- Parkinson's Disease Mechanisms and Treatments
- Neurological disorders and treatments
- Restless Legs Syndrome Research
- Obstructive Sleep Apnea Research
- Botulinum Toxin and Related Neurological Disorders
- Neuroscience of respiration and sleep
- Mitochondrial Function and Pathology
- Balance, Gait, and Falls Prevention
- Sleep and Wakefulness Research
- Genetic Neurodegenerative Diseases
- Cardiovascular and Diving-Related Complications
- Congenital Heart Disease Studies
- Functional Brain Connectivity Studies
- EEG and Brain-Computer Interfaces
- Sleep and related disorders
- Hereditary Neurological Disorders
- Vascular anomalies and interventions
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Peripheral Nerve Disorders
- Infectious Encephalopathies and Encephalitis
- Orthopedic Surgery and Rehabilitation
- Toxoplasma gondii Research Studies
- Cerebral Palsy and Movement Disorders
- Transcranial Magnetic Stimulation Studies
Samsung Medical Center
2015-2022
Sungkyunkwan University
2015-2022
Although the KMT2B gene was identified as a causative for early-onset generalized dystonia, efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe 28-year-old woman who developed with developmental delay, microcephaly, short stature, and cognitive decline. She diagnosed KMT2B- related using whole-exome sequencing heterozygous frameshift insertion c.515dupC (p.T172fs) gene. Oral medications botulinum toxin injection were...
Although iron dyshomeostasis is associated with Parkinson's disease (PD) pathogenesis, the relationship between deposition and non-motor involvement in PD not fully understood. In this study, we investigated basal ganglia extra-basal system contents their correlation symptoms drug-naïve, early-stage patients.We enrolled 14 patients 12 age/sex-matched normal controls. All participants underwent brain magnetic resonance imaging to obtain effective transverse relaxation rate (R2*) quantitative...
Despite the clinical impact of non-motor symptoms (NMS) in Parkinson's disease (PD), characteristic NMS relation to motor subtypes PD is not well elucidated. In this study, we enrolled drug-naïve patients and compared between subtypes. We 136 drug-naïve, early 50 normal controls. All were divided into tremor dominant (TD) non-tremor (NTD) The Non-Motor Symptom Scale scales for each completed. relationship with quality life controls patients, Comparing controls, complained more NMS,...
Background:Fatigue is a common and disabling non-motor symptom in Parkinson's disease (PD). Autonomic dysfunction suggested as the possible pathophysiology of fatigue, but it has not been investigated drug-naïve PD patients. Objective:In present study, relationship between fatigue autonomic patients was investigated. Methods:In 89 were analyzed. The scale (PFS) used to divide into (mean PFS≥3.3) non-fatigue groups PFS < 3.3). function test (AFT), Scale for Outcomes Disease-Autonomic...
Toxoplasmosis is a rare disease caused by intracellular protozoan parasite, Toxoplasma gondii.Though most patients with toxoplasmosis are asymptomatic, congenital in the fetus can cause ocular involvement such as chorioretinitis and central nervous system including intracerebral calcification, nystagmus, hydrocephalus microcephaly.Also, these brain lesions seizure secondarily.Our patient was diagnosed toxoplasmosis, based on toxoplasma-specific serologic test typical clinical symptoms,...
BACKGROUND AND PURPOSE Spinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and helpful in differentiating SCA subtypes. However, there few reports on early-stage extracerebellar various This study explored clinical magnetic resonance imaging (MRI) characteristics SCAs Korean population. METHODS We retrospectively reviewed medical records genetically confirmed patients with a disease duration <5 years. Data baseline...
The "motor reserve" is an emerging concept based on the discrepancy between severity of parkinsonism and dopaminergic degeneration; however, related brain structures have not yet been elucidated.We investigated relevant to motor reserve in Parkinson's disease (PD) this study.Patients with drug-naïve, early PD were enrolled, who then underwent dopamine transporter (DAT) scan diffusion tensor imaging (DTI). symptoms was evaluated Unified Disease Rating Scale score bradykinesia rigidity more...
Background: Exercise is an important treatment for Parkinson's disease (PD). Therefore, recognizing determinants of exercise behavior PD based on stage essential. We sought to find whether the differ presence postural instability (PI), which indicative in PD. Methods: enrolled patients at Samsung Medical Center from September 2019 November 2020, who had ability perform [modified Hoehn and Yahr (HY) ≤ 3]. All motor non-motor symptoms were investigated. The was evaluated using Physical...
Background. Due to the clinical impact of exercise in patients with Parkinson’s disease (PD), management should include personalized and effective exercises according patient’s PD stage. We investigated detailed behaviors mild advanced compared their patterns between without postural instability (PI). Methods. enrolled from September December 2019. Clinical data on parkinsonism, behaviors, Physical Activity Scale Elderly (PASE) scores were collected PI (Hoehn–Yahr (HY) stages 1 2) (HY 3 4)....
Objectives: Hyposexuality is defined as diminished sexual drive or libido. There has been little research into the sexuality in patients with obstructive sleep apnea (OSA). We investigated prevalence and relating factors for hyposexuality OSA men. Methods: Consecutive 182 male (mean age 48.3 y) were enrolled who newly diagnosed through polysomnography. All completed Symptom checklist-90-Revised (SCL-90-R), Epworth Sleepiness Scale (ESS), Beck Depression Inventory (BDI), Anxiety (BAI)....