Project leader: Naohiro Kurotaki, Nagasaki University Hospital Since the 1970s,
we have been involved in research on paroxysmal kinesigenic dyskinesia (PKD;
also known as paroxysmal kinesigenic choreoathetosis or PKC). With the cooperation
of patients, we are working to find a treatment for this disease so that PKD patients
will not have problems in social life. There has been speculation as to the involvement
of genetic mutations in PKD; but in 2011, the causative gene of PKD, namely PRRT2,
was finally revealed. Since then, we have found identical mutations in the same gene in Japanese patients with PKD, confirming that PKD is indeed caused by mutations in the
PRRT2 gene. However, we still encounter many patients without mutations in the PRRT2
gene, which suggests additional causes of PKD. Furthermore, it is noteworthy that the involvement of PRRT2 mutations in migraine and infantile spasm has been reported both
in Japan and overseas. We are extremely thankful for the support that everybody has provided.

Naohiro Kurotaki

Department of Neuropsychiatry, Unit of Translational Medicine Nagasaki University Graduate School of Biomedical Sciences