EP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant

Abstract

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders that affect the corticospinal (pyramidal) tract neurons resulting in spasticity as a main presentation. HSP can be dominant or recessive in inheritance and are further classified into more than 80 subtypes based on specific genotype. In contrast to pure HSP, complicated HSP is associated with neurological manifestations besides the spasticity. HSP Type 46 is autosomal recessive and is due to biallelic pathogenic variants in GBA2 gene, which encodes for a non-lysosomal glucosylceramidase.