Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab. 2009; 98: 250–254.Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topcu M., Vanier M. T., Widner H., Wijburg F. A., Patterson M. C. Recommendations on the diagnosis and management of Niemann–Pick disease type C. Mol Genet Metab. 2009; 98: 152–165.Wraith J. E., Baumgartner M. R., Bembi B., Covanis A., Levade T., Mengel E., Pineda M., Sedel F., Topcu M., Vanier M. T., Widner H., Wijburg F. A., Patterson M. C. Recommendations on the diagnosis and management of Niemann–Pick disease type C. Mol Genet Metab. 2009; 98: 152–165.Patterson M. C., Platt F. Therapy of Niemann–Pick disease, type C. Biochim Biophys Acta. 2004; 1685: 77–82.Patterson M. C., Platt F. Therapy of Niemann–Pick disease, type C. Biochim Biophys Acta. 2004; 1685: 77–82.Vanier M. T., Wenger D. A., Comly M. E., Rousson R., Brady R. O., Pentchev P. G. Niemann–Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet. 1988; 33: 331–348.Vanier M. T., Wenger D. A., Comly M. E., Rousson R., Brady R. O., Pentchev P. G. Niemann–Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet. 1988; 33: 331–348.Walterfang M., Fietz M., Abel L., Bowman E., Mocellin R., Velakoulis D. Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann–Pick disease type C. J Inherit Metab Dis. 2009. Doi:10.1007/s10545-009-1173-1. [Epub ahead of print].Walterfang M., Fietz M., Abel L., Bowman E., Mocellin R., Velakoulis D. Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann–Pick disease type C. J Inherit Metab Dis. 2009. Doi:10.1007/s10545-009-1173-1. [Epub ahead of print].Vanier M. T., Rodriguez-Lafrasse C., Rousson R., Gazzah N., Juge M. C., Pentchev P. G., Revol A., Louisot P. Type C Niemann–Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta. 1991; 1096: 328–337.Vanier M. T., Rodriguez-Lafrasse C., Rousson R., Gazzah N., Juge M. C., Pentchev P. G., Revol A., Louisot P. Type C Niemann–Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta. 1991; 1096: 328–337.Sarna J. R., Larouche M., Marzban H., Sillitoe R. V., Rancourt D. E., Hawkes R. Patterned Purkinje cell degeneration in mouse models of Niemann–Pick type C disease. J Comp Neurol. 2003; 456: 279–291.Sarna J. R., Larouche M., Marzban H., Sillitoe R. V., Rancourt D. E., Hawkes R. Patterned Purkinje cell degeneration in mouse models of Niemann–Pick type C disease. J Comp Neurol. 2003; 456: 279–291.Walkley S. U., Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004; 1685: 48–62.Walkley S. U., Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004; 1685: 48–62.Sedel F., Saudubray J. M., Roze E., Agid Y., Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. 2008; 31: 308–318.Sedel F., Saudubray J. M., Roze E., Agid Y., Vidailhet M. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. 2008; 31: 308–318.Josephs K. A., Van Gerpen M. W., Van Gerpen J. A. Adult onset Niemann–Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry. 2003; 74: 528–529.Josephs K. A., Van Gerpen M. W., Van Gerpen J. A. Adult onset Niemann–Pick disease type C presenting with psychosis. J Neurol Neurosurg Psychiatry. 2003; 74: 528–529.Chien Y. H., Lee N. C., Tsai L. K., Huang A. C., Peng S. F., Chen S. J., Hwu W. L. 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. 2007; 30: 826.Chien Y. H., Lee N. C., Tsai L. K., Huang A. C., Peng S. F., Chen S. J., Hwu W. L. 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. 2007; 30: 826.Fecarotta S., Amitrano M., Romano A., R. Della Casa, D. Bruschini, L. Astarita, G. Parenti, G. Andria. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat. Am J Med Genet A. 2011; 155А: 540–547.Fecarotta S., Amitrano M., Romano A., R. Della Casa, D. Bruschini, L. Astarita, G. Parenti, G. Andria. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat. Am J Med Genet A. 2011; 155А: 540–547.Altman K. W., Yu G. P., Schaefer S. D. Consequence of dysphagia in the hospitalized patient: impact on prognosis and hospital resources. Arch Otolaryngol Head Neck Surg. 2010; 136: 784–789.Altman K. W., Yu G. P., Schaefer S. D. Consequence of dysphagia in the hospitalized patient: impact on prognosis and hospital resources. Arch Otolaryngol Head Neck Surg. 2010; 136: 784–789.Abel L. A., Walterfang M., Fietz M., Bowman E. A., Velakoulis D. Sac cades in adult Niemann–Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology. 2009; 72: 1083–1086.Abel L. A., Walterfang M., Fietz M., Bowman E. A., Velakoulis D. Sac cades in adult Niemann–Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology. 2009; 72: 1083–1086.Solomon D., Winkelman A. C., Zee D. S., Gray L., ButtnerEnnever J. Niemann–Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N.-Y Acad Sci. 2005; 1039: 436–445.Solomon D., Winkelman A. C., Zee D. S., Gray L., ButtnerEnnever J. Niemann–Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann N.-Y Acad Sci. 2005; 1039: 436–445.Walterfang M., Evans A. H., Fietz M., Velakoulis D. Images in neuroscience: psychosis and vertical supranuclear opthalmoplegia. J Clin Neurosci. 2008; 291: 370–371.Walterfang M., Evans A. H., Fietz M., Velakoulis D. Images in neuroscience: psychosis and vertical supranuclear opthalmoplegia. J Clin Neurosci. 2008; 291: 370–371.Walterfang M., Macfarlane M. D., Looi J. C., Abel L., Bowman E., Fahey M. C., Desmond P., Velakoulis D. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann–Pick disease type C. Eur J Neurol. 2011. doi:10.1111/j. 1468-1331.2011.3545.x. [Epub ahead of print].Walterfang M., Macfarlane M. D., Looi J. C., Abel L., Bowman E., Fahey M. C., Desmond P., Velakoulis D. Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann–Pick disease type C. Eur J Neurol. 2011. doi:10.1111/j. 1468-1331.2011.3545.x. [Epub ahead of print].Lengyel D., Weissert M., Schmid L., Gottlob I. Eye movement abnormalities as a sign for the diagnosis in Niemann–Pick disease type C. Klin Monatsb l Augenheilkd. 1999; 214: 50–52.Lengyel D., Weissert M., Schmid L., Gottlob I. Eye movement abnormalities as a sign for the diagnosis in Niemann–Pick disease type C. Klin Monatsb l Augenheilkd. 1999; 214: 50–52.Smit L. S., Lammers G. J., Catsman-Berrevoets C. E. Cataplexy leading to the diagnosis of Niemann–Pick disease type C. Pediatr Neurol. 2006; 35: 82–84.Smit L. S., Lammers G. J., Catsman-Berrevoets C. E. Cataplexy leading to the diagnosis of Niemann–Pick disease type C. Pediatr Neurol. 2006; 35: 82–84.Philippart M., Engel Jr., Zimmerman E. G. Gelastic cataplexy in Niemann–Pick disease group C and related variants without generalized sphingomyelinase deficiency. Ann Neurol. 1983; 14: 492–493.Philippart M., Engel Jr., Zimmerman E. G. Gelastic cataplexy in Niemann–Pick disease group C and related variants without generalized sphingomyelinase deficiency. Ann Neurol. 1983; 14: 492–493.Kandt R. S., Emerson R. G., Singer H. S., Valle D. L., Moser H. W. Cataplexy in variant forms of Niemann–Pick disease. Ann Neurol. 1982; 12: 284–288.Kandt R. S., Emerson R. G., Singer H. S., Valle D. L., Moser H. W. Cataplexy in variant forms of Niemann–Pick disease. Ann Neurol. 