Spinocerebellar Ataxia Type 31 with Blepharospasm.
Intern Med
; 57(11): 1651-1654, 2018 Jun 01.
Article
de En
| MEDLINE
| ID: mdl-29434122
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Blépharospasme
/
Ataxie cérébelleuse
/
Ataxies spinocérébelleuses
/
Protéines de tissu nerveux
Type d'étude:
Prognostic_studies
Limites:
Humans
/
Male
/
Middle aged
Langue:
En
Journal:
Intern Med
Sujet du journal:
MEDICINA INTERNA
Année:
2018
Type de document:
Article
Pays d'affiliation:
Japon