A5110907233- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Glycogen Storage Diseases and Myoclonus
- Botulinum Toxin and Related Neurological Disorders
- Neurological and metabolic disorders
- Neurogenetic and Muscular Disorders Research
- Advanced Neuroimaging Techniques and Applications
- Muscle Physiology and Disorders
- Nuclear Receptors and Signaling
- Amyotrophic Lateral Sclerosis Research
- Lysosomal Storage Disorders Research
- Neuroscience and Neural Engineering
- Hereditary Neurological Disorders
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Radiopharmaceutical Chemistry and Applications
- RNA regulation and disease
- Facial Nerve Paralysis Treatment and Research
- Trigeminal Neuralgia and Treatments
- Medical Imaging Techniques and Applications
- Sleep and related disorders
- Spinal Dysraphism and Malformations
- Cerebrospinal fluid and hydrocephalus
Beijing Language and Culture University
2025
China Rehabilitation Research Center
2025
Minzu University of China
2025
Landseed Hospital
2025
Tongji Hospital
2025
Huazhong University of Science and Technology
2025
Children's Hospital of Fudan University
2024
Taipei Medical University
2024
Chang Gung Memorial Hospital
1997-2021
Linkou Chang Gung Memorial Hospital
2011-2021
We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with large proportion cases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).We screened 4448 patients diagnosed ALS (El Escorial criteria) 1425 FTD (Lund-Manchester from 17 regions worldwide for GGGGCC using repeat-primed PCR assay. assessed familial disease status on basis self-reported family history similar neurodegenerative diseases at time sample...
Carbamazepine, an anticonvulsant and a mood-stabilizing drug, is the main cause of Stevens-Johnson syndrome (SJS) its related disease, toxic epidermal necrolysis (TEN), in Southeast Asian countries. Carbamazepine-induced SJS-TEN strongly associated with HLA-B*1502 allele. We sought to prevent carbamazepine-induced by using screening prospectively identify subjects at genetic risk for condition.From 23 hospitals Taiwan, we recruited 4877 candidate who had not taken carbamazepine. genotyped...
Background: Lactobacillus plantarum PS128 (PS128) is a specific probiotic, known as psychobiotic, which has been demonstrated to alleviate motor deficits and inhibit neurodegenerative processes in Parkinson's disease (PD)-model mice. We hypothesize that it may also be beneficial patients with PD based on the possible mechanism via microbiome-gut-brain axis. Methods: This an open-label, single-arm, baseline-controlled trial. The eligible participants were scheduled take 60 billion...
Abstract Mutations of PLA2G6 gene have been lately proposed to be the causative for PARK14 in patients with autosomal recessive young‐onset parkinsonism (YOPD). The role mutations as a risk factor Parkinson's disease is not clear. To study PARK14‐linked and its association onset sporadic (sPD), sequencing dosage analyses were carried out 25 (onset age ≦30 years) then identified variants assessed 956 PD (sPD) 802 age‐matched healthy controls. Four genetic identified; one patient had...
Objective The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods consisted genome‐wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, protein expression studies in skin fibroblasts from patients. Results We identified heterozygous variant, c.388G>A, p.Gly130Arg, the eukaryotic translation initiation factor 2 alpha kinase ( EIF2AK2 ) gene, segregating with onset isolated...
We studied the inhibition of median H-reflexes by conditioning stimuli on radial nerve in 13 patients with writer's cramp, eight simple type and five dystonic type, 14 normal volunteers. The controls were right-handed, their right arms studied. Asymptomatic left also nine patients. In control group we identified three periods inhibition, maximum peaks at conditioning-test intervals 0 ms (41 +/- 17%), 20 (40 13%), 100 (36 20%). patient group, amplitudes these both significantly less than...
<i>Background:</i> The clinical presentations, MRI findings and outcomes for spinal cord infarction (SCI) are well documented in the West but scarce East. We investigated characteristics of SCI patients further analyzed etiologies prognostic factors Chinese subjects. <i>Methods:</i> reviewed all from March 1993 to 2007. Clinical symptoms, laboratory imaging as were retrospectively analyzed. <i>Results:</i> Twenty-two (12 female) identified; their mean age...
Abstract The neurotransmitter dopamine acts on the subventricular zone (SVZ) to regulate both prenatal and postnatal neurogenesis, in particular through D 3 receptor (D R) subtype. In this study, we explored cellular mechanism(s) underlying R‐mediated cell proliferation tested if systemic delivery of a R agonist would induce SVZ multipotent neural stem/precursor (NSC/NPC) vivo . We found that treatment with agonist, 7‐OH‐DPAT, enhances dose‐dependent manner cultured neurospheres from...
PET with <sup>18</sup>F-9-fluoropropyl-(+)-dihydrotetrabenzazine (<sup>18</sup>F-DTBZ), a novel radiotracer targeting vesicular monoamine transporter type 2 (VMAT2), has been proven as useful imaging marker to measure dopaminergic integrity. <b>Methods:</b> The aim of this study was evaluate the capability <sup>18</sup>F-DTBZ in detecting monoaminergic degeneration early Parkinson disease (PD) vivo. Seventeen age-matched healthy subjects and 30 PD patients at stage (duration ≤ 5 y) mild...
Abstract Patients with familial type 17 of Parkinson’s disease (PARK17) manifest autosomal dominant pattern and late-onset parkinsonian syndromes. Heterozygous (D620N) mutation vacuolar protein sorting 35 (VPS35) is genetic cause PARK17. We prepared heterozygous VPS35 D620N/+ knockin mouse, which an ideal animal model VPS35-induced Late-onset loss substantia nigra pars compacta (SNpc) dopaminergic (DAergic) neurons motor deficits were found in 16-month-old mice. Normal function...
