A Japanese Case of Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS)

DOI Web Site 被引用文献3件 参考文献22件
  • Ishii Kazuhiro
    Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba
  • Hosaka Ai
    Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba
  • Adachi Kaori
    Research Center for Bioscience and Technology, Tottori University
  • Nanba Eiji
    Research Center for Bioscience and Technology, Tottori University
  • Tamaoka Akira
    Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba

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抄録

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.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 49 (12), 1205-1208, 2010

    一般社団法人 日本内科学会

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