Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3

24 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome mutation is a rare previously reported pathologic mutation along with the mutation in CEP41 gene. The significance of the later gene’s mutation in the illness of the patient is yet to be discovered. Our findings support a connection between juvenile gangliosiodis type II patients' ataxia and neurodegeneration and the GLB1 gene mutation. R eferences R éférences R eferencias 1. Caciotti, A., Garman, S. C., Rivera-Colon, Y., Procopio, E., Catarzi, S., Ferri, L., et al. (2011). GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim. Biophys. Acta 1812, 782–790. doi: 10.1016/j.bbadis. 2011.03.018 2. Jarnes Utz, J. R., Kim, S., King, K., Ziegler, R., Schema, L., Redtree, E. S., et al. (2017). Infantile gangliosidoses: mapping a timeline of clinical changes. Mol. Genet. Metab. 121, 170–179. doi: 10.1016/j.ymgme.2017.04.011 3. Jeyakumar M, Thomas R, Elliot ‐ Smith E, Smith D, Van Der Spoel A, d’Azzo A, Perry VH, Butters T, Dwek R, Platt F. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain. 2003; 126(4): 974–87. doi: 10.1093/brain/ awg089. 4. Armstrong-Javors A, Chu CJ. Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis. Neurology. 2014; 83 (17): e166–8. doi: 10.1212/ WNL.0000000000000912. 5. Wolfe LS, Senior RG, Kin NNY. The structures of oligosaccharides accumulating in the liver of GM1- gangliosidosis, type I. J Biol Chem. 1974; 249(6): 1828–38. 6. Acosta W, Martin R, Radin DN, Cramer CL. High- throughput imaging method for direct assessment of GM1 ganglioside levels in mammalian cells. Data Brief. 2016; 6: 1016–22. doi: 10.1016/j.dib.2016. 01.027. 7. Yoshida K, Oshima A, Shimmoto M, Fukuhara Y, Sakuraba H, Yanagisawa N, Suzuki Y. Human beta- galactosidase gene mutations in GM1- gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet. 1991; 49(2): 435–42.