Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

The nonlysosomal glucosylceramidase β2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive cerebellar ataxia with spasticity, and Marinescu-Sj...

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Detalles Bibliográficos
Autores principales: Algahtani, Hussein, Shirah, Bader, Ullah, Ikram, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman, Naseer, Muhammad Imran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2019
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859417/
https://www.ncbi.nlm.nih.gov/pubmed/33569519
http://dx.doi.org/10.1016/j.gendis.2019.07.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859417/
https://www.ncbi.nlm.nih.gov/pubmed/33569519
http://dx.doi.org/10.1016/j.gendis.2019.07.009

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