Spinocerebellar Ataxia Type 31 with Blepharospasm

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 upp...

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Autores principales: Itaya, Sakiko, Kobayashi, Zen, Ozaki, Kokoro, Sato, Nozomu, Numasawa, Yoshiyuki, Ishikawa, Kinya, Yokota, Takanori, Matsuda, Hiroshi, Shintani, Shuzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028682/
https://www.ncbi.nlm.nih.gov/pubmed/29434122
http://dx.doi.org/10.2169/internalmedicine.0068-17
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author Itaya, Sakiko
Kobayashi, Zen
Ozaki, Kokoro
Sato, Nozomu
Numasawa, Yoshiyuki
Ishikawa, Kinya
Yokota, Takanori
Matsuda, Hiroshi
Shintani, Shuzo
author_facet Itaya, Sakiko
Kobayashi, Zen
Ozaki, Kokoro
Sato, Nozomu
Numasawa, Yoshiyuki
Ishikawa, Kinya
Yokota, Takanori
Matsuda, Hiroshi
Shintani, Shuzo
author_sort Itaya, Sakiko
collection PubMed
description 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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spelling pubmed-60286822018-07-03 Spinocerebellar Ataxia Type 31 with Blepharospasm Itaya, Sakiko Kobayashi, Zen Ozaki, Kokoro Sato, Nozomu Numasawa, Yoshiyuki Ishikawa, Kinya Yokota, Takanori Matsuda, Hiroshi Shintani, Shuzo Intern Med Case Report 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. The Japanese Society of Internal Medicine 2018-02-09 2018-06-01 /pmc/articles/PMC6028682/ /pubmed/29434122 http://dx.doi.org/10.2169/internalmedicine.0068-17 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Itaya, Sakiko
Kobayashi, Zen
Ozaki, Kokoro
Sato, Nozomu
Numasawa, Yoshiyuki
Ishikawa, Kinya
Yokota, Takanori
Matsuda, Hiroshi
Shintani, Shuzo
Spinocerebellar Ataxia Type 31 with Blepharospasm
title Spinocerebellar Ataxia Type 31 with Blepharospasm
title_full Spinocerebellar Ataxia Type 31 with Blepharospasm
title_fullStr Spinocerebellar Ataxia Type 31 with Blepharospasm
title_full_unstemmed Spinocerebellar Ataxia Type 31 with Blepharospasm
title_short Spinocerebellar Ataxia Type 31 with Blepharospasm
title_sort spinocerebellar ataxia type 31 with blepharospasm
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028682/
https://www.ncbi.nlm.nih.gov/pubmed/29434122
http://dx.doi.org/10.2169/internalmedicine.0068-17
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