Spinocerebellar Ataxia 40 (SCA40)

Spinocerebellar Ataxia 40, also known as spinocerebellar ataxia type 40, is related to choreatic disease and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 40 is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways are CREB Pathway and MAPK signaling pathway. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are hyperreflexia and dysarthria