Sung-Sup Park

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Fetus-in-fetu is a very rare condition in which one fetus is contained within another. About 100 cases have been reported, and in most of these the fetus was located in the retroperitoneum. The authors describe an extremely rare case of an intracranial fetus-in-fetu in an extraaxial location. This is the eighth intracranial fetus-in-fetu to be reported, the(More)
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)
The long QT syndrome (LQTS) is a rare hereditary disorder in which affected individuals have a possibility of ventricular tachyarrhythmia and sudden cardiac death. We investigated 62 LQTS (QTc ≥ 0.47 sec) and 19 family members whose genetic study revealed mutation of LQT gene. In the proband group, the modes of presentation were ECG abnormality (38.7%),(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)
such as α-synuclein, parkin, UCHL1, Pink-1, DJ-1 have been identified. 1 The discovery of such genetic abnormalities has provided insights into the molecular pathogenesis of PD. These mutations are usually found in the familial cases. Recently, mutations in the LRRK2 gene have been reported to cause autosomal dominant PD (PARK8). 2,3 The locus, PARK8 on(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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