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Kohki Nakamura MD PhD Takehito Sasaki MD Yutaka Take MD PhD Kentaro Minami MD Mitsuho Inoue MD Chisa Asahina MD Wataru Sasaki MD Shohei Kishi MD Shingo Yoshimura MD Yoshinori Okazaki MD Hiroyuki Motoda MD PhD Katsura Niijima MD PhD Yuko Miki MD PhD Koji Goto MD PhD Kenichi Kaseno MD PhD Eiji Yamashita MD PhD Keiko Koyama MD PhD Nobusada Funabashi MD PhD Shigeto Naito MD PhD 《Journal of cardiovascular electrophysiology》2021,32(1):16-26
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Shohei Nomura Mitsuru Kashiwagi Takuya Tanabe Chizu Oba Kumiko Yanagi Tadashi Kaname Nobuhiko Okamoto Akira Ashida 《Brain & development》2021,43(4):566-570
BackgroundRapid-onset dystonia–parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms.Case reportWe describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She presented with an abrupt onset of upper limb dystonia and bradykinesia without tremor in parkinsonism, as well as dysarthria and dysphagia caused by prominent bulbar symptoms, at age 9. She had normal findings on brain magnetic resonance imaging, electroencephalography, and blood examination but was diagnosed with a psychogenic disorder. At age 10, she developed left lower limb paroxysmal stiffness with pain, and at 14, she was hospitalized due to lasting paroxysmal symptoms. Whole-exome sequencing was performed for this index case and her parents, and a de novo missense variant c.829G > A, p.Glu277Lys in ATP1A3 was identified.DiscussionThis RDP case highlights a rare clinical feature of paroxysmal dystonia that affects the lower left limb and develops after the abrupt onset of permanent dystonia. Currently, there are only three reported RDP cases associated with the same missense mutation, and we summarized the clinical features of all cases including ours, such as onset of age, time for stable, RDP score, relapse and exacerbation. Various symptoms owing to ATP1A3 mutation could develop as ATP1A3-related neurological disorders beyond classical phenotypes such as alternating hemiplegia of childhood (AHC) or RDP. Although RDP is extremely rare during childhood, it is important to understand its clinical characteristics in children. 相似文献
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Takamitsu Hattori Darson Lai Irina S. Dementieva Sherwin P. Monta?o Kohei Kurosawa Yupeng Zheng Louesa R. Akin Kalina M. ?wist-Rosowska Adrian T. Grzybowski Akiko Koide Krzysztof Krajewski Brian D. Strahl Neil L. Kelleher Alexander J. Ruthenburg Shohei Koide 《Proceedings of the National Academy of Sciences of the United States of America》2016,113(8):2092-2097
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