This study examined blood oxygenation changes during a modified Stroop task with colored Chinese words using functional near‐infrared spectroscopy (fNIRS) in patients poststroke aphasia. The included three conditions: neutral, congruent, and incongruent. Participants consisted of 15 healthy adults Compared to adults, aphasic showed significantly longer reaction times reduced accuracy across all conditions, more pronounced interference effect the incongruent condition. fNIRS analysis revealed...
Introduction Autism Spectrum Disorder (ASD) is associated with atypical neural dynamics, affecting spatial navigation and information integration. EEG microstates functional connectivity (FC) are useful tools for investigating these differences. This study examines alterations in theta-band FC during map-reading tasks children ASD (n = 12) compared to typically developing (TD) peers 12), aiming uncover mechanisms underlying processing deficits ASD. Methods data were collected from TD...
Abstract We report on 2 brothers, Patients 1 and 2, who presented with a similar clinical syndrome consisting of resting tumor, bradykinesia, rigidity, dysarthria at the ages 40 43 years, respectively. An excellent response to levodopa therapy was observed throughout disease course. No gait or limb ataxia, slow saccades, decreased tendon reflexes were detected, but unsteadiness propulsion developed recently in Patient approximately 25 years after onset. Magnetic resonance imaging...
Background and purpose: Sialidosis type 1 (ST‐1) is a neurodegenerative disorder with limited long‐term follow‐up report. This study to document the chronological profile of ST‐1. Methods: We perform serial analysis 17 Taiwanese patients ST‐1 focusing on evolution clinical features, electrophysiological findings, genetic studies, neuroimage examinations. Results: All had mutation at 554A→G in exon 3 NEU1 gene causing Ser182Gly substitution. Fifteen were homozygous. Two heterozygous novel...
The association between glucocerebrosidase (GBA) mutations and Parkinson's disease (PD) is attracting increased attention worldwide. In patients of Chinese ethnicity, other than the common L444P mutation, a few have been reported. However, contribution GBA to PD can be answered only by thorough investigation its in unique large population.We enrolled 1747 participants: 967 780 healthy individuals. We screened entire coding regions exon-intron boundaries 30 randomly chosen patients, followed...
Background The therapeutic effect of deep brain stimulation (DBS) the subthalamic nucleus (STN) for Parkinson's disease (PD) is related to modulation pathological neural activities, particularly synchronization in β band (13–35 Hz). However, whether local activity STN region can directly predict outcome remains unclear. Objective We tested hypothesis that low- (13–20 Hz) and/or high- (20–35 activities recorded from DBS efficacy. Methods Local field potentials (LFPs) were 26 patients...
Abstract The occurrence of persistent hemiballism after subthalamotomy for Parkinson's disease (PD) has not been described as frequently mild or transient dyskinesia. We report on 2 patients with advanced PD who developed and/or dyskinesia subthalamotomy. One patient a small lesion confined to the subthalamic nucleus (STN) hemiballism; other larger involving STN and also zona incerta presented in single limb. conclude that precise might bear potential risk hemiballism. © 2002 Movement...
To safely walk in a community environment requires dual cognitive-walking ambulation ability for people with Parkinson's disease (PD). A past study showed inconsistent results on performance PD patients, possibly due to the various cognitive tasks used and task priority assignment. This designed tests that executive-related evaluate patients early-stage who did not have obvious deficits. The effect of assigning prioritization was also evaluated. Sixteen individuals (PD group) 16 without...
There are very few conditions that present with dopa-responsive juvenile parkinsonism. We two such children neuronal intranuclear inclusion disease (NIID) who had an initial good levodopa response was soon complicated by disabling dopa-induced dyskinesia. One child diagnosed rectal biopsy in life, and the other diagnosis confirmed at postmortem. In this patient, dopamine transporter imaging showed severely decreased binding of radiotracer striatum on both sides. Bilateral subthalamic deep...
Abstract Introduction Sleep disturbance is a common nonmotor symptom of Parkinson's disease ( PD ) and strongly affects patients’ quality life. The relationship between excessive daytime sleepiness EDS nighttime problems remains uncertain. Arguments persist regarding the risk factors for sleep among patients with . Furthermore, prevalence appears to be lower in Asian countries. Herein, we conducted study describe characteristics sample Taiwanese delineate difference reported disturbances...
There are conflicting reports concerning the variation in duration of symptoms relief for patients with hemifacial spasm who have undergone several injections botulinum A toxin (BOTX-A). We present our experience BOTX-A Taiwanese to analyze this issues, and inspect whether efficacy treatment depends on pre-injection severity.From July 1992 December 1994, 137 received BOTX-A. used objective subjective score system evaluate side effects injection.The overall successful rate substantial was...
<i>Objective:</i> To ascertain the characteristics of patients with sporadic Creutzfeldt-Jakob disease (CJD) and to determine findings electroencephalography (EEG) brain magnetic resonance imaging (MRI). <i>Methods:</i> We pooled at a hospital from 2000 2008, classified them according WHO diagnostic criteria as having probable or possible CJD. retrospectively analyzed their clinical manifestations, MRI, EEG evaluate correlations among them. <i>Results:</i>...
Background and purpose Spastic paraplegia type 5 ( SPG 5) is an autosomal recessive AR ) hereditary spastic HSP associated with pure or complicated phenotypes. This study aimed to screen in Taiwanese patients. Methods Sequencing of the gene, CYP 7B1 , was performed a cohort 25 ethnic Han patients sporadic . Clinical information magnetic resonance imaging MRI were analyzed confirmed Results One (33%) kindred four (18%) cases had mutations. All carried mutation c.334 C>T (R112X). Haplotype...