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Spinocerebellar Ataxia Type 31 with Blepharospasm
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- Itaya Sakiko
- Department of Neurology, JA Toride Medical Center, Japan
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- Kobayashi Zen
- Department of Neurology, JA Toride Medical Center, Japan
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- Ozaki Kokoro
- Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
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- Sato Nozomu
- Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
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- Numasawa Yoshiyuki
- Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
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- Ishikawa Kinya
- Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
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- Yokota Takanori
- Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan
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- Matsuda Hiroshi
- Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Japan
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- Shintani Shuzo
- Department of Neurology, JA Toride Medical Center, Japan
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Description
<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>
Journal
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- Internal Medicine
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Internal Medicine 57 (11), 1651-1654, 2018-06-01
The Japanese Society of Internal Medicine
