Movement Disorders Clinical Practice 2018-Mar-Apr
Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.
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Method
All family members underwent careful neurologic examination. Exome sequencing was performed and ATP13A2 variation genotyped in all family members.Results
Cognitive deficits, hypokinesia, rigidity, spasticity, brisk deep tendon reflexes, upward gaze palsy, tremor, and facial-faucial-finger mini-myoclonus were the common manifestations of all affected siblings. Two cases had seizure and the most severely affected sibling demonstrated severe action myoclonus. Exome sequencing identified a homozygous nonsense mutation c.2455C>T;p.Arg819* in ATP13A2 gene.