The association between plasma GPNMB and Parkinson's disease and multiple system atrophy.

Aims: Parkinson's disease (PD), as the second most common neurodegenerative disorder, often presents diagnostic challenges in differentiation from other forms of Parkinsonism. Recent studies have reported an association between plasma glycoprotein nonmetastatic melanoma protein B (pGPNMB) and PD.

Methods: A retrospective study was conducted, comprising 401 PD patients, 111 multiple system atrophy (MSA) patients, 13 progressive supranuclear palsy (PSP) patients and 461 healthy controls from the Chinese Han population, with an assessment of pGPNMB levels.

A systematic analysis of genotype-phenotype associations with PLA2G6.

Background: PLA2G6-associated neurodegeneration (PLAN) can be categorized into infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (aNAD), neurodegeneration with brain iron accumulation (NBIA), and early-onset parkinsonism (EOP).

Objectives: To determine the genotype-phenotype association in PLAN.

Methods: "PLA2G6" or "PARK14" or "phospholipase A2 group VI" or "iPLA2β" were searched across MEDLINE from June 23, 1997, to March 1, 2023.

Associations between variants in levodopa metabolic pathway genes and levodopa-induced dyskinesia in Parkinson's disease.

Introduction: Levodopa-induced dyskinesia (LID) is a common motