14800-DvRappard

21 General introduction 1 REFERENCES 1. Biffi A, Lucchini G, Rovelli A, Sessa M. Metachromatic leukodystrophy: an overview of current and prospective treatments. Bone Marrow Transplant . 2008;42 Suppl 2:S2-S6. 2. Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, et al. Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. HumMutat . 2016;37:16-27. 3. RosenbergJB,KaminskySM,AubourgP,CrystalRG,SondhiD.Genetherapyformetachromatic leukodystrophy. J Neurosci Res . 2016;94:1169-1179. 4. Patil SA, Maegawa GH. Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther. 2013;7:729-745. 5. Eckhardt M. The role and metabolism of sulfatide in the nervous system. Mol Neurobiol . 2008;37:93-103. 6. Diez-Roux G, Ballabio A. Sulfatases and human disease. Annu Rev Genomics Hum Genet . 2005;6:355-379. 7. Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta . 2009;1793:710-725. 8. Dali CI, Barton NW, FarahMH, MoldovanM, Mansson JE, Nair N, et al. Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy. Ann Clin Transl Neurol . 2015;2:518-533. 9. Morell P. Myelin. second edition ed. North Carolina: Plenum Press; 1984. 10. Givogri MI, Bottai D, Zhu HL, Fasano S, Lamorte G, Brambilla R, et al. Multipotential neural precursors transplanted into the metachromatic leukodystrophy brain fail to generate oligodendrocytes but contribute to limit brain dysfunction. Dev Neurosci. 2008;30:340-357. 11. Gieselmann V. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Suppl. 2008;97:15-21. 12. Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J Inherit Metab Dis . 2007;30:175-183. 13. Love S, Louis DN, Ellison DW. Lysosomal diseases. In: Love S, Louis DN, Ellison DW, editors. Greenfield's Neuropathology. eigth ed. London: Hoddler Arnold; 2008. p. 535-539. 14. Christensen E MJ, Negri S. A comparative study of 16 cases of diffuse sclerosis with special reference to the histopathological findings. Acta Neurol Scand . 1961;37:163-207. 15. Takashima S, Matsui A, Fujii Y, Nakamura H. Clinicopathological differences between juvenile and late infantile metachromatic leukodystrophy. Brain Dev . 1981;3:365-374. 16. Groeschel S, Dali C, Clas P, Bohringer J, DunoM, Krarup C, et al. Cerebral gray andwhitematter changes and clinical course in metachromatic leukodystrophy. Neurology. 2012;79:1662- 1670.

RkJQdWJsaXNoZXIy MTk4NDMw