ARCA2 (autosomal recessive cerebellar ataxia type 2) is a rare cerebellar ataxia characterised by severe cerebellar atrophy and mild deficiency in Coenzyme Q10 (CoQ10), with large phenotypic variability.

Cerebellar atrophy has been reported, and appears more likely in settings of elevated phenytoin levels and/or long-term phenytoin use (see section 4.4).

Peripheral Neuropathy, Cortical Atrophy, Cerebellar Atrophy are well-known syndromes caused by alcohol consumption.

In one patient, cranial MRI showed cortical, brain stem and cerebellar atrophy, and white matter changes.

Peripheral neuropathy may be demonstrated by electromyography, whereas an MRI may pick up cerebral and cerebellar atrophy in later stages.