Autosomal recessive cerebellar ataxia type 1

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement.

People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both.

[2] Mutations in subunit of the mitochondrial DNA polymerase (POLG) have been found to be a potential cause of autosomal recessive cerebellar ataxia.

Deformed Syne-1 protein disrupts normal Purkinje cell functions and impairs its signalling with cerebellar neurons.

[citation needed] This article incorporates text from the United States National Library of Medicine, which is in the public domain.