An adult female with proline-rich transmembrane protein 2 related paroxysmal disorders manifesting paroxysmal kinesigenic choreoathetosis and epileptic seizures
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- Tanabe Yasuto
- Department of Neurology, Kyoto University Graduate School of Medicine Present address: Department of Neurology, Osaka Saiseikai Nakatsu Hospital
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- Taira Takumi
- Department of Neurology, Kyoto University Graduate School of Medicine
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- Shimotake Akihiro
- Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
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- Inoue Takeshi
- Department of Neurology, Kyoto University Graduate School of Medicine Present address: Department of Pediatric Neurology, Osaka City General Hospital
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- Awaya Tomonari
- Department of Pediatrics, Kyoto University Graduate School of Medicine Present address: Department of Anatomy and Developmental Biology, Drug Discovery Department for Skin and Brain Disorders, Kyoto University Graduate School of Medicine
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- Kato Takeo
- Department of Pediatrics, Kyoto University Graduate School of Medicine Present address: Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center
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- Kuzuya Akira
- Department of Neurology, Kyoto University Graduate School of Medicine
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- Ikeda Akio
- Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine
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- Takahashi Ryosuke
- Department of Neurology, Kyoto University Graduate School of Medicine
Bibliographic Information
- Other Title
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- 思春期以降もてんかん発作と発作性運動誘発性舞踏アテトーゼが併存した<i>PRRT2</i>（proline-rich transmembrane protein 2）遺伝子変異の1例
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Abstract
<p>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.</p>
Journal
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- Rinsho Shinkeigaku
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Rinsho Shinkeigaku 59 (3), 144-148, 2019
Societas Neurologica Japonica