Bing-wen Soong

Bing-wen Soong
Taipei Medical University Shuang Ho Hospital

MD, Ph.D. FAAN, CPI

About

207
Publications
15,193
Reads
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Introduction
Bing-wen Soong currently works at the Department of Neurology, Taipei Medical University-Shuang Ho Hospital and National Yang Ming University/Taipei Veterans General Hospital. His current project is 'Molecular studies of Neurodegenerative disorders' and "clinical trials of neurological disorders.
Skills and Expertise
Additional affiliations
November 2013 - present
Taipei Veterans General Hospital
Position
  • Chair
September 2012 - present
National Yang Ming University
Position
  • Chair
September 2012 - present
National Yang Ming University
Position
  • Chair

Publications

Publications (207)
Article
Full-text available
In addition to cerebellar degeneration symptoms, patients with spinocerebellar ataxia type 3 (SCA3) exhibit extensive involvements with damage in the prefrontal cortex. A network model has been proposed for investigating the structural organization and functional mechanisms of clinical brain disorders. For neural degenerative diseases, a cortical f...
Article
Full-text available
Spinocerebellar ataxias 2 and 3 (SCA2 and SCA3) are dominantly inherited neurodegenerative diseases caused by expansion of polyglutamine-encoding CAG repeats in the affected genes. The etiology of these disorders is known to involve widespread loss of neuronal cells in the cerebellum, however, the mechanisms that contribute to cell death are still...
Article
Full-text available
Background: Recent studies have shown that the patients with spinocerebellar ataxia type 3 (SCA3) may not only have disease involvement in the cerebellum and brainstem but also in the cerebral regions. However, the relations between the widespread degenerated brain regions remains incompletely explored. Methods: In the present study, we investigate...
Article
Introduction: The aim of this study is to reappraise the progression of the five most common spinocerebellar ataxias (SCAs) in the Chinese population and to establish a much-needed critical comparison with that in other ethnic groups. There are very few longitudinal cohort studies of SCAs in Asian populations. An intriguing finding in an earlier s...
Article
Mutations in the annexin A11 gene (ANXA11) have been recently identified in British patients and Italian patients with amyotrophic lateral sclerosis (ALS), and their role in other ALS populations remains unclear. The aim of this study was to investigate the ANXA11 mutations in a Taiwanese ALS cohort. Mutational analysis of ANXA11 was performed in 2...
Article
Background and purpose: Homozygous and compound heterozygous mutations in the high temperature requirement serine peptidase A1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy. However, heterozygous HTRA1 mutations were recently identified to be associated with autosomal dominant cerebr...
Article
Full-text available
Exergames are interactive video games used for exercise and may have therapeutic value in people with degenerative ataxia. The purpose of this study was to investigate potential effects of exergaming training on cerebellar ataxia in people with spinocerebellar ataxia type 3 (SCA3). Nine individuals with SCA3 were recruited and randomized to either...
Article
Full-text available
[This corrects the article DOI: 10.1371/journal.pone.0187503.].
Chapter
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age...
Article
Full-text available
Background The inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias. The aim of this study was to investigate the role of ITPR1 mutations, including both large se...
Data
Probes used in qPCR for detecting copy number variation. (DOCX)
Data
Average estimated copy number detected by each probes used in the copy number analysis with qPCR technique. (TIFF)
Data
The crystallographic structure of IP3R1. (TIFF)
Data
SARA assessment of patient II-3. (MP4)
Data
Demographics of the study cohort. (DOCX)
Data
Flow chart outlining selection of the study cohort. (TIFF)
Data
SARA assessment of patient III-1. (MP4)
Article
Mutations in the cyclin F gene (CCNF) have been recently identified in a small number of patients with amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia, and their role in patients with ALS in Taiwan remains elusive. The aim of this study was to elucidate the frequency and spectrum of CCNF mutations in a Taiwanese ALS cohort of Han...
Article
Full-text available
Adrenoleukodystrophy (ALD) is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD (AVALD) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Muta...
Data
Primers used for sequencing ABCD1. (DOCX)
Data
Bioinformatics predictions of pathogenicity of the ABCD1 mutations identified in this study. (DOCX)
Article
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 distal hereditary motor neuropathy, the genetic causes remain elusive in many families. To identify an additional causal gene for distal hereditary motor n...
Article
Full-text available
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there isn’tany effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases. We hereby report the results of a phase I/IIa clinical study conducted in Taiwan to primarily evaluate...
Article
Background: Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb-girdle muscular dystrophy or distal-onset myopathy. Materials and methods: Exome sequencing was performed to investigate a Taiwanese family with a dominantly inherited distal-onset myopathy. Functional effects of the causal mutation were in...
Article
Full-text available
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a trinucleotide repeat (CAG) expansion in the coding region of ATXN3 gene resulting in production of ataxin-3 with an elongated polyglutamine tract. Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells...
Article
It has been assumed that cognitive disorder and visual-spatial disturbance in multiple system atrophy of the predominantly cerebellar type (MSA-C) are attributable to degradation of cerebellar function. The purpose of this study was to use diffusion tensor imaging (DTI) tractography to determine if patients with MSA-C characterized in part by visua...
Article
Full-text available
This cross-sectional study investigated the correlation between the CAG repeat length and the degeneration of cerebellum in spinocerebellar ataxia type 3 (SCA3) patients based on neuroimaging approaches. Forty SCA3 patients were recruited and classified into two subgroups according to their CAG repeat lengths (≥74 and <74). We measured each patient...
Article
Full-text available
