References
- 1Vitner EB, Platt FM, Futerman AH. Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem. 2010; 285: 20423–7. DOI: 10.1074/jbc.R110.134452
- 2Coant N, Sakamoto W, Mao C, Hannun YA. Ceramidases, roles in sphingolipid metabolism and in health and disease. Adv Biol Regul. 2017; 63: 122–31. DOI: 10.1016/j.jbior.2016.10.002
- 3Grassi S, Chiricozzi E, Mauri L, Sonnino S, Prinetti A. Sphingolipids and neuronal degeneration in lysosomal storage disorders. J Neurochem. 2019; 148: 600–11. DOI: 10.1111/jnc.14540
- 4Brady RO, Kanfer JN, Mock MB, Fredrickson DS. The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae. Proc Natl Acad Sci U S A. 1966; 55: 366–9. DOI: 10.1073/pnas.55.2.366
- 5Vanier MT, Revol A, Fichet M. Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease – development and evaluation of a microprocedure. Clin Chim Acta. 1980; 106: 257–67. DOI: 10.1016/0009-8981(80)90309-5
- 6Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, et al. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem. 1999; 274: 9627–35. DOI: 10.1074/jbc.274.14.9627
- 7Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science. 1997; 277: 228–31. DOI: 10.1126/science.277.5323.228
- 8Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MT, Wattiaux R, et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science. 2000; 290: 2298–301. DOI: 10.1126/science.290.5500.2298
- 9Benussi A, Cotelli MS, Padovani A, Borroni B. Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC. F1000Res. 2018 Feb 15; 7: 194. DOI: 10.12688/f1000research.12361.1
- 10Polese-Bonatto M, Bock H, Farias ACS, Mergener R, Matte MC, Gil MS, et al. Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene. Mol Neurobiol. 2019; 56: 6426–35. DOI: 10.1007/s12035-019-1528-z
- 11Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013; 8: 12. DOI: 10.1186/1750-1172-8-12
- 12Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010 Jun 3; 5: 16. DOI: 10.1186/1750-1172-5-16
- 13Jiang X, Sidhu R, Porter FD, et al. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res. 2011; 52: 1435–45. DOI: 10.1194/jlr.D015735
- 14Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, et al; International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018; 13(1): 50. DOI: 10.1186/s13023-018-0785-7
- 15Vanier MT, Latour P. Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test. Methods Cell Biol. 2015; 126: 357–75. DOI: 10.1016/bs.mcb.2014.10.028
- 16Sevin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, et al. The adult form of Niemann-Pick disease type C. Brain 2007; 130: 120–33. DOI: 10.1093/brain/awl260
- 17Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, et al. Development of Suspicion index to aid diagnosis of Niemann-Pick disease type C. Neurology 2012; 78: 1560–67. DOI: 10.1212/WNL.0b013e3182563b82
- 18Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O. The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018; 5: 149–155. DOI: 10.1002/mdc3.12573
- 19Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease. J Neurol. 2014; 261: 174–9. DOI: 10.1007/s00415-013-7159-9
- 20Koens LH, Kuiper A, Coenen MA, Elting JW, de Vries JJ, Engelen M, et al. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C. Orphanet J Rare Dis. 2016 Sep 1; 11(1): 121. DOI: 10.1186/s13023-016-0502-3
- 21Gonzalez V, Cif L, Ayrignac X, Cyprien F, Nerrant E, Sanrey E, et al. Status dystonicus treated by Deep Brain Stimulation in Niemann Pick type C [abstract]. Mov Disord. 2017; 32 (suppl 2).
- 22Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, et al. Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years. Orphanet J Rare Dis. 2014 Sep 19; 9: 140. DOI: 10.1186/s13023-014-0140-6
- 23Salsano E, Umeh C, Rufa A, Pareyson D, Zee DS. Vertical supranuclear gaze palsy in Niemann-Pick type C disease. Neurol Sci. 2012; 33: 1225-32. DOI: 10.1007/s10072-012-1155-1
- 24Di Lazzaro V, Marano M, Florio L, De Santis S. Niemann-Pick type C: focus on the adolescent/adult onset form. Int J Neurosci. 2016; 126: 963–71. DOI: 10.3109/00207454.2016.1161623
- 25NP-C Guidelines Working Group, 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: 152–65. DOI: 10.1016/j.ymgme.2009.06.008