A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI
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概要
- 論文の詳細を見る
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic movements and hyperreflexia. The findings of MRI not only showed cerebellar and cerebral atrophy, but also revealed putaminal rim hyperintensity on T2-weighted images. We identified a heterozygously expanded CAG/CAA repeat (45/36) within the TATA-binding protein gene, leading to a diagnosis of SCA17. These results show that a 45 CAG/CAA repeat is pathological, giving rise to early-onset SCA17.
著者
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Suzuki Chieko
Department Of Gastroenterology And Hepatology Yamaguchi University School Of Medicine
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Ikeda Yoshio
Department of Cardiology, Tachikawa General Hospital
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Shoji Mikio
Department Of Neurology Graduate School Of Medicine And Dentistry Okayama Univeristy
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TOMIYAMA Masahiko
Department of Neurological Science, Institute of Brain Science, Hirosaki University School of Medici
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KIMURA Tamaki
Department of Neurological Science, Institute of Brain Science, Hirosaki University School of Medici
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Matsubara Etsuro
Department Of Neurology Division Of Neuroscience Biophysical Science Okayama University Graduate Sch
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Watanabe Mitsunori
Department Of Neurology Gunma University School Of Medicine
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Kawarabayashi Takeshi
Department Of Neurology Division Of Neuroscience Biophysical Science Okayama University Graduate Sch
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Miki Yasuo
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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MIKI YASUO
Department of Legal Medicine, Kurume University School of Medicine
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Monai Natsuki
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Jackson Mandy
Centre for Neuroscience, University of Edinburgh
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Yamamoto-Watanabe Yukiko
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Seino Yusuke
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Wakasaya Yasuhito
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Jackson Mandy
Centre for Integrative Physiology, University of Edinburgh
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Wakasaya Yasuhito
Department of Neurology, Hirosaki University Graduate School of Medicine
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Yamamoto-Watanabe Yukiko
Department of Neurology, Hirosaki University Graduate School of Medicine
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Kawarabayashi Takeshi
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Tomiyama Masahiko
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Ikeda Yoshio
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
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Suzuki Chieko
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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Kimura Tamaki
Department of Neurology, Institute of Brain Science, Hirosaki University Graduate School of Medicine
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