We investigated a CAG trinucleotide repeat expansion in the ATXN2 gene in amyotrophic lateral sclerosis (ALS). Two new case-control studies, a British dataset of 1474 ALS cases and 567 controls and a Dutch dataset of 1328 ALS cases and 691 controls were analysed. In addition, to increase power we systematically searched PubMed for case-control stud...
Article
Full-text available
Objective Charcot–Marie–Tooth disease type X1 (CMTX1), which is caused by mutations in the gap junction (GJ) protein beta‐1 gene (GJB1), is the second most common form of Charcot–Marie–Tooth disease (CMT). GJB1 encodes the GJ beta‐1 protein (GJB1), which forms GJs within the myelin sheaths of peripheral nerves. The process by which GJB1 mutants cau...
Data
Video S1. Ca2+ signaling propagation of the wild‐type GJB1 gap junction channels. Before mechanical stimulation, most cells displayed relatively uniform resting intracellular Ca2+ concentrations ([Ca2+]i) (green). For cells expressing WT‐GJB1, mechanical stimulation of a single cell induced an increase in the [Ca2+]i at the point of contact, and a...
Data
Table S1. Antibodies used for analysis Table S2. In silico prediction of the functional effects of the five novel missense GJB1 mutations
Data
Video S2. Failure of Ca2+ signaling propagation in the C173Y mutant GJB1 gap junction channels. In contrast, for cells expressing the intracellularly trapped C173Y GJB1 mutant, mechanical stimulation of a single cell provoked a [Ca2+]i elevation in the stimulated cell, but the inward Ca2+ current did not propagate outward to neighboring cells
Article
Full-text available
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 in the Taiwanese population: P91QfsX, E199X, S202HfsX, R217PfsX, R217Ef...
Article
Full-text available
Objective: To ascertain the genetic and clinical characteristics of the GGCCTG hexanucleotide repeat expansion in the nucleolar protein 56 gene (NOP56) in patients with spinocerebellar ataxia (SCA), sporadic ataxia, or amyotrophic lateral sclerosis (ALS) in Taiwan. Methods: We conducted clinical and molecular genetic studies of 109 probands with...
Article
Full-text available
Background: A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. Methodology and principal findings: Utilizing targeted sequencing, 76 patients with molecularly unassigned...
Data
The list of the genes covered by the targeted sequencing panel in the study. (DOCX)
Data
The flow chart demonstrating how to select patients for BSCL2 analysis in the study. (DOCX)
Article
Mutations in the TBK1 gene were just recently identified to cause amyotrophic lateral sclerosis (ALS), and their role in ALS in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in TBK1 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of TBK1 were carried out by d...
Article
Full-text available
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in T...
Article
Full-text available
Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patient...
Article
Full-text available
Since its first availability in 2009, the next-generation sequencing (NGS) has been proved to be a powerful tool in identifying disease-associated variants in many neurological diseases, such as spinocerebellar ataxias, Charcot-Marie-Tooth disease, hereditary spastic paraplegia and amyotrophic lateral sclerosis. Whole exome sequencing and whole gen...
Article
Full-text available
Huntington's disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues. We previously reported that mutant Huntingtin (mHTT) exists in the liver and causes urea cycle deficiency. A low protein diet (17%) re...
Article
Full-text available
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset, dominantly inherited small-vessel disease of the brain caused by NOTCH3 mutations and characterized by recurrent subcortical infarctions, dementia, migraine with aura, and mood disturbance. We report a patient with unusual present...
Article
Full-text available
Patients with spinocerebellar ataxia type 3 (SCA3) have exhibited cerebral cortical involvement and various mental deficits in previous studies. Clinically, conventional measurements, such as the Mini-Mental State Examination (MMSE) and electroencephalography (EEG), are insensitive to cerebral cortical involvement and mental deficits associated wit...
Article
Full-text available
Spinocerebellar ataxia (SCA) and multiple system atrophy-cerebellar type (MSA-C) often present with similar clinical manifestations in the beginning. Magnetic resonance spectroscopy (MRS) has been proved to be a useful tool to help differentiate different types of SCA and MSA-C on cross-sectional studies. However, longitudinal changes of the MRS me...
Article
The GGGGCC hexanucleotide expansion in the C9ORF72 gene is the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in Caucasian populations. The phenotypic spectrum of C9ORF72 hexanucleotide repeat expansion mutation has been reported to include parkinsonian syndrome, Huntington's disease-like syndrom...
Article
Huntington’s disease (HD) is a neurodegenerative disorder accompanied by a degradation of dopaminergic receptors. It is evident that dopaminergic dysfunction leads to attention deterioration. However, little is known about the functional integrity of involuntary attention processing in patients with HD. The present study aimed to investigate whethe...
Article
Objective: To elucidate the clinical and cellular characteristics of spinocerebellar ataxia type 35 (SCA35), which is caused by mutations in the TGM6 gene encoding transglutaminase 6 (TG6), in a Taiwanese cohort. Methods: Mutations in TGM6 were ascertained in 109 unrelated probands of Chinese descent with molecularly unassigned SCA from 512 pedi...
Article
OBJECTIVE: To describe a novel mutation in TRK-fused gene (TFG) as a new cause of dominant axonal Charcot-Marie-Tooth disease (CMT) identified by exome sequencing and further characterized by in vitro functional studies. METHODS: Exome sequencing and linkage analysis were utilized to investigate a large Taiwanese family with a dominantly inherited...
Article
Full-text available
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most prevalent monogenic cerebral small vessel diseases caused by a mutation in the NOTCH3 gene. The clinical manifestations of CADASIL range from single or multiple lacunar infarcts, transient ischemic attacks, dementia, migraine with aura t...
Article
Spinocerebellar ataxia type 17 (SCA17) is caused by CAG repeat expansion in the TATA-box binding protein gene. Studies of several polyglutamine (polyQ) expansion diseases have suggested that the expanded polyQ proteins misfold and induce oxidative stress to contribute to cell death. Substantial deficits in peripheral tissues including lymphocytes h...