A5072103383- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Cerebrovascular and genetic disorders
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- Moyamoya disease diagnosis and treatment
- Parkinson's Disease Mechanisms and Treatments
- Metalloenzymes and iron-sulfur proteins
- Cellular transport and secretion
- Botulinum Toxin and Related Neurological Disorders
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Peripheral Neuropathies and Disorders
- Neurological disorders and treatments
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genomics and Rare Diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- Cerebrovascular and Carotid Artery Diseases
- Neurological and metabolic disorders
- Alzheimer's disease research and treatments
- Peripheral Nerve Disorders
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
Taipei Veterans General Hospital
2016-2025
National Yang Ming Chiao Tung University
2016-2025
Seoul National University Hospital
2024
Kyoto Prefectural University of Medicine
2024
National Cerebral and Cardiovascular Center
2024
Taipei Medical University Hospital
2024
Mackay Junior College of Medicine, Nursing and Management
2024
Yokohama City University
2021-2022
Taichung Veterans General Hospital
2005-2021
Zero to Three
2021
Abstract Objective: To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar mapped to chromosome 1p21‐q23. Methods: We previously characterized a large Chinese family with progressive designated SCA22, which overlaps locus of SCA19. The disease French and Ashkenazi Jewish American was also this region. Members from all 3 families were enrolled. Whole exome sequencing performed candidate mutations, narrowed by linkage analysis confirmed Sanger...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured a strong clustering of mutations in NOTCH3 exons 3–6 frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic phenotypic profiles CADASIL Taiwan. One hundred twelve patients from 95 families Chinese descents Taiwan were identified by Sanger sequencing 2 to 24 NOTCH3. Twenty different uncovered, including 3 novel ones, R544C...
Distal hereditary motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb muscle weakness and atrophy. Although at least 15 genes have been implicated in neuropathy, the genetic causes remain elusive many families. To identify an additional causal gene for we performed exome sequencing two affected individuals unaffected members Taiwanese family with autosomal dominant which mutations common neuropathy-implicated had excluded. The revealed...
Abstract Neuronal intranuclear inclusion disease (NIID), caused by an expansion of GGC repeats in the 5′-untranslated region NOTCH2NLC, is important but underdiagnosed cause adult-onset leukoencephalopathies. The present study aimed to investigate prevalence, clinical spectrum and brain MRI characteristics NIID nonvascular leukoencephalopathies assess diagnostic performance neuroimaging features. One hundred sixty-one unrelated Taiwanese patients with genetically undetermined were screened...
The purpose of this study dementia screening was to obtain different cutoff scores the Cognitive Abilities Screening Instrument, Chinese versions (CASI C-2.0) for subjects with educational backgrounds. diagnosis based on Diagnostic and Statistical Manual Mental Disorders, ed 3 revised or 4 criteria. To diagnose Alzheimer’s disease, guidelines National Institute Neurological Communicative Disorders Stroke Disease Related Association followed. severity determined Clinical Dementia Rating...
Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of peripheral neuropathies characterized by muscle weakness and wasting, impaired sensation in the extremities. Four genes encoding an aminoacyl-tRNA synthetase (ARS) have been implicated CMT disease. ARSs are ubiquitously expressed, essential enzymes that ligate amino acids to cognate tRNA molecules. Recently, p.Arg329His variant alanyl-tRNA (AARS) gene was found segregate with dominant axonal type 2N (CMT2N) two French...
The 'hot cross bun' sign (HCBS), typically seen in the patients with multiple system atrophy, refers to a cruciform hyperintensity pons on T2-weighted MRI. Little is known about its pathological basis and prevalence other degenerative cerebellar diseases healthy population. We investigate frequency of HCBS spinocerebellar ataxia (SCA) controls.The presence axial MRIs from 138 SCA (three SCA1, 35 SCA2, 76 SCA3, 18 SCA6, one SCA7, three SCA8, two SCA17) 102 controls was evaluated...
Background Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous group of inherited axonal neuropathies. The aim this study was to extensively investigate the mutational spectrum CMT2 in cohort patients Han Chinese. Methodology Principal Findings Genomic DNA from 36 unrelated Taiwanese Chinese descent screened for mutations coding regions MFN2, RAB7, TRPV4, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, DNM2, AARS YARS genes. Ten disparate were identified 14 (38.9%...
Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene cause a wide spectrum of neurological diseases, ranging from paroxysmal kinesigenic dyskinesia (PKD) to mental retardation and epilepsy. Previously, seven PKD-related PRRT2 heterozygous mutations were identified Taiwanese population: P91QfsX, E199X, S202HfsX, R217PfsX, R217EfsX, R240X R308C. This study aimed investigate disease-causing mechanisms these mutations. We first documented that Prrt2 was localized at pre-...
Background and Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts leukoencephalopathy (CADASIL) is a monogenic cerebral small vessel disease. The role of intracerebral hemorrhage (ICH) in CADASIL remains elusive. present study aims to investigate the prevalence, characteristics, risk factors for ICH CADASIL. Methods: This retrospective cross-sectional investigated microbleeds (CMBs) brain susceptibility-weighted imaging or T2*-weighted gradient-recalled echo images...
The anti-inflammatory effects of salmeterol/fluticasone (SFP), tiotropium/fluticasone (Tio+FP) and tiotropium (Tio) alone were investigated on the inflammatory cells mediators in sputum induced from chronic obstructive pulmonary disease patients. Subjects either newly diagnosed or had not taken any medication for 3 months prior to study. (n = 99) randomised (not double blinded) received SFP (100/1,000 μg daily), Tio+FP (18/1,000 daily) Tio (18 12 weeks. Induced serum C-reactive protein (CRP)...
Abstract We quantitatively investigated the clinical severity and progression of diseases with ataxia, as measured Scale for Assessment Rating Ataxia, examined potential application Ataxia future therapeutic trials. Severity ataxia was assessed in 238 patients spinocerebellar type 2, 3, 6, 17, multiple system atrophy‐cerebellar variant, or Gerstman‐Sträussler‐Scheinker disease. Among them, 119 (50%) were longitudinally three to seven times, a period 8 38 months, resulting total set 535...
Background Mutations in the PRRT2 gene have recently been identified patients with familial paroxysmal kinesigenic dyskinesia infantile convulsions (PKD/IC) and sporadic PKD/IC from several ethnic groups. To extend these recent genetic reports, we investigated frequency identities of mutations a cohort Taiwanese PKD/IC. Methodology Principal Findings We screened all 3 coding exons for 28 Among them, 13 had 15 were apparently cases. In total, 7 disparate patients, including 8 cases 5 The not...