Parents

Pathogenic variants in the Anoctamin 10 gene (ANO10) have been linked to a rare, gradually worsening condition that belongs to a large group of diseases known as Autosomal Recessive Cerebellar Ataxias (ARCAs), inherited in an autosomal recessive manner as their name suggests (two copies of a pathogenic variant, one from each parent, are needed to cause disease). This disease became first known as spinocerebellar ataxia autosomal recessive 10 (SCAR10). SCAR10 was typically described to begin in adolescence or early adulthood and presents with gait and limb coordination difficulties, with marked balance impairment, slurred speech, repetitive, uncontrolled eye movements and peripheral neuropathy. Severe cerebellar atrophy was also observed on brain scans. Patients with similar symptoms but with the absence of peripheral neuropathy were also described, and a distinct disease name, the “ARCA3” (autosomal recessive ataxia type 3), was proposed to encompass this category. This rare disease has an estimated prevalence of less than 1 in 1,000,000 individuals.