Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation

Kufor-Rakeb syndrome (KRS, MIM 606693), also known as PARK9-linked parkinsonism, is a juvenile-onset autosomal recessive levodopa-responsive parkinsonism associated with the clinical triad of spasticity, supranuclear gaze palsy and dementia [1]. Other features include dystonia, bulbar signs, facial-faucial-finger minimyoclonus, and visual/auditory hallucinations. Ataxia and seizures may also occur. KRS exhibits considerable clinical heterogeneity even among family members carrying the same mutation.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research