Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea
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- STATUS
- Recruiting
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- End date
- Dec 31, 2026
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- participants needed
- 100
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- sponsor
- Seoul National University Hospital
Summary
The aim of this study is to assess the prognosis of paroxysmal kinesigenic choreoathetosis (PKC) in Korean.
Description
PKC is a hyperkinetic movement disorder including dystonia, chorea, athetosis, or ballism, which are characteristically triggered by a sudden movement from rest. The prevalence of this disorder is estimated to be 1 in 150,000 population. Males are more commonly affected than females, and the age of onset is typically in childhood or adolescence. PKC is mainly a familial disorder with autosomal dominant inheritance and incomplete penetrance, but it can occur sporadically. The PRRT2 (proline-rich transmembrane protein 2) gene is believed to be the major causative gene.
The prognosis of PKC is usually favorable. The severity and frequency of the attacks are reduced by anticonvulsant medication such as carbamazepine, and the number of the attacks decreases at the age of 20-30 years. However, there has been little study of long-term prognosis of PKC, and no study has been conducted in Korean population.
Details
| Condition | Paroxysmal Kinesigenic Choreoathetosis |
|---|---|
| Clinical Study Identifier | NCT04023656 |
| Sponsor | Seoul National University Hospital |
| Last Modified on | 12 February 2022 |
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