Sung-Sup Park

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Duplication of alpha-synuclein gene (SNCA) is a recognized cause of Parkinson's disease (PD). However, the penetrance in families with SNCA duplication is as low as 30%, indicating that factors other than the SNCA gene dosage have an important role in neuronal death. In this study, using lymphoblastoid cell lines (LCLs) derived from a parkinsonian kindred(More)
BACKGROUND A number of causative mutations such as alpha-synuclein, parkin, UCHL1, Pink-1, DJ-1 have been identified in Parkinson's disease (PD). They are usually found in the familial cases. One mutation of great interest is the G2019S mutation in the LRRK2 gene, which has been reported in both familial and sporadic PD. Its prevalence has been reported to(More)
Esophageal candidiasis is commonly seen in immunocompromised patients; however, candida esophagitis induced stricture is a very rare complication. We report the first case of esophageal stricture secondary to candidiasis in a glycogen storage disease (GSD) 1b child. The patient was diagnosed with GSD type 1b by liver biopsy. No mutation was found in the(More)
INTRODUCTION SCA17 is an autosomal dominant cerebellar ataxia with expansion of the CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. SCA17 is diagnosed by detecting the expanded CAG repeats in the TBP gene; however, in the literature,(More)
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