A5036076754- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- DNA Repair Mechanisms
- Transcranial Magnetic Stimulation Studies
- Advanced Neuroimaging Techniques and Applications
- Amyotrophic Lateral Sclerosis Research
- Vestibular and auditory disorders
- Endoplasmic Reticulum Stress and Disease
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Botulinum Toxin and Related Neurological Disorders
- Muscle Physiology and Disorders
- Metabolism and Genetic Disorders
- Cellular transport and secretion
- Nuclear Structure and Function
- Glycogen Storage Diseases and Myoclonus
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Glycosylation and Glycoproteins Research
- Autism Spectrum Disorder Research
First Affiliated Hospital of Fujian Medical University
2015-2025
Fujian Medical University
2015-2025
Fudan University Shanghai Cancer Center
2024
Binzhou Medical University
2024
Binzhou University
2024
Fujian University of Traditional Chinese Medicine
2018
Columbia University
2017
Zhejiang University
2015
Huashan Hospital
2010
Fudan University
2010
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as feature of the disease. Balance often manifests before onset obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity characterizing changes pre‐ataxic Objectives Our research aims to identify appropriate postural characteristics for tracking motor patients SCA3 over time. Methods The posturographic platform assessed 102 participants...
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a hereditary disease caused by abnormally expanded CAG repeats in the ATXN3 gene. The study aimed to identify potential biomarkers for assessing therapeutic efficacy investigating associations between repeat size, brain and spinal cord volume loss, motor functions patients with SCA3. Methods In this prospective, cross-observational study, we analyzed 3D T1-weighted MRIs from 92 SCA3 42 healthy controls using voxel-based morphometry...
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 symptoms of spinal cerebellar but mechanism unclear; in addition, whether any improvement related to metabolism has not yet been investigated. Therefore, purpose this study was investigate effects low-frequency rTMS on local patients with SCA3 and relationship between...
Abstract Background Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one most common spinocerebellar ataxia (SCA) world. The relative frequency MJD among SCA has previously been estimated at about 50% Chinese population and reported to be related large normal alleles some populations. Taq polymerase used for PCR nearly all studies previously. Methods Normal expanded were detected via using LA DNA (better GC-rich sequences)...
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 numbers, alleles can be divided into normal (ANs), intermediate (AIs) expanded (AEs). It was controversial whether frequency large (large ANs) related to prevalence SCA3 or not. And there were huge chaos comprehension specific numbers range repeats which fundamental for genetic analysis SCA3. To...
<strong>Background:</strong> Postural tremor can sometimes occur in spinocerebellar ataxias (SCAs). However, the prevalence and clinical characteristics of postural SCAs are poorly understood, whether SCA patients with have different ataxia progression is not known. <strong>Methods:</strong> We studied 315 SCA1, 2, 3, 6 recruited from Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA), which consists 12 participating centers United States, we evaluated these January 2010 to...
Intronic GAA repeat expansion ([GAA] ≥250) in FGF14 is associated with the late-onset neurodegenerative disorder, spinocerebellar ataxia 27B (SCA27B, GAA-FGF14 ataxia). We aim to determine prevalence of Chinese populations presenting cerebellar (LOCA) and evaluate characteristics tandem inheritance, radiological features sympathetic nerve involvement.
<b><i>Background:</i></b> Spinocerebellar ataxia type 3 (SCA3), which is the most common subtype of SCA worldwide, exhibits neuropsychological symptoms such as depression. However, contribution depression to severity SCA3 has not yet been thoroughly investigated. <b><i>Methods:</i></b> The present study investigated prevalence using Beck inventory in 104 molecularly confirmed patients from China. putative risk factors for and whether could...
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 considered to have a low prevalence. The goal this study was describe clinical characteristic and genetic profiles Chinese cohort. A total 322 individuals with expanded were consecutively recruited from neurologic clinics three medical centers Southeastern China between 2008 2018. Among them, 80 pre-symptomatic...
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 unrelated molecular‐confirmed were recruited between January 2006 December 2014. The screening was first performed in 173 subjects using SN aPshot ® Multiplex System. mitochondrial NADH dehydrogenase subunit 3 MT ‐ ND polymorphism 10398A>G (rs2853826)...
Abstract Objective Spinocerebellar ataxia type 3 (SCA3) is one of the most common hereditary neurodegenerative diseases, with balance instability as main symptom. Balance quantification crucial for evaluating efficacy therapeutic interventions. However, evaluation in SCA3 often subject to bias. Here, we aimed quantitatively evaluate postural and investigate relationship between clinical characteristics patients. Methods Sixty‐two patients 62 normal controls were recruited, their was measured...
The clinical overlap between Machado-Joseph disease (MJD) and autosomal dominant complicated hereditary spastic paraplegia (AD-HSP) is extensive the differentiation them can be difficult on ground. However, patients are seeking right diagnosis it important for neurologists to distinguish in early stage.In recent 10 years, we have recruited followed-up three families which were initially diagnosed as AD-HSP based criteria. Mutation analyses of SPG4, SPG3A ATXN3 performed index cases.No...
Machado-Joseph disease (MJD) is an inherited neurodegenerative caused by expanded CAG repeat in the ATXN3 gene. Although principal genetic determinant of age at onset (AAO) length repeat, additional contribution MJD toward AAO has mostly not yet been clarified. It was recently suggested two independent studies that apolipoprotein E (APOE) might be associated with variability patients. To identify potential modifier effect APOE polymorphisms on patients, 403 patients (confirmed molecular...
Background Spinocerebellar ataxia type 3 (SCA3) is an inherited form of that leads to progressive neurodegeneration. Fatigue a common non-motor symptom in SCA3 and other neurodegenerative diseases, such as Parkinson's disease (PD) amyotrophic lateral sclerosis (ALS). Although risk factors fatigue these diseases have been thoroughly studied, whether or not can affect clinical phenotypes has yet be investigated.91 molecularly confirmed patients 85 age sex-matched controls were recruited for...
Spinocerebellar ataxia type 3 (SCA3) is a hereditary that occurs worldwide. Clinical patterns were observed, including the one characterized by marked spastic paraplegia. This study investigated clinical features, disease progression, and multiparametric imaging aspects of patients with SCA3.
Background and purpose Huntington's disease ( HD ) is a dominantly inherited neurodegenerative disorder with varied prevalence in different populations, which may be associated specific haplotypes. This study aimed to explore the haplotypes encompassing HTT gene Chinese population. Methods A total of 406 individuals 59 normal relatives from 253 families were enrolled. 29 tag single nucleotide polymorphisms (t SNP s) selected genotyped for haplotype analysis. Results In stage one, we used 18...