AI Article Synopsis
- Paroxysmal kinesigenic dyskinesia (PKD) is a condition where sudden movements trigger involuntary muscle spasms, often inherited in families.
- Researchers debate whether PKD originates from the brain's outer layer (cortex) or deeper regions, with some cases linked to a syndrome involving both PKD and benign infantile seizures.
- A family case study showed a specific genetic mutation (Arg217STOP) in a patient who exhibited abnormal brain activity patterns, suggesting that PKD might be linked to cortical brain activity.
Article Abstract
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of PKD focus on the controversy whether PKD has a cortical or non-cortical origin. A combined familial trait of PKD and benign familial infantile seizures has been reported as the infantile convulsions and paroxysmal choreoathetosis (ICCA) syndrome. Here, we report a family diagnosed with ICCA syndrome with an Arg217STOP mutation. The index patient showed interictal EEG focal changes compatible with paroxysmal dystonic movements of his contralateral leg. This might support cortical involvement in PKD.
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| http://dx.doi.org/10.1016/j.parkreldis.2012.03.006 | DOI Listing |
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