| Main clinical features
|
childhood-onset cerebellar ataxia and learning difficulties
progressive neurologic disorder with insidious onset of motor symptoms in adulthood with gait difficulties, parkinsonism, pyramidal signs, and dysarthria; also frequent cognitive decline or memory impairment
at adulthood severe speech hypophonia, dysphagia, hypomimia, reduced vertical up gaze, orofacial dyskinesias, slow and reduced tongue movements with bradykinesia, and dystonic limb posturing
brain imaging shows extensive calcifications in various brain regions including the basal ganglia, thalamus, and cerebellum |