Autosomal Recessive Cerebellar Ataxia with Spasticity due to a Rare Mutation in GBA2 Gene in a Large Consanguineous Saudi Family

ConclusionAutosomal recessive cerebellar ataxia with spasticity is an extremely rare genetic disorder with very few cases reported in the literature. We conclude that the c.2617G>A mutation in GBA2 gene causes the loss of function with abolishment of the enzymatic activity that causes the disease. This report adds further evidence to support the pathogenicity of this variant. The patients had the classical clinical phenotype of cerebellar ataxia and spasticity consistent with previous reports in the literature.
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research