The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of 
glucosylceramide to glucose and ceramide. Loss of GBA2 function results in 
accumulation of glucosylceramide. Mutations in the human GBA2 gene have been 
associated with hereditary spastic paraplegia (HSP) and autosomal-recessive 
cerebellar ataxia (ARCA). Patients suffering from these disorders exhibit 
impaired locomotion and neurological abnormalities. GBA2 mutations found in 
these patients have been proposed to impair GBA2 function. However, the 
molecular mechanism underlying the occurrence of mutations in the GBA2 gene and 
the development of locomotor dysfunction is not well-understood. In this review, 
we aim to summarize recent findings regarding mutations in the GBA2 gene and 
their impact on GBA2 function in health and disease.