류철형 교수

Background The various medical treatments applied to myoclonus-dystonia patients with a mutation of the ε-sarcoglycan gene (SGCE) have not been beneficial in most cases. Most patients experience progressive deterioration or static clinical courses, with only rare cases of spontaneous remission. Case Report A 19-year-old girl presented with a 14-year history of myoclonus and dystonia that severely affected her left arm, neck, and trunk. Genetic studies showed a mutation in SGCE [deletion in exon

In recent years, several radiotracers that selectively bind to pathological tau proteins have been developed. Evidence is emerging that binding patterns of in vivo tau positron emission tomography (PET) studies in Alzheimer’s disease (AD) patients closely resemble the distribution patterns of known neurofibrillary tangle pathology, with the extent of tracer binding reflecting the clinical and pathological progression of AD. In Lewy body diseases (LBD), tau PET imaging has clearly revealed cortic

Neurodegeneration with brain iron accumulation (NBIA) refers to a group of rare diseases that share clinical characteristics associated with excessive iron accumulation in the basal ganglia as well as progressive neurological deficits, such as chorea, dystonia, parkinsonism and cognitive impairment.

18F-AV-1451 is a tau PET ligand that has high affinity for paired helical filament tau. However, various off-target bindings unrelatedto tau have also been reported. Herein, we report a case of 83-year-old woman, who showed abnormal uptake of AV-1451 thatwas shown to be subacute infarction. Clinicians should recognize that increased uptake of AV-1451 may be related to stroke.

Objective Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. Methods We collected genetically confirmed NBIA patients from twelve nationwide referral hos

Objective: Patients with drug-induced parkinsonism (DIP) may have nigrostriatal dopaminergic degeneration. We studied the clinical features that may indicate nigrostriatal dopaminergic degeneration in patients with DIP. Methods: Forty-one DIP patients were classified into normal and abnormal [18F] FP-CIT scan groups. Differences in 32 clinical features and drug withdrawal effects were studied. Results: Twenty-eight patients had normal (Group I) and 13 patients had abnormal (Group II) scans. Eigh

Background: Overlapping clinical features of idiopathic Parkinson's disease (IPD) and multiple system atrophy (MSA) make it difficult to conduct an accurate differential diagnosis. We performed a quantitative F18- fluorodeoxyglucose PET (FDG PET) and measured the striatal and cerebellar glucose metabolism to evaluate the efficacy of a FDG PET study in the differential diagnosis between IPD and MSA. Methods: This study included 19 patients with IPD, 28 patients with MSA (MSA-P:MSA-C=19:9) and 12

Objective: We developed a new computed tomography (CT)-based spatial normalization method and CT template to demonstrate its usefulness in spatial normalization of positron emission tomography (PET) images with [18F] fluorodeoxyglucose (FDG) PET studies in healthy controls. Materials and Methods: Seventy healthy controls underwent brain CT scan (120 KeV, 180 mAs, and 3 mm of thickness) and [18F] FDG PET scans using a PET/CT scanner. T1-weighted magnetic resonance (MR) images were acquired for al

Background: Abnormalities of the parkin gene is the most frequently found genetic abnormality in patients with sporadic young age onset of Parkinson's disease (PD). We investigated the frequency of abnormalities of the parkin gene in Korean patients with young age onset PD (YOPD). Methods: This study included 18 patients (M:F=10:8) who developed PD before the age of 45. DNA was isolated from peripheral blood leukocytes. Exonal deletion and nucleotide sequence changes in the parkin gene was searc

A patient with Parkinson's disease developed fluctuation in the deep brain stimulation (DBS) effect, an unpleasant left facial paresthesia and the left limb dystonia. Impedance of the right DBS was over 2000 ohm in three proximal contacts. Skull X-ray studies showed partial breakage of right electrode lead below the mastoid process. Partial electrode breakage must be considered when there is a deterioration of the DBS effect, an unexpected side effect of DBS, and an alteration of impedance.

Spinocerebellar ataxia type 6 (SCA6) is classified as a CAG repeat disorder, where the number of expanded CAG repeats often undergoes meiotic instability, when transmitted from one generation to the next. However, in SCA6, both normal and expanded CAG repeats tend to remain stable during transmission due to its relatively small repeat numbers. We herein report de-novo expansion of CAG repeats in SCA6 gene in a 41-year-old female patient, whose parents had normal repeat numbers.