The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins
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- Sawada Jun
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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- Katayama Takayuki
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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- Tokashiki Takashi
- Department of Neurology, National Hospital Organization Okinawa Hospital, Japan
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- Kikuchi Shiori
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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- Kano Kohei
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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- Takahashi Kae
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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- Saito Tsukasa
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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- Adachi Yoshiki
- Department of Neurology, National Hospital Organization Matsue Medical Center, Japan
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- Okamoto Yuji
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
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- Yoshimura Akiko
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
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- Takashima Hiroshi
- Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
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- Hasebe Naoyuki
- Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan
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説明
<p>Spinocerebellar ataxia type 8 (SCA8) is a rare hereditary cerebellar ataxia showing mainly pure cerebellar ataxia. We herein report cases of SCA8 in Japanese monozygotic twins that presented with nystagmus, dysarthria, and limb and truncal ataxia. Their ATXN8OS CTA/CTG repeats were 25/97. They showed similar manifestations, clinical courses, and cerebellar atrophy on magnetic resonance imaging. Some of their pedigrees had nystagmus but not ataxia. These are the first monozygotic twins with SCA8 to be reported anywhere in the world. Although not all subjects with the ATXN8OS CTG expansion develop cerebellar ataxia, these cases suggest the pathogenesis of ATXN8OS repeat expansions in hereditary cerebellar ataxia. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 59 (2), 277-283, 2020-01-15
一般社団法人 日本内科学会
