PEX10 mutation; Autosomal recessive cerebellar ataxia

Abstract

Objective: Peroxisomal biogenesis disorders typically cause multisystem disease which is characterized clinically by severe global neurological involvement and a variable severity of dysmorphism, retinitis pigmentosa, sensorineural deafness, liver disease, and other systemic features, including death in infancy or early childhood. They are also known as the Zellweger spectrum disorders. Methods: Results: We report twosibling patients of normal intelligence with cerebellar atrophy, slowly progressive ataxia, neuropathy and, hearing loss. In both patients, mutations in PEX10 gene were found. Conclusion: Peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia.