Rinsho Shinkeigaku (Clinical Neurology)

Case Report

An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures

Yasuto Tanabe, M.D., Ph.D.1)2), Takumi Taira, M.D.1)†, Akihiro Shimotake, M.D., Ph.D.3), Takeshi Inoue, M.D.1)4), Tomonari Awaya, M.D., Ph.D.5)6), Takeo Kato, M.D., Ph.D.5)7), Akira Kuzuya, M.D., Ph.D.1), Akio Ikeda, M.D., Ph.D., FACNS3) and Ryosuke Takahashi, M.D., Ph.D.1)

1)Department of Neurology, Kyoto University Graduate School of Medicine
2)Present address: Department of Neurology, Osaka Saiseikai Nakatsu Hospital
3)Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
4)Present address: Department of Pediatric Neurology, Osaka City General Hospital
5)Department of Pediatrics, Kyoto University Graduate School of Medicine
6)Present address: Department of Anatomy and Developmental Biology, Drug Discovery Department for Skin and Brain Disorders, Kyoto University Graduate School of Medicine
7)Present address: Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center
deceased in 2017

A 21-year-old woman presented with a chief complaint of generalized tonic-clonic seizures occurring once a month at night since the age of 14. The patient was treated with clonazepam plus levetiracetam, but seizure frequency was not reduced. After the detailed re-examination of her history of illness, it was revealed that she has been suffering from transient and recurrent choreoathetoid attacks triggered by sudden voluntary movements since she was a junior high school student, and it recently increased in frequency. Neither she nor her family recognize that it was significant to describe to the doctors. She was diagnosed as a complex of paroxysmal kinesigenic choreoathetosis (PKC) and its related conditions. Direct sequencing of proline-rich transmembrane protein 2 (PRRT2) revealed the most frequently described gene mutation, (NM_145239.2:c.649dupC), among PRRT2-related paroxysmal disorders. PKC and seizures were readily controlled with small dose of carbamazepine. Given the broad spectrum of PRRT2-related paroxysmal disorders, assessment of potential clinical complication of paroxysmal disorders including PKC might therefore be critical.
Full Text of this Article in Japanese PDF (643K)

(CLINICA NEUROL, 59: 144|148, 2019)
key words: paroxysmal kinesigenic choreoathetosis (PKC), generalized tonic-clonic seizure (GTCS), proline-rich transmembrane protein 2 (PRRT2), epilepsy

(Received: 14-Oct-18)