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

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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Bibliographic Details
Main Authors: Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2021-01-01
Series:Genes and Diseases
Subjects:
Ataxia with spasticity
Autosomal recessive
GBA2
Novel mutation
Saudi Arabia
Online Access:http://www.sciencedirect.com/science/article/pii/S2352304219300534

Internet

http://www.sciencedirect.com/science/article/pii/S2352304219300534

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