Adult-onset spastic paraplegia associated with a novel SPTBN2 missense heterozygous variant

Excerpt

Hereditary spastic paraplegia (HSP) encompasses a heterogeneous group of neurodegenerative disorders affecting corticospinal tracts, leading to a progressive lower limbs pyramidal syndrome [1]. The introduction of next-generation (NGS) sequencing has extended the genetic underpinnings of HSP, revealing a molecular overlap between HSP and ataxic syndromes situated at opposite ends of a disease continuum [2]. Mutations in the spectrin beta non-erythrocytic 2 (SPTBN2) gene have been linked to spinocerebellar ataxia type (SCA) 5 and SCA14 [3]. Herein, we present the first case of pure spastic paraplegia associated with a novel missense heterozygous variant in the SPTBN2 gene. …