The onset of SCAR10 is mostly in young adulthood, although it varies from 13 to 45 years old. The main clinical features described thus far include progressive gait, limb and trunk ataxia, ocular movement impairments, such as horizontal, vertical, downbeat nystagmus, and hypermetric saccades, dysarthria, and brisk knee reflexes. Additional rare features include progressive cognitive decline, proximal lower limb muscle wasting and fasciculations, motor neuron involvement as indicated by electromyography, pes cavus, retinal degeneration, cataracts and epilepsy. Low CoQ10 levels were detected in some cases as well. Brain imaging demonstrated pronounced cerebellar atrophy and normal supratentorial structures.
ANO10