Autosomal recessive mutations affecting the four distinct human vacuolar protein sorting–associated protein 13 (VPS13) isoforms (A–D) have been identified as causative factors in diverse neurological disorders. Specifically, mutations in VPS13A are linked to chorea-acanthocytosis, while VPS13B mutations are associated with Cohen syndrome. Moreover, mutations in VPS13C and VPS13D are implicated in rapidly progressive, early onset Parkinson’s disease and spastic ataxia, respectively [1].

The VPS13D gene encodes a ubiquitously expressed protein that plays a pivotal role in regulating mitochondrial dynamics, autophagy, and clearance mechanisms within cells. Clinically, individuals harboring VPS13D mutations exhibit a spectrum of manifestations, including ataxic gait accompanied by spasticity, hyperreflexia, and a variable age at onset ranging from childhood to adulthood. Additional clinical features encompass dysarthria, oculomotor abnormalities, sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy evident on imaging. This comprehensive understanding of the clinical spectrum associated with VPS13D mutations sheds light on the intricate interplay of cellular processes underlying the pathogenesis of these neurological conditions [2].

This article presents a noteworthy discovery involving the identification of a novel mutation within the VPS13D gene. The study focuses on a young female Saudi patient who presents with progressive ataxia and spastic paraparesis, adding a significant contribution to the elucidation of genetic etiologies associated with such neurological conditions. This novel mutation in the VPS13D gene expands our knowledge of the genetic landscape underlying ataxic disorders, providing valuable insights that may have implications for both diagnostic practices and potential therapeutic interventions. The findings underscore the importance of continued research in unraveling the intricacies of genetic mutations and their role in the manifestation of neurological symptoms.