Publications by authors named "Hui-Fang Shang"

Article Synopsis
  • The study investigates how peripheral inflammation affects Huntington's disease (HD) by comparing inflammatory markers in HD patients and healthy controls.
  • Key findings include lower lymphocyte counts and higher neutrophil-to-lymphocyte ratios in HD patients, indicating a distinct inflammatory profile associated with the disease.
  • Elevated inflammatory markers are linked to faster disease progression and higher risks of disability and mortality in individuals with HD.
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Tardive dyskinesia (TD) is a movement disorder that can arise as a side effect of treatment with dopamine receptor-blocking agents (DRBAs), including antipsychotic drugs (APDs) used to manage psychotic illnesses. Second-generation APDs (SGAs) are often preferred to first-generation drugs due to their lower propensity to cause TD, however many SGAs-treated patients still develop the condition. Although TD is a global health concern, evidence regarding the occurrence of TD and how it is managed in Asian countries is currently limited.

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Background: Little is known about the impact of the COVID-19 pandemic on patients with Parkinson's disease (PD) at different stages of the pandemic. This study aims to assess the lives and disease status of PD patients during the zero-COVID policy period and after ending the zero-COVID policy.

Methods: This multicenter cross-sectional study included two online surveys among PD patients in China, from May 30 to June 30 in 2022 and from January 1 to February 28 in 2023, respectively.

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Background And Aim: Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD. We aimed to examine the cognition status in a Chinese HD cohort and explore factors influencing the diverse cognitive domains.

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The deficit of fragile X messenger ribonucleoprotein (FMRP) leads to intellectual disability in human and animal models, which also leads to desensitization of pain after nerve injury. Recently, it was shown that the protein arginine methyltransferases 1 (PRMT1) regulates the phase separation of FMRP. However, the role of PRMT1 in pain regulation has been less investigated.

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Background: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disorder (NDS) with unclear pathophysiology and few therapeutic options. Mutations in and are the most common in Asian and Caucasian patients with ALS, respectively. Aberrant (microRNAs) miRNAs found in patients with gene-mutated ALS may be involved in the pathogenesis of gene-specific ALS and sporadic ALS (SALS).

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CHCHD2 mutations have been reported to cause Parkinson's disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutation, CHCHD2 p.

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Background And Purpose: Recent genetic progress has shown many causative/risk genes linked to Parkinson's disease (PD), mainly in patients of European ancestry. The study aimed to investigate the PD-related genes and determine the mutational spectrum of early-onset PD in ethnic Chinese.

Methods: In this study, whole-exome sequencing and/or gene dosage analysis were performed in 704 early-onset PD (EOPD) patients (onset age ≤45 years) and 1866 controls.

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Article Synopsis
  • The study aims to investigate how genetic factors influence survival rates in patients with amyotrophic lateral sclerosis (ALS), an area that hasn't been thoroughly researched.
  • A systematic review and meta-analysis of 71 eligible studies were conducted, focusing on both causative genes and genetic modifiers related to ALS survival.
  • Results indicated that variants in genes like ATXN2, C9orf72, and FUS were linked to shorter survival, while other genes did not show a significant impact, providing insights that could help guide future ALS research and treatment strategies.
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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by selective loss of motor neurons in the brain and spinal cord. Recent studies have shown that mutations in SQSTM1 are linked to ALS. It has also been demonstrated that a systemic loss of SQSTM1 exacerbates disease phenotypes in an ALS mouse model.

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Article Synopsis
  • Biomarkers are essential in diagnosing Alzheimer’s disease (AD) and provide insights into neurodegenerative processes.
  • A study utilizing single-cell RNA sequencing found a significant decrease in B cells in the blood of AD patients, which correlated with their Clinical Dementia Rating (CDR) scores.
  • Further experiments in early-stage AD mice showed that depleting B cells worsened cognitive dysfunction and increased amyloid-beta plaques, leading to the identification of specific gene changes in B cells linked to AD progression.
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The association between inflammation and neurodegeneration has long been observed in parkinson's disease (PD) and multiple system atrophy (MSA). Previous genome-wide association studies (GWAS) and meta-analyses have identified several risk loci in inflammation-associated genes associated with PD. To investigate whether polymorphisms in some inflammation-associated genes could modulate the risk of developing PD and MSA in a Southwest Chinese population.

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Background: The survival time of amyotrophic lateral sclerosis (ALS) is greatly variable and protective or risk effects of the potential survival predictors are controversial. Thus, we aim to undertake a comprehensive meta-analysis of studies investigating non-genetic prognostic and survival factors in patients with ALS.

Methods: A search of relevant literature from PubMed, Embase, Cochrane library and other citations from 1 January 1966 to 1 December 020 was conducted.

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Vascular risk factors have been reported to be associated with cognitive impairment (CI) in the general population, but their role on CI in multiple system atrophy (MSA) is unclear. This study aimed to explore the relationship between vascular risk factors and CI in patients with MSA. The clinical data and vascular risk factors were collected.

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Article Synopsis
  • * The research identified 155 patients with rare pathogenic variants linked to ALS, with specific genes showing a higher mutation frequency and certain variants associated with increased disease risk and poor prognosis.
  • * Findings indicate that understanding ALS genetics in diverse populations, like those in China, can inform genetic testing strategies and enhance the evaluation of disease outcomes.
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The neutrophil-to-lymphocyte ratio (NLR) is considered a robust prognostic biomarker for predicting patient survival outcomes in many diseases. However, it remains unclear whether it can be used as a biomarker for amyotrophic lateral sclerosis (ALS). To correlate NLR with disease progression and survival in sporadic ALS, 1030 patients with ALS between January 2012 and December 2018 were included in this study.

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Article Synopsis
  • The study investigates the connection between TRIM family proteins and Parkinson's disease, particularly focusing on early-onset cases in a Chinese cohort.
  • Researchers identified 123 rare genetic variants across multiple TRIM proteins, linking some variants to an increased risk of Parkinson's disease.
  • The findings highlight TRIM24 as a potential risk gene, enhancing the understanding of genetic factors in early-onset Parkinson's disease and expanding the spectrum of known mutations.
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Background: Genetic studies have indicated that variants in several lysosomal genes are risk factors for idiopathic Parkinson's disease (PD). However, the role of lysosomal genes in PD in Asian populations is largely unknown.

Objective: This study aimed to analyze rare variants in lysosomal related genes in Chinese population with early-onset and familial PD.

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Background: Camptocormia is common in patients with multiple system atrophy (MSA). The current study was aimed at assessing the frequency of camptocormia and its related factors in MSA patients with different disease durations. Also, the impact of camptocormia on disability was evaluated.

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The solute carrier (SLC) transporters have been suggested to play important roles in neurodegenerative disorders. Recently, seven SLC transporters were identified to be associated with Parkinson's disease (PD) by genome-wide association studies. However, few replications were conducted, and whether rare variants in these genes were associated with PD was not explored yet.

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Article Synopsis
  • Researchers explored the connection between Zinc finger (ZNF) proteins and Parkinson's disease (PD), focusing on a large cohort of Chinese patients with early-onset PD.
  • They identified rare genetic variants linked to PD in specific ZNF genes, particularly ZNF746 and ZNF219, with some variants showing significant associations to the disease.
  • This study enhances the understanding of the genetic relationship between ZNF proteins and PD, suggesting that ZNF746 may play a crucial role in early-onset forms of the disease.
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