Spinocerebellar Ataxia Type 31 with Blepharospasm

  • Itaya Sakiko
    Department of Neurology, JA Toride Medical Center, Japan
  • Kobayashi Zen
    Department of Neurology, JA Toride Medical Center, Japan
  • Ozaki Kokoro
    Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
  • Sato Nozomu
    Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
  • Numasawa Yoshiyuki
    Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
  • Ishikawa Kinya
    Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
  • Yokota Takanori
    Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
  • Matsuda Hiroshi
    Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Japan
  • Shintani Shuzo
    Department of Neurology, JA Toride Medical Center, Japan

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抄録

<p>A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. In addition to the ataxic dysarthria and blepharospasm, a neurological examination demonstrated slight ataxia of the trunk and lower limbs. Brain MRI demonstrated atrophy of the upper portion of the cerebellar vermis. Gene analysis established a diagnosis of spinocerebellar ataxia type 31 (SCA31). Single photon emission computed tomography (SPECT) with the three-dimensional stereotaxic ROI template (3DSRT) software program demonstrated hyperperfusion in the lenticular nucleus and thalamus. Although the association between SCA31 and blepharospasm in our patient remains unclear, we considered that this combination might be more than coincidental. </p>

収録刊行物

  • Internal Medicine

    Internal Medicine 57 (11), 1651-1654, 2018-06-01

    一般社団法人 日本内科学会

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