Explanipedia

Distribution of perivascular spaces distribution and relate to the clinical features of SCA3 Open

Xinyuan Chen, Yan-Hua Lian, Weijun Lin, Xiao‐Yue Xia, Lin Zhang , et al. · 2025

Background Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative condition. Prior research has established perivascular spaces (PVS) expansion has been implicated in the pathogenesis and prognosis of various neurodegenerative di…

Transcranial alternating current stimulation for treating spinocerebellar ataxia type 3: A randomized controlled trial Open

Xinyuan Chen, Xia Liu, Wei Lin, Lin Zhang, Xiaoping Cheng , et al. · 2025

There are no specific treatments for spinocerebellar ataxia type 3 (SCA3), a neurodegenerative disease causing cerebellar dysfunction. Transcranial alternating current stimulation (tACS) can improve cerebellar motor functions, and it has b…

Feasibility of repetitive transcranial magnetic stimulation on non-motor symptoms of spinocerebellar ataxia type 3: a secondary analysis of a randomized clinical trial Open

Hua Wu, Hao‐Ling Xu, Xia‐Hua Liu, Arif Sikandar, Wei Lin , et al. · 2025

Introduction Spinocerebellar ataxia type 3 (SCA3) poses challenges for patients due to motor dysfunctions and non-motor symptoms (NMS), such as sleep disorders, cognitive deficits, and mood disturbances. These issues significantly impact t…

Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study Open

Zhixian Ye, Xuan-Yu Chen, Meng-Cheng Li, Xinyuan Chen, Yusen Qiu , et al. · 2025

Digital Balance Biomarkers and Interpretable Evaluation of Disease Severity in Spinocerebellar Ataxia Type 3 Open

Yue Zhang, Yuanyuan Xiao, Kai-Liang Luo, Wei Lin, Wanli Zhang , et al. · 2025

Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3 Open

Xuan-Yu Chen, Kunxin Lin, Zhixian Ye, Liangliang Qiu, Yusen Qiu , et al. · 2024

Background The regulatory role of the apolipoprotein E ( APOE ) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 allele on cognitive an…

Assessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3 Open

Xia‐Hua Liu, Wei Lin, Hao‐Ling Xu, Mao‐Lin Cui, Zhuo-Ying Huang , et al. · 2024

Background Peripheral neuropathy (PN) identified as a significant contributor to disability in SCA3 patients. Objectives This study seeks to assess the utility of current perception threshold (CPT) measurements in evaluating PN in individu…

Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study Open

Zhixian Ye, Xuan-Yu Chen, Meng-Cheng Li, Xinyuan Chen, Yusen Qiu , et al. · 2024

Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary polyglutamine disease, caused by abnormally expanded cytosine–adenine–guanine (CAG) repeats in ATXN3 gene. It is classically characterized by cerebellar and spinal cord atrop…

Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia Open

Ze-Hong Zheng, Chun‐Yan Cao, Cheng Bi, Ru‐Ying Yuan, Yi‐Heng Zeng , et al. · 2024

Disease Progression and Multiparametric Imaging Characteristics of Spinocerebellar Ataxia Type 3 With Spastic Paraplegia Open

Zhixian Ye, Hao‐Ling Xu, Naping Chen, Xinyuan Chen, Mengcheng Li , et al. · 2024

SCA3-SP differs from SCA3-NSP in clinical features, multiparametric brain imaging findings, and longitudinal follow-up progression.

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China Open

Yikun Chen, Yan Shi, Yuan Gao, Yan Hu, Linying Zhou , et al. · 2023

Effects of cerebellar transcranial alternating current stimulation in cerebellar ataxia: study protocol for a randomised controlled trial Open

Xia Liu, Wei Lin, Lin Zhang, Wanli Zhang, Xiaoping Cheng , et al. · 2023

Background Cerebellar ataxia (CA) is a movement disorder that can affect balance and gait, limb movement, oculomotor control, and cognition. Multiple system atrophy-cerebellar type (MSA-C) and spinocerebellar ataxia type 3 (SCA3) are the m…

Altered brain white matter structural motor network in spinocerebellar ataxia type 3 Open

Xinyuan Chen, Ziqiang Huang, Wei Lin, Mengcheng Li, Zhixian Ye , et al. · 2022

Objectives Spinocerebellar ataxia type 3 is a disorder within the brain network. However, the relationship between the brain network and disease severity is still unclear. This study aims to investigate changes in the white matter (WM) str…

Short-term efficacy of repetitive transcranial magnetic stimulation in SCA3: A prospective, randomized, double-blind, sham-controlled study Open

Arif Sikandar, Xia‐Hua Liu, Hao‐Ling Xu, Ying Li, Yun-Qing Lin , et al. · 2022

Effects of Repetitive Transcranial Magnetic Stimulation on Cerebellar Metabolism in Patients With Spinocerebellar Ataxia Type 3 Open

Xinyuan Chen, Yan-Hua Lian, Xia‐Hua Liu, Arif Sikandar, Meng-Cheng Li , et al. · 2022

Background Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant hereditary ataxia, and, thus far, effective treatment remains low. Repetitive transcranial magnetic stimulation (rTMS) can improve the symptoms of spinal…

Impaired Lower Limb Proprioception in Spinocerebellar Ataxia Type 3 and Its Affected Factors Open

Xia‐Hua Liu, Zhiyong Wang, Ying Li, Hao‐Ling Xu, Arif Sikandar , et al. · 2022

Background Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases. Postural control dysfunction is the main symptom of SCA3, and the proprioceptive system is a critical sensory component of pos…

An observational study of balance and proprioception function in patients with spinocerebellar ataxias type 3 Open

Xia‐Hua Liu, Ying Li, Hao‐Ling Xu, Arif Sikandar, Weihong Lin , et al. · 2020

BackgroundPostural instability is one of the most disabling features of spinocerebellar ataxias type 3 (SCA3) and often leads to falls that reduce mobility and functional capacity. This study aimed to quantitatively analyse static and dyna…

Correction to: Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation Open

Chih-Chun Lin, Shi‐Rui Gan, Deepak Gupta, Armin Alaedini, Peter H. Green , et al. · 2020

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients Open

Xia‐Hua Liu, Ying Li, Hao‐Ling Xu, Arif Sikandar, Weihong Lin , et al. · 2020

Objective Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases, with balance instability as main symptom. Balance quantification is crucial for evaluating the efficacy of therapeutic interven…

Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients Open

Jin‐Shan Yang, Hao‐Ling Xu, Pingping Chen, Arif Sikandar, Meizhen Qian , et al. · 2020

Background: Spinocerebellar ataxia type 3 (SCA3) is an inherited form of ataxia that leads to progressive neurodegeneration. Fatigue is a common non-motor symptom in SCA3 and other neurodegenerative diseases, such as Parkinson's dis…

Correlation Between CCG Polymorphisms and CAG Repeats During Germline Transmission in Chinese Patients with Huntington’s Disease Open

Hong-Rong Cheng, Xiaoyan Li, YU Hui-li, Miao Xu, Yanbin Zhang , et al. · 2020

The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3 Open

Hao‐Ling Xu, Qiu‐Ni Su, Xianjin Shang, Arif Sikandar, Min‐Ting Lin , et al. · 2019

Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited form of ataxia that leads to progressive neurodegeneration. The initial symptoms could affect clinical phenotypes in neurodegenerative diseases, such as Parkinson's disea…

Clinical and Genetic Profiles in Chinese Patients with Huntington’s Disease: A Ten-year Multicenter Study in China Open

Honglei Li, Xiaoyan Li, Yi Dong, Yanbin Zhang, Hong-Rong Cheng , et al. · 2018

Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG triplet repeats expansion in exon 1 of the Huntingtin gene (HTT). In China, HD is considered to have a low prevalence. The goal of…

Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation Open

Chih-Chun Lin, Shi‐Rui Gan, Deepak Gupta, Armin Alaedini, Peter H. Green , et al. · 2018

Supplementary Material for: Bidirectional Connections between Depression and Ataxia Severity in Spinocerebellar Ataxia Type 3 Patients Open

Minghe Lin, Jang Sik Yang, Pingping Chen, Meizhen Qian, Hong Lin , et al. · 2018

Background: Spinocerebellar ataxia type 3 (SCA3), which is the most common subtype of SCA worldwide, exhibits common neuropsychological symptoms such as depression. However, the contribution of depression to the severity of S…

<i>C9orf72</i> repeat expansions as genetic modifiers for depression in spinocerebellar ataxias Open

Karla P. Figueroa, Shi‐Rui Gan, Susan Perlman, George Wilmot, Christopher M. Gómez , et al. · 2017

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias Open

Shi‐Rui Gan, Jie Wang, Karla P. Figueroa, Stefan M. Pulst, Darya Tomishon , et al. · 2017

Background: Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural tremor in SCAs are poorly understood, and whether SCA patients with postural tremor have di…

Mitochondrial <span>NADH</span> Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado–Joseph disease Patients Open

Sheng Chen, Shi‐Rui Gan, Pingping Cai, Ni Wang, Qi Zhou , et al. · 2015

Summary Aims To investigate the potential effect of six previously reported candidate single nucleotide polymorphisms on age at onset ( AAO ) among Chinese patients with Machado–Joseph disease ( MJD ). Methods Three hundred and twenty‐four…

Population Genetics and New Insight into Range of CAG Repeats of Spinocerebellar Ataxia Type 3 in the Han Chinese Population Open

Shi‐Rui Gan, Ni Wang, Yi Dong, Ning Wang, Zhi‐Ying Wu · 2015

Spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph disease (MJD), is one of the most common SCAs worldwide and caused by a CAG repeat expansion located in ATXN3 gene. Based on the CAG repeat numbers, alleles of ATXN3 can be d…

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