ARCA

Autosomal-recessive cerebellar ataxias (ARCA) comprise a heterogeneous group of rare degenerative and metabolic genetic diseases that share the common hallmark of progressive damage of the cerebellum and its associated tracts, often complicated by substantial additional multisystemic neuronal and non-neuronal damage. Recent next-generation sequencing techniques have allowed to identify a rapidly increasing number of novel ARCA genes, and provide many previously undiagnosed ARCA patients with a molecular diagnosis.