1982; 12: 284–288.Oyama K., Takahashi T., Shoji Y., M. Oyamada, A. Noguchi, H. Tamura, G. Takada, T. Kanbayashi. Niemann–Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Tohoku J Exp Med. 2006; 209: 263–267.Oyama K., Takahashi T., Shoji Y., M. Oyamada, A. Noguchi, H. Tamura, G. Takada, T. Kanbayashi. Niemann–Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid. Tohoku J Exp Med. 2006; 209: 263–267.Yanjanin N. M., Velez J. I., Gropman A., K. King, S. E. Bianconi, S. K. Conley, C. C. Brewer, B. Solomon, W. J. Pavan, M. Arcos-Burgos, M. C. Patterson, F. D. Porter. Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C. Am J Med Genet B. Neuropsychiatr Genet. 2010; 153В: 132–140.Yanjanin N. M., Velez J. I., Gropman A., K. King, S. E. Bianconi, S. K. Conley, C. C. Brewer, B. Solomon, W. J. Pavan, M. Arcos-Burgos, M. C. Patterson, F. D. Porter. Linear clinical progression, independent of age of onset, in Niemann–Pick disease, type C. Am J Med Genet B. Neuropsychiatr Genet. 2010; 153В: 132–140.Pikus A. Audiologic profile in Niemann–Pick C. Ann N.-Y Acad Sci. 1991; 630: 313–314.Pikus A. Audiologic profile in Niemann–Pick C. Ann N.-Y Acad Sci. 1991; 630: 313–314.Zafeiriou D. I., Triantafyllou P., Gombakis N. P., Vargiami E., Tsantali C., Michelakaki E. Niemann–Pick type C disease associated with peripheral neuropathy. Pediatr Neurol. 2003; 29: 242–244.Zafeiriou D. I., Triantafyllou P., Gombakis N. P., Vargiami E., Tsantali C., Michelakaki E. Niemann–Pick type C disease associated with peripheral neuropathy. Pediatr Neurol. 2003; 29: 242–244.Walterfang M., Kornberg A., Adams S., Fietz M., Velakoulis D. Post-ictal psychosis in adolescent Niemann–Pick disease type C. J Inherit Metab Dis. 2010. doi:10.1007/s10545-009-9021-x. [Epub ahead of print].Walterfang M., Kornberg A., Adams S., Fietz M., Velakoulis D. Post-ictal psychosis in adolescent Niemann–Pick disease type C. J Inherit Metab Dis. 2010. doi:10.1007/s10545-009-9021-x. [Epub ahead of print].Klarner B., Klunemann H. H., Lurding R., Aslanidis C., Rupprecht R. Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007; 30: 60–67.Klarner B., Klunemann H. H., Lurding R., Aslanidis C., Rupprecht R. Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations. J Inherit Metab Dis. 2007; 30: 60–67.Hulette C. M., Earl N. L., Anthony D. C., Crain B. J. Adult onset Niemann–Pick disease type C presenting with dementia and absent organomegaly. Clin Neuropathol. 1992; 11: 293–297.Hulette C. M., Earl N. L., Anthony D. C., Crain B. J. Adult onset Niemann–Pick disease type C presenting with dementia and absent organomegaly. Clin Neuropathol. 1992; 11: 293–297.Walterfang M., Fietz M., Fahey M., Sullivan D., Leane P., Lubman D. I., Velakoulis D. The neuropsychiatry of Niemann–Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci. 2006; 18: 158–170.Walterfang M., Fietz M., Fahey M., Sullivan D., Leane P., Lubman D. I., Velakoulis D. The neuropsychiatry of Niemann–Pick type C disease in adulthood. J Neuropsychiatry Clin Neurosci. 2006; 18: 158–170.Sandu S., Jackowski-Dohrmann S., Ladner A., Haberhausen M., Bachmann C. Niemann–Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry. 2009; 18: 583–585.Sandu S., Jackowski-Dohrmann S., Ladner A., Haberhausen M., Bachmann C. Niemann–Pick disease type C1 presenting with psychosis in an adolescent male. Eur Child Adolesc Psychiatry. 2009; 18: 583–585.Turpin J. C., Baumann N. Presenting psychiatric and cognitive disorders in adult neurolipidoses. Rev Neurol (Paris). 2003; 159: 637–647.Turpin J. C., Baumann N. Presenting psychiatric and cognitive disorders in adult neurolipidoses. Rev Neurol (Paris). 2003; 159: 637–647.Campo J. V., Stowe R., Slomka G., Byler D., Gracious B. Psychosis as a presentation of physical disease in adolescence: a case of Niemann–Pick disease, type C. Dev Med Child Neurol. 1998; 40: 126–129.Campo J. V., Stowe R., Slomka G., Byler D., Gracious B. Psychosis as a presentation of physical disease in adolescence: a case of Niemann–Pick disease, type C. Dev Med Child Neurol. 1998; 40: 126–129.Tyvaert L., Stojkovic T., Cuisset J. M., M. T. Vanier, J. C. Turpin, J. De Seze, P. Vermersch. Presentation of Niemann–Pick type C disease with psychiatric disturbance in an adult. Rev Neurol (Paris). 2005; 161: 318–322.Tyvaert L., Stojkovic T., Cuisset J. M., M. T. Vanier, J. C. Turpin, J. De Seze, P. Vermersch. Presentation of Niemann–Pick type C disease with psychiatric disturbance in an adult. Rev Neurol (Paris). 2005; 161: 318–322.Shulman L. M., David N. J., Weiner W. J. Psychosis as the initial manifestation of adult-onset Niemann–Pick disease type C. Neurology. 1995; 45: 1739–1743.Shulman L. M., David N. J., Weiner W. J. Psychosis as the initial manifestation of adult-onset Niemann–Pick disease type C. Neurology. 1995; 45: 1739–1743.Trendelenburg G., Vanier M. T., Maza S., G. Millat, G. Bohner, D. L. Munz, R. Zschenderlein. Niemann–Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry. 2006; 77: 997–998.Trendelenburg G., Vanier M. T., Maza S., G. Millat, G. Bohner, D. L. Munz, R. Zschenderlein. Niemann–Pick type C disease in a 68-year-old patient. J Neurol Neurosurg Psychiatry. 2006; 77: 997–998.Battisti C., Tarugi P., Dotti M. T., De Stefano N., Vattimo A., Chierichetti F., Calandra S., Federico A. Adult onset Niemann–Pick type C disease: A clinical, neuroimaging and molecular genetic study. Mov Disord. 2003; 18: 1405–1409.Battisti C., Tarugi P., Dotti M. T., De Stefano N., Vattimo A., Chierichetti F., Calandra S., Federico A. Adult onset Niemann–Pick type C disease: A clinical, neuroimaging and molecular genetic study. Mov Disord. 2003; 18: 1405–1409.Sullivan D., Walterfang M., Velakoulis D. Bipolar disorder and Niemann–Pick disease type C. Am J Psychiatry. 2005; 162: 1021–1022.Sullivan D., Walterfang M., Velakoulis D. Bipolar disorder and Niemann–Pick disease type C. Am J Psychiatry. 2005; 162: 1021–1022.Griese M., Brasch F., Aldana V. R., Cabrera M. M., Goelnitz U., E. Ikonen, B. J. Karam, G. Liebisch, M. D. Linder, P. Lohse, W. Meyer, G. Schmitz, A. Pamir, J. Ripper, A. Rolfs, A. Schams, F. J. Lezana. Respiratory disease in Niemann–Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet. 2010; 77: 119–130.Griese M., Brasch F., Aldana V. R., Cabrera M. M., Goelnitz U., E. Ikonen, B. J. Karam, G. Liebisch, M. D. Linder, P. Lohse, W. Meyer, G. Schmitz, A. Pamir, J. Ripper, A. Rolfs, A. Schams, F. J. Lezana. Respiratory disease in Niemann–Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet. 2010; 77: 119–130.Bjurulf B., Spetalen S., Erichsen A., Vanier M. T., Strom E. H., Stromme P. Niemann–Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue. Med Sci Monit. 2008; 14: CS71–CS75.Bjurulf B., Spetalen S., Erichsen A., Vanier M. T., Strom E. H., Stromme P. Niemann–Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue. Med Sci Monit. 2008; 14: CS71–CS75.Spiegel R., Raas-Rothschild A., Reish O., Regev M., Meiner V., Bargal R., Sury V., Meir K., Nadjari M., Hermann G., Iancu T. C., Shalev S., Zeigler M. The clinical spectrum of fetal Niemann–Pick type C. Am J Med Genet A. 2009; 149А: 446–450.Spiegel R., Raas-Rothschild A., Reish O., Regev M., Meiner V., Bargal R., Sury V., Meir K., Nadjari M., Hermann G., Iancu T. C., Shalev S., Zeigler M. The clinical spectrum of fetal Niemann–Pick type C. Am J Med Genet A. 2009; 149А: 446–450.Yerushalmi B., Sokol R., Narkewicz M., Smith D., Ashmead J. W., Wenger D. Niemann–Pick disease type C in neonatal cholestasis at a North American Center. J Pediatr Gastroenterol Nutr. 2002; 35: 44–50.Yerushalmi B., Sokol R., Narkewicz M., Smith D., Ashmead J. W., Wenger D. Niemann–Pick disease type C in neonatal cholestasis at a North American Center. J Pediatr Gastroenterol Nutr. 2002; 35: 44–50.Sedel F. Clinical diagnosis of the adult form of Niemann–Pick type C disease. Arch Pediatr. 2010; 17 (Suppl. 2): S50–S53.Sedel F. Clinical diagnosis of the adult form of Niemann–Pick type C disease. Arch Pediatr. 2010; 17 (Suppl. 2): S50–S53.Uc E. Y., Wenger D. A., Jankovic J. Niemann–Pick disease type C: two cases and an update. Mov Disord. 15 (2000; 15: 1199–1203.Uc E. Y., Wenger D. A., Jankovic J. Niemann–Pick disease type C: two cases and an update. Mov Disord. 15 (2000; 15: 1199–1203.McGovern M. M., Wasserstein M. P., Aron A., Desnick R. J., Schuchman E. H., Brodie S. E. Ocular manifestations of Niemann–Pick disease type B. Ophthalmology. 2004; 111: 1424–1427.McGovern M. M., Wasserstein M. P., Aron A., Desnick R. J., Schuchman E. H., Brodie S. E. Ocular manifestations of Niemann–Pick disease type B. Ophthalmology. 2004; 111: 1424–1427.McGovern M. M., Wasserstein M. P., Giugliani R., B. Bembi, M. T. Vanier, E. Mengel, S. E. Brodie, D. Mendelson, G. Skloot, R. J. Desnick, N. Kuriyama, G. F. Cox. A prospective, cross-sectional survey study of the natural history of Niemann–Pick disease type B. Pediatrics. 2008; 122: e341–e349.McGovern M. M., Wasserstein M. P., Giugliani R., B. Bembi, M. T. Vanier, E. Mengel, S. E. Brodie, D. Mendelson, G. Skloot, R. J. Desnick, N. Kuriyama, G. F. Cox. A prospective, cross-sectional survey study of the natural history of Niemann–Pick disease type B. Pediatrics. 2008; 122: e341–e349.Harzer K., Ruprecht K., Seuffer-Schulze D., Jans U. Niemann–Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl). Graefes Arch Clin Exp Ophthalmol (Albrecht von Graefe’s archive for clinical and experimental ophthalmology). 1978; 206: 79–88.Harzer K., Ruprecht K., Seuffer-Schulze D., Jans U. Niemann–Pick disease type B: An enzymatically confirmed case with unexpected retinal involvement (author's transl). Graefes Arch Clin Exp Ophthalmol (Albrecht von Graefe’s archive for clinical and experimental ophthalmology). 1978; 206: 79–88.Jan M. M., Camfield P. R. Nova Scotia Niemann–Pick disease (type D): clinical study of 20 cases. J Child Neurol. 1998; 13: 75–78.Jan M. M., Camfield P. R. Nova Scotia Niemann–Pick disease (type D): clinical study of 20 cases. J Child Neurol. 1998; 13: 75–78.Wijburg F. A., Sedel F., Pineda M., Hendriksz C., Fahey M., Watlerfang M., Patterson M., Wraith J. E., Kolb M. Development of a suspicion index to aid diagnosis of Niemann–Pick disease type C. Neurology Published online before print. April 18. 2012. doi:10.1212/WNL.0b013e3182563b82.Wijburg F. A., Sedel F., Pineda M., Hendriksz C., Fahey M., Watlerfang M., Patterson M., Wraith J. E., Kolb M. Development of a suspicion index to aid diagnosis of Niemann–Pick disease type C. Neurology Published online before print. April 18. 2012. doi:10.1212/WNL.0b013e3182563b82.Guo Y., He W., Boer A. M., R. A. Wevers, A. M. de Bruijn, J. E. Groener, C. E. Hollak, J. M. Aerts, H. Galjaard, O. P. van Diggelen. Elevated plasma chitotriosidase activity invarious lysosomal storage disorders. J Inherit Metab Dis. 1995; 18: 717–722.Guo Y., He W., Boer A. M., R. A. Wevers, A. M. de Bruijn, J. E. Groener, C. E. Hollak, J. M. Aerts, H. Galjaard, O. P. van Diggelen. Elevated plasma chitotriosidase activity invarious lysosomal storage disorders. J Inherit Metab Dis. 1995; 18: 717–722.Wajner A., Michelin K., Burin M. G., Pires R. F., Pereira M. L., Giugliani R., Coelho J. C. