Spinocerebellar Ataxia Type 31 with Blepharospasm

Intern Med. 2018 Jun 1;57(11):1651-1654. doi: 10.2169/internalmedicine.0068-17. Epub 2018 Feb 9.

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.

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

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Blepharospasm / etiology*
  • Brain Stem / pathology
  • Cerebellar Ataxia / etiology*
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins
  • Spinocerebellar Ataxias / complications*
  • Spinocerebellar Ataxias / diagnosis*
  • Spinocerebellar Ataxias / genetics
  • Tomography, Emission-Computed, Single-Photon

Substances

  • NOP56 protein, human
  • Nerve Tissue Proteins
  • Nuclear Proteins