CA8-related cerebellar ataxia is associated with the following:
• Cerebellar hypoplasia or atrophy (typically superior, progressive in some)
• Dysarthria
• Hyper-reflexia
• Generalised hypotonia
• Tremor
• Global developmental delay (including delayed or absent walking)
• Intellectual disability (some)
Infants with CA8-related cerebellar ataxia demonstrate gross and fine motor delays, with generalized hypotonia, feeding difficulties with reduced oromotor coordination and visual tracking and accommodative difficulties. There is delayed or absent walking, and children/adults with the condition may demonstrate a wide-based and unsteady gait, or loss off bipedal locomotion with quadrupedal gait. Mild deep tendon hyper-reflexia has been reported.
Cerebral imaging typically demonstrates cerebellar/vermal hypoplasia, with progressive cerebellar volume loss in some. PET imaging may demonstrate hypometabolic cerebral hemispheres.
Growth and craniofacial morphology is typically normal, and there are no reported extra-neurological manifestations.
CA8