Oculopharyngeal Muscular Dystrophy Associated with Dementia
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概要
- 論文の詳細を見る
We report genetically confirmed heterozygote oculopharyngeal muscular dystrophy (OPMD) accompanied by dementia, suggesting a possible causal association between OPMD and dementia. The proband first noticed bilateral ptosis, dysphagia, and proximal dominant muscle weakness in the lower extremities at age 53. Ten years later, she was found to have dementia with a score of 10/30 on the mini-mental state examination (MMSE). On PABPN1 gene analysis, the GCN repeat was expanded 17 times in one allele. In addition, the probands younger brother exhibited myopathy and dementia. To our knowledge, this is the first report of genetically confirmed heterozygote OPMD associated with dementia.
著者
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MINAMI Narihiro
National Center Hospital for Mental, Nervous, and Muscular Disorders National Center of Neurology an
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Nonaka Ikuya
National Center For Nervous. Mental And Musculor Disorders
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Amano Takahiro
Department Of Electrical And Electronic Engineering Tokyo Institute Of Technology
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Nishino Ichizo
National Center Of Neurology And Psychiatry
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Yamamoto Toshimasa
Department Of Medical Microbiology And Immunology University Of South Florida College Of Medicine
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Araki Nobuo
Department Of Neurology Keio University School Of Medicine
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Ohkuma Aya
Department Of Neurology Saitama Medical School
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Tamura Naotoshi
Department Of Neurology Saitama Medical School
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Nonaka Ikuya
National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
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Mizoi Yoshikazu
Department of Neurology, Faculty of Medicine, Saitama Medical University, Japan
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Minami Narihiro
National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan
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Amano Takahiro
Department of Medical Educational Center, Faculty of Medicine, Keio University, Japan
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