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases. Clin Biochem. 2004; 37: 893–897.Wajner A., Michelin K., Burin M. G., Pires R. F., Pereira M. L., Giugliani R., Coelho J. C. Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases. Clin Biochem. 2004; 37: 893–897.Ries M., Schaefer E., Luhrs T., Mani L., Kuhn J., Vanier M., Krummenauer F., Gal A., Beck M., Mengel E. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann– Pick disease type A/B and C. J Inherit Metab Dis. 2006; 29: 647–652.Ries M., Schaefer E., Luhrs T., Mani L., Kuhn J., Vanier M., Krummenauer F., Gal A., Beck M., Mengel E. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann– Pick disease type A/B and C. J Inherit Metab Dis. 2006; 29: 647–652.Boot R. G., Renkema G. H., Verhoek M., Strijland A., Bliek J., de Meulemeester T. M., Mannens M. M., Aerts J. M. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998; 273: 25680–25685.Boot R. G., Renkema G. H., Verhoek M., Strijland A., Bliek J., de Meulemeester T. M., Mannens M. M., Aerts J. M. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998; 273: 25680–25685.Porter F. D., Scherrer D. E., Lanier M. H., Langmade S. J., Molugu V., Gale S. E., D. Olzeski, R. Sidhu, D. J. Dietzen, R. Fu, C. A. Wassif, N. M. Yanjanin, S. P. Marso, J. House, C. Vite, J. E. Schaffer, D. S. Ory. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease. Sci Transl Med. 2010; 2: 56ra81.Porter F. D., Scherrer D. E., Lanier M. H., Langmade S. J., Molugu V., Gale S. E., D. Olzeski, R. Sidhu, D. J. Dietzen, R. Fu, C. A. Wassif, N. M. Yanjanin, S. P. Marso, J. House, C. Vite, J. E. Schaffer, D. S. Ory. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann–Pick C1 disease. Sci Transl Med. 2010; 2: 56ra81.Garver W. S., Jelinek D., Meaney F. J., Flynn J., K. M. Pettit, G. Shepherd, R. A. Heidenreich, C. M. Vockley, G. Castro, G. A. Francis. The National Niemann–Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res. 2010: 51: 406–415.Garver W. S., Jelinek D., Meaney F. J., Flynn J., K. M. Pettit, G. Shepherd, R. A. Heidenreich, C. M. Vockley, G. Castro, G. A. Francis. The National Niemann–Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes. J Lipid Res. 2010: 51: 406–415.Pineda M., Perez-Poyato M., O'Callaghan M., Vilaseca M., Pocovi M., R. Domingo, L. R. Portal, A. V. Perez, T. Temudo, A. Gaspar, J. J. Penas, S. Roldan, L. M. Fumero, O. B. de la Barca, M. T. Silva, J. Macias-Vidal, M. J. Coll. Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: a case series. Mol Genet Metab. 2010; 99: 358–366.Pineda M., Perez-Poyato M., O'Callaghan M., Vilaseca M., Pocovi M., R. Domingo, L. R. Portal, A. V. Perez, T. Temudo, A. Gaspar, J. J. Penas, S. Roldan, L. M. Fumero, O. B. de la Barca, M. T. Silva, J. Macias-Vidal, M. J. Coll. Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: a case series. Mol Genet Metab. 2010; 99: 358–366.Wakida K., Matsuyama Z., Suzuki Y., Sawada M., H. Tsurumi, A. Kimura, Y. Hayashi, T. Hashizume, I. Hozumi, T. Inuzuka. Diagnosis of adult type of Niemann–Pick disease (type C) in two brothers by filipin staining of bone marrow smears. No To Shinkei. 2004; 56: 1047–1053.Wakida K., Matsuyama Z., Suzuki Y., Sawada M., H. Tsurumi, A. Kimura, Y. Hayashi, T. Hashizume, I. Hozumi, T. Inuzuka. Diagnosis of adult type of Niemann–Pick disease (type C) in two brothers by filipin staining of bone marrow smears. No To Shinkei. 2004; 56: 1047–1053.Vanier M. T., Suzuki K. Recent advances in elucidating Niemann–Pick C disease. Brain Pathol. 1998; 8: 163–174.Vanier M. T., Suzuki K. Recent advances in elucidating Niemann–Pick C disease. Brain Pathol. 