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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Detalles Bibliográficos
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
Descripción
Sumario: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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