Spinocerebellar Ataxia Type 31 with Blepharospasm

Sakiko Itaya; Zen Kobayashi; Kokoro Ozaki; Nozomu Sato; Yoshiyuki Numasawa; Kinya Ishikawa; Takanori Yokota; Hiroshi Matsuda; Shuzo Shintani

doi:10.2169/internalmedicine.0068-17

CASE REPORTS

Spinocerebellar Ataxia Type 31 with Blepharospasm

Sakiko Itaya, Zen Kobayashi, Kokoro Ozaki, Nozomu Sato, Yoshiyuki Numasawa, Kinya Ishikawa, Takanori Yokota, Hiroshi Matsuda, Shuzo Shintani

Author information

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

Keywords: blepharospasm, SPECT, spinocerebellar ataxia type 31 (SCA31), three-dimensional stereotaxic ROI template (3DSRT)

JOURNAL OPEN ACCESS
Supplementary material

2018 Volume 57 Issue 11 Pages 1651-1654

DOI https://doi.org/10.2169/internalmedicine.0068-17

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Abstract

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.

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