Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum.

The article discusses a case study of a 20-year-old male patient with genetically proven Salih ataxia due to a novel truncating variant in the RUBCN gene. The patient presented with seizures, intellectual disability, and tremulousness of both upper limbs, among other symptoms. The study expands the phenotypic and genotypic spectrum of SCAR15, a rare disorder characterized by early-onset ataxia, cognitive impairment, and dysarthria. The identified variant in the RUBCN gene is classified as likely pathogenic, leading to endolysosomal machinery defects and impacting autophagy and lipid metabolism. The article highlights the importance of considering RUBCN-related ataxia in patients with childhood-onset ataxia, dystonia, epilepsy, and intellectual disability, especially when cerebellar atrophy is absent. [Extracted from the article]