Autosomal recessive cerebellar ataxia

A group of rare early-onset ataxias with dementia characterized by degeneration or abnormal development of the cerebellum and spinal cord. It is a heterogeneous group including disorders that involves both the central and peripheral nervous system (and in some cases other systems and organs), therefore besides ataxia, patients often present with polyneuropathy and clinical symptoms outside the nervous system. It comprises more than half of the known genetic forms of ataxia including congenital a