Kagoshima University · Graduate School of Medical and Dental Sciences

Research keywordschorea-acanthocytosis・McLeod syndrome・neuroacanthocytosis・repeat expansion disorders・movement disorder genetics

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• Yuka Urata, Masayuki Nakamura*, Nari Shiokawa, Aiko Yasuniwa, Nagisa Takamori, Kensuke Imamura, Takehiro Hayashi, Takanori Ishizuka, Motofumi Kasugai and Akira Sano . Sleep Disorders i2020 · 記述言語： 英語 掲載種別： 研究論文（学術雑誌） Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual deficits presented in many patients with DM1. In addition, psychosocial issues caused by neuropsychiatric symptoms are a clinical problem. We herein present the cases of four DM1 patients with sleep disturbances and neuropsychiatric symptoms in the preceding stage of clinically significant muscle symptoms. One of the cases exhibited a sleep disorder and neuropsychiatric symptoms before electromyography showed myotonic discharge, suggesting that careful follow-up is also important. Patients 1 and 2 were first referred to our department due to daytime sleepiness. Patients 3 and 4 were objectively suffering from daytime sleepiness of which they were not subjectively aware of. Patients 1, 3, and 4 obtained high apnea–hypopnea index (AHI) scores, which reflected central and/or obstructive apnea, whereas patient 2 had an AHI score of zero. The daytime cerebrospinal fluid (CSF) orexin levels of all patients ranged from the normal lower limit to low, although they were not as low as those observed in narcolepsy with typical cataplexy. Neuropsychological tests of patients 1 and 2 showed frontal lobe dysfunction. Patients 3 and 4 were diagnosed with mild intellectual disability and autism spectrum disorder, respectively. All patients exhibited indifference toward their own symptoms, which may have resulted from the cognitive decline caused by DM1. Based on family history and/or neurological findings such as myotonia, we suspected DM1 as the cause of their sleep disturbances. Molecular analysis using the triplet repeat-primed polymerase chain reaction (TP PCR) method and Southern blotting, which provided a genetic confirmation of the diagnosis of DM1, were performed. These clinical features of sleep disturbances were unrelated to the length of CTG repeats and are caused by unknown molecular mechanisms. Clinicians should take into account that multisystem involvement in DM1 is hugely variable, and thus, a disabling sleep disorder could overshadow muscle impairment in DM1 patients. DOI： 10.3389/fneur.2020.00012
• Yuka Urata, MD, Masayuki Nakamura, MD, PhD, Natsuki Sasaki, MD, PhD, Nari Shiokawa, MD, PhD, Yoshiaki Nishida, MD, Kaoru Arai, MD, Hanae Hiwatashi, MS, Izumi Yokoyama, BS, Shinsuke Narumi, MD, Yasuo Terayama, MD, PhD, Takenobu Murakami, MD, PhD, Yoshikazu Ugawa, MD, PhD, Hiroki Sakamoto, MD, Satoshi Kaneko, MD, PhD, Yusuke Nakazawa, MD, Ryo Yamasaki, MD, PhD, Shoko Sadashima, MD, Toshiaki Sakai, MD, Hiroaki Arai, MD, and Akira Sano, MD, PhD2019 · 記述言語： 英語 掲載種別： 学位論文（博士）
• Nishida Y. . Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis . Neurology: Genetics5 ( 3 ) e332 2019年62019 · 出版者・発行元： Neurology: Genetics DOI： 10.1212/NXG.0000000000000332 Scopus PubMed
• Nagata O. . Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial she2018 · 出版者・発行元： Biochemical and Biophysical Research Communications DOI： 10.1016/j.bbrc.2018.06.096 Scopus PubMed

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