Individuals with SCAR4 usually present with spastic ataxic gait, and hyperreflexia of the lower limbs. It is generally a slowly progressive childhood neurological disorder beginning before 12 years old. Global developmental delay and mild intellectual disability is also common. Cerebellar atrophy, diffuse white matter T2 hyperintensities and anomalies of basal ganglia such as the caudate and putamen can be seen on brain imaging.
VPS13D