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

ABSTRACT: 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-Sjögren-Like Syndrome. In this study, we report the clinical features and genetic diagnosis of autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family. We included a large consanguineous Saudi family with a presumptive clinical diagnosis of ataxia at King Abdulaziz Medical City in Jeddah, Saudi Arabia. The family included six affected individuals and four unaffected in addition to the parents. Whole exome

SUBMITTER: Algahtani H 

PROVIDER: S-EPMC7859417 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature