Mutations in STUB1 in homozygous or compound heterozygous states were originally reported to cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16), with widespread neurodegeneration manifesting as an ataxic gait disorder combined with a wide spectrum of phenotypes, including epilepsy, cognitive decline, chorea, pyramidal sign, sensory polyneuropathy, and hypogonadism, also known as Gordon Holmes syndrome [8, 9]. This evidence concerns the gene STUB1 and autosomal recessive spinocerebellar ataxia 16.