A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)
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概要
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A 71-year-old man developed postural tremor and was treated as an essential tremor patient. Nine years after the tremor onset, he developed symptoms resembling Fragile-X-associated tremor/ataxia syndrome (FXTAS), including exacerbated (increased coarseness and amplitude) tremor in the right arm, ataxic gait, and brain MRI showed lesions in the bilateral middle cerebellar peduncles (MCP). Evidence of premutation in the form of 83 CGG repeats of the Fragile-X-mental retardation 1 (FMR1) gene confirmed the diagnosis of FXTAS. FXTAS causes various neurological symptoms including in some cases tremor resembling essential tremor in the early stages. FMR1 gene premutation should be checked when the patient develops intention tremor, cerebral dysfunction and/or a brain MRI shows MCP lesions.
著者
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Tamaoka Akira
Department Of Neurology Institute Of Clinical Medicine University Of Tsukuba
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Ishii Kazuhiro
Department Of Cell Biology Institute For Virus Research Kyoto University
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Hosaka Ai
Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan
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Nanba Eiji
Research Center for Bioscience and Technology, Tottori University
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Adachi Kaori
Research Center for Bioscience and Technology, Tottori University
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