Desvendando a ataxia espinocerebelar tipo 4
Escrito por: Fabiano de Oliveira Poswar em 21 de maio de 2024
3 min de leitura
Referências
Gardner, K. (1994). Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred. Neurology, 44(2), A361.
Figueroa, K. P., Gross, C., Buena-Atienza, E., Paul, S., Gandelman, M., Kakar, N., … & Pulst, S. M. (2024). A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy. Nature Genetics, 1-10.
Wallenius, J., Kafantari, E., Jhaveri, E., Gorcenco, S., Ameur, A., Karremo, C., … & Puschmann, A. (2024). Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease. The American Journal of Human Genetics, 111(1), 82-95.
Chen, Z., Gustavsson, E. K., Macpherson, H., Anderson, C., Clarkson, C., Rocca, C., … & Ptáček, L. J. (2024). Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4. Movement disorders.