ABSTRACT
Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia, is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. We now report the first Korean familial case of SCA8 confirmed by genetic study.
Subject(s)
Adult , Humans , Blepharospasm , Cerebellar Ataxia , Dysarthria , Gait Ataxia , Spinocerebellar AtaxiasABSTRACT
We report a young man with congenital bilateral perisylvian syndrome (CBPS), who showed eating reflex seizures (ERS). His ERS were related to the taste of foods. The subtracted ictal SPECT co-registered to MRI (SISCOM) revealed the hyperperfusion in the insula as well as the subcortical nuclei and brainstem. The ERS in CBPS may be partially related with the taste function of the insula and SISCOM may be helpful for the localization of the epileptogenic foci in ERS.