Main features are cerebellar ataxia, spasticity and impaired proprioception and vibration sense due to involvement of the dorsal columns and pyramidal tracts of the spinal cord. Tremor and dysarthria may occur. Epileptic seizures and cognitive dysfunction can occur, especially in earlier-onset, more severe forms. In later-onset disease progression is slow, over years to decades. A very severe antenatal-neonatal presentation with severe developmental delay, cerebral atrophy and early death has been described.
DARS2