1998; 8: 163–174.Argoff C. E., Comly M. E., Blanchette-Mackie J., Kruth H. S., H. T. Pye, E. Goldin, C. Kaneski, M. T. Vanier, R. O. Brady, P. G. Pentchev. Type C Niemann–Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. Biochim Biophys Acta. 1991; 1096: 319–327.Argoff C. E., Comly M. E., Blanchette-Mackie J., Kruth H. S., H. T. Pye, E. Goldin, C. Kaneski, M. T. Vanier, R. O. Brady, P. G. Pentchev. Type C Niemann–Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. Biochim Biophys Acta. 1991; 1096: 319–327.Millat G., Chikh K., Naureckiene S., D. E. Sleat, A. H. Fensom, K. Higaki, M. Elleder, P. Lobel, M. T. Vanier. 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.Millat G., Chikh K., Naureckiene S., D. E. Sleat, A. H. Fensom, K. Higaki, M. Elleder, P. Lobel, M. T. Vanier. 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.Millat G., Bailo N., Molinero S., Rodriguez C., Chikh K., Vanier M. T. Niemann–Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab. 2005; 86: 220–232.Millat G., Bailo N., Molinero S., Rodriguez C., Chikh K., Vanier M. T. Niemann–Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab. 2005; 86: 220–232.Lyu R. K., Ko Y. M., Hung I. J., Lu C. S. Type C Niemann–Pick disease: report of a Chinese case. J Formos Med Assoc. 1993; 92: 829–831.Lyu R. K., Ko Y. M., Hung I. J., Lu C. S. Type C Niemann–Pick disease: report of a Chinese case. J Formos Med Assoc. 1993; 92: 829–831.Suzuki O., Abe M. Secondary sea-blue histiocytosis derived from Niemann–Pick disease. J Clin Exp Hematop. 2007; 47: 19–21.Suzuki O., Abe M. Secondary sea-blue histiocytosis derived from Niemann–Pick disease. J Clin Exp Hematop. 2007; 47: 19–21.Vanier M. T. Prenatal diagnosis of Niemann–Pick diseases types A, B and C. Prenat Diagn. 2002; 22: 630–632.Vanier M. T. Prenatal diagnosis of Niemann–Pick diseases types A, B and C. Prenat Diagn. 2002; 22: 630–632.Wraith J. E., Imrie J. Understanding Niemann–Pick disease type C and its potential treatment. Blackwell Publishing, Oxford, UK. 2007.Wraith J. E., Imrie J. Understanding Niemann–Pick disease type C and its potential treatment. Blackwell Publishing, Oxford, UK. 2007.Belmatoug N., Burlina A., Giraldo P., Hendriksz C. J., Kuter D. J., Mengel E., Pastores G. M. Gastrointestinal disturbances and their management in miglustattreated patients. J Inherit Metab Dis. 2011; 34: 991–1001.Belmatoug N., Burlina A., Giraldo P., Hendriksz C. J., Kuter D. J., Mengel E., Pastores G. M. Gastrointestinal disturbances and their management in miglustattreated patients. J Inherit Metab Dis. 2011; 34: 991–1001.Platt F. M., Neises G. R., Dwek R. A., Butters T. D. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 1994; 269: 8362–8365.Platt F. M., Neises G. R., Dwek R. A., Butters T. D. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 1994; 269: 8362–8365.Butters T. D., Dwek R. A., Platt F. M. Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders. Chem Rev. 2000; 100: 4683–4696.Butters T. D., Dwek R. A., Platt F. M. Inhibition of glycosphingolipid biosynthesis: application to lysosomal storage disorders. Chem Rev. 2000; 100: 4683–4696.Treiber A., Morand O., Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica. 2007; 37: 298–314.Treiber A., Morand O., Clozel M. The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat. Xenobiotica. 2007; 37: 298–314.Zervas M., Somers K. L., Thrall M., Walkley S. U. Critical role for glycosphingolipids in Niemann–Pick disease type C. Curr Biol. 2001; 11: 1283–1287.Zervas M., Somers K. L., Thrall M., Walkley S. U. Critical role for glycosphingolipids in Niemann–Pick disease type C. Curr Biol. 2001; 11: 1283–1287.Liscum L., Sturley S. L. Intracellular trafficking of Niemann–Pick C proteins 1 and 2: obligate components of subcellular lipid transport. Biochim Biophys Acta. 2004; 1685: 22–27.Liscum L., Sturley S. L. Intracellular trafficking of Niemann–Pick C proteins 1 and 2: obligate components of subcellular lipid transport. Biochim Biophys Acta. 2004; 1685: 22–27.Lloyd-Evans E., Platt F. M. Lipids on trial: the search for the offending metabolite in Niemann–Pick type C disease. Traffic. 2010; 11: 419–428.Lloyd-Evans E., Platt F. M. Lipids on trial: the search for the offending metabolite in Niemann–Pick type C disease. Traffic. 2010; 11: 419–428.Lloyd-Evans E., Morgan A., He X., Smith D. A., Elliot-Smith E., Sillence D. J., G. C. Churchill, E. H. Schuchman, A. Galione, F. M. Platt. Niemann–Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med. 2008; 14: 1247–1255.Lloyd-Evans E., Morgan A., He X., Smith D. A., Elliot-Smith E., Sillence D. J., G. C. Churchill, E. H. Schuchman, A. Galione, F. M. Platt. Niemann–Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med. 2008; 14: 1247–1255.Actelion, Miglustat (Zavesca) Summary of Product Characteristics. EMA (EudraPharm). 2010.Actelion, Miglustat (Zavesca) Summary of Product Characteristics. EMA (EudraPharm). 2010.Dvorakova L., Sikora J., Hrebicek M., Hulkova H., Bouckova M., Stolnaja L., Elleder M. Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder? J Inherit Metab Dis. 2006; 29: 591.Dvorakova L., Sikora J., Hrebicek M., Hulkova H., Bouckova M., Stolnaja L., Elleder M. Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder? J Inherit Metab Dis. 2006; 29: 591.Fensom A., Grant A., Steinberg S. J., Ward C. P., Lake B. D., Logan E. C., Hulman G. An adult with a non-neuronopathic form of Niemann–Pick C disease. J Inherit Metab Dis. 1999; 22: 84–86.Fensom A., Grant A., Steinberg S. J., Ward C. P., Lake B. D., Logan E. C., Hulman G. An adult with a non-neuronopathic form of Niemann–Pick C disease. J Inherit Metab Dis. 1999; 22: 84–86.Patterson M. C., Di Bisceglie A., Higgins J. J., Abel R. B., Schiffmann R., Parker C. C., Argoff C. E., Grewal R. P., Yu K., Pentchev P. G. et al. The effect of cholesterollowering agents on hepatic and plasma cholesterol in Niemann–Pick disease type C. Neurology. 1993; 43; 61–64.Patterson M. C., Di Bisceglie A., Higgins J. J., Abel R. B., Schiffmann R., Parker C. C., Argoff C. E., Grewal R. P., Yu K., Pentchev P. G. et al. The effect of cholesterollowering agents on hepatic and plasma cholesterol in Niemann–Pick disease type C. Neurology. 1993; 43; 61–64.Sylvain M., Arnold D. L., Scriver C. R., Schreiber R., Shevell M. I. Magnetic resonance spectroscopy in Niemann–Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. Pediatr Neurol. 1994; 10: 228–232.Sylvain M., Arnold D. L., Scriver C. R., Schreiber R., Shevell M. I. Magnetic resonance spectroscopy in Niemann–Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatin. Pediatr Neurol. 1994; 10: 228–232.Bonney D. K., O’Meara A., Shabani A., Imrie J., Bigger B. W., Jones S., Wraith J. E., Wynn R. F. Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect. J Inherit Metab Dis. 2010. doi:10.1007/s10545-010-9060-3. [Epub ahead of print].Bonney D. K., O’Meara A., Shabani A., Imrie J., Bigger B. W., Jones S., Wraith J. E., Wynn R. F. Successful allogeneic bone marrow transplant for Niemann–Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect. J Inherit Metab Dis. 2010. doi:10.1007/s10545-010-9060-3. [Epub ahead of print].
The authors declare that there are no conflicts of interest present.