Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea

  • STATUS
    Recruiting
  • End date
    Dec 31, 2026
  • participants needed
    100
  • sponsor
    Seoul National University Hospital
Updated on 12 February 2022

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 IdentifierNCT04023656
SponsorSeoul National University Hospital
Last Modified on12 February 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Male or female PKC patients who were18 years of age and older
Subjects were diagnosed as paroxysmal kinesigenic choreoathetosis (PKC)
Subjects were enrolled voluntarily and understood the contents of this trial

Exclusion Criteria

Existence of lesions on the brain
Existence of neurological deficit that suspected lesions on the brain
Existence of epileptiform discharges on electroencephalogram
Subjects with secondary PKC which was caused by other disorder or illness
Existence of illness or problems which made difficult to be enrolled to this trial judged by clinicians
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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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