A5062034731- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Neurological diseases and metabolism
- RNA regulation and disease
- Nuclear Receptors and Signaling
- Lysosomal Storage Disorders Research
- Peripheral Neuropathies and Disorders
- Autophagy in Disease and Therapy
- Neuroinflammation and Neurodegeneration Mechanisms
- Hereditary Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Endoplasmic Reticulum Stress and Disease
- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- Multiple Sclerosis Research Studies
- Autism Spectrum Disorder Research
- Cerebral Palsy and Movement Disorders
- Muscle Physiology and Disorders
- Ubiquitin and proteasome pathways
- Balance, Gait, and Falls Prevention
- Botulinum Toxin and Related Neurological Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Voice and Speech Disorders
Chang Gung Memorial Hospital
2016-2025
Chang Gung University
2016-2025
Linkou Chang Gung Memorial Hospital
2016-2025
Children's Hospital of Capital Institute of Pediatrics
2025
Beijing Anding Hospital
2025
Capital Medical University
2025
Taoyuan Chang Gung Memorial Hospital
2023-2025
Memorial Hospital of South Bend
2002-2024
Kaohsiung Chang Gung Memorial Hospital
2023
University of Calabar
2023
Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain GBA ethnically diverse group disease.Sixteen centers participated our international, collaborative study: five from Americas, six Europe, two Israel, and three Asia. Each center genotyped standard DNA panel permit comparison genotyping results across centers. Genotypes phenotypic...
The antiepileptic drug phenytoin can cause cutaneous adverse reactions, ranging from maculopapular exanthema to severe which include reactions with eosinophilia and systemic symptoms, Stevens-Johnson syndrome, toxic epidermal necrolysis. pharmacogenomic basis of phenytoin-related remains unknown.To investigate the genetic factors associated reactions.Case-control study conducted in 2002-2014 among 105 cases (n=61 syndrome/toxic necrolysis n=44 symptoms), 78 exanthema, 130 phenytoin-tolerant...
Huntington's disease (HD) is a neurodegenerative disorder that manifests with movement dysfunction. The expression of mutant Huntingtin (mHTT) disrupts the functions brain cells. Galectin-3 (Gal3) lectin has not been extensively explored in diseases. Herein, we showed plasma Gal3 levels HD patients and mice correlated severity. Moreover, were higher than those controls. up-regulation occurred before motor impairment, its level remained high microglia throughout progression. cell-autonomous...
Abstract Common genetic variants that increase the risk for Parkinson's disease may differentiate patient subgroups and influence future individualized therapeutic strategies. Herein we show evidence leucine‐rich repeat kinase 2 (LRRK2) c.4883G>C (R1628P) as a factor in ethnic Chinese populations. A study of 1,986 individuals from 3 independent centers Taiwan Singapore demonstrates Lrrk2 R1628P increases (odds ratio, 1.84; 95% confidence interval, 1.20–2.83; p = 0.006). Haplotype analysis...
Background. Obstacle crossing is a balance-challenging task and can cause falls in people with Parkinson’s disease (PD). However, programs for PD that effectively target obstacle dynamic balance have not been established. Objective. To examine the effects of virtual reality–based exercise on performance participants PD. Methods. Thirty-six diagnosis (Hoehn Yahr score ranging 1 to 3) were randomly assigned one three groups. In groups, received Wii Fit (VRWii group) or traditional (TE 45...
Genome-wide association studies (GWAS) on Parkinson's disease (PD) have mostly been done in Europeans and Japanese. No study has Han Chinese, which make up nearly a fifth of the world population. We conducted first Chinese GWAS analysing total 22,729 subjects (5,125 PD cases 17,604 controls) from Singapore, Hong Kong, Malaysia, Korea, mainland China Taiwan. performed imputation, merging logistic regression analyses 2,402,394 SNPs passing quality control filters 779 cases, 13,227 controls,...
Background: Parkinson's disease (PD) is the second most common neurodegenerative disease, and α-synuclein plays a critical role in pathogenesis of PD. Studies have revealed controversial results regarding correlation between motor severity levels peripheral blood from patients with Objective: We examined plasma or serum PD investigated relationship level symptom severity. Methods: recruited 88 participants (48 40 healthy controls). Clinical information was collected, venous drawn each...
Neuroinflammation is a common feature of many neurodegenerative diseases, including Huntington's disease (HD). HD an autosomal dominant genetic caused by expanded CAG repeat in exon 1 the huntingtin (HTT) gene. Previous studies demonstrated that levels several proinflammatory cytokines, tumor necrosis factor (TNF)-α, were higher plasma and brain tissues mice patients with HD, suggesting inflammation may contribute to progression. To evaluate pathological role TNF-α pathogenesis, we blocked...
Abstract Recently, the genetic variability in lysosomal storage disorders has been implicated pathogenesis of Parkinson’s disease. Here, we found that variants prosaposin (PSAP), a rare causative gene various types disorders, are linked to Genetic mutation screening revealed three pathogenic mutations saposin D domain PSAP from families with autosomal dominant Whole-exome sequencing no other previously identified disease-causing or disorder-causing genes. A case-control association study two...
Abstract Background As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction the estimated number subjects with monogenic PD worldwide currently represented in literature availability clinical data trial‐ready cohorts limited. Objective The objectives to (1) establish an international cohort affected unaffected individuals PD‐linked variants;...
Huntington's disease (HD) is a neurodegenerative caused by the expansion of CAG trinucleotide repeat in exon 1 huntingtin (HTT) gene. Here, we report that transcript peroxisome proliferator-activated receptor-γ (PPARγ), transcription factor critical for energy homeostasis, was markedly downregulated multiple tissues mouse model (R6/2) HD and lymphocytes patients. Therefore, downregulation PPARγ seems to be pathomechanism HD. Chronic treatment R6/2 mice with an agonist (thiazolidinedione,...
Amyloid β (Aβ) plays a major role in the neurodegeneration of Alzheimerâs disease (AD). The accumulation misfolded Aβ causes oxidative stress and inflammatory damage leading to apoptotic cell death. Traditional Chinese herbal medicine (CHM) has been widely used treating neurodegenerative diseases by reducing neuroinflammation. We examined neuroprotective effect formulated CHM Shaoyao Gancao Tang (SG-Tang, made Paeonia lactiflora Glycyrrhiza uralensis at 1:1 ratio) AD mouse models. In...
Huntington's disease (HD) is an autosomal dominant neurodegenerative caused by a CAG trinucleotide expansion in the Huntingtin (Htt) gene. Using two mouse models of HD, we demonstrate that urea cycle deficiency characterized hyperammonemia, high blood citrulline and suppression enzymes prominent feature HD. The resultant ammonia toxicity might exacerbate neurological deficits Suppression C/EBPα, crucial transcription factor for enzymes, appears to mediate We found presence mutant Htt, C/EBPα...
<b>Background:</b> Mutations in the glucocerebrosidase (<i>GBA</i>) gene have recently been identified as contributing to development of Parkinson disease (PD) Ashkenazi Jews. <b>Methods:</b> To investigate whether this finding can be confirmed a Taiwanese population, we conducted case control study cohort 518 PD patients and 339 controls for three common <i>GBA</i> mutations Taiwan, L444P, Rec<i>Nci</i>I R120W, using PCR restriction enzyme assay DNA sequencing. <b>Results:</b> Heterozygous...
Abstract The purpose of this study was to review the clinical manifestations 40 patients who fulfilled criteria for Hirayama disease (juvenile muscular atrophy distal upper extremities), identified in our neuromuscular clinic between February 1995 and December 2005. Of these patients, 87.5% were male. mean age at onset 16.8 years, which 4.5 years later than peak normal growth curve. Progressive muscle weakness wasting characteristic occurred predominantly part right limb. Neurogenic symptoms...
To study the clinical characteristics of hypokalemic thyrotoxic periodic paralysis (hoTPP) and identify predictors recurrent paralytic attacks before achieving euthyroid status.We retrospectively analyzed 45 hoTPP patients who were admitted during 7-year period.A tendency towards male predominance was observed among (91.1%, 41/45). The mean onset age 32.9 +/- 10.0 years (range: 16-54 years). No significant differences in between female patients. Precipitating factors included rest/sleep at...
Non-motor symptoms of Parkinson's disease (PD) have been receiving increasing attention. Approximately half patients with PD experience PD-related pain. We investigated the effect and mechanism acupuncture in who pain were divided into group control group. Nine completed treatment; seven received only an analgesic agent underwent resting-state functional magnetic resonance imaging (rs-fMRI) twice. fMRI was performed to evaluate connectivity brain regions. After treatment, a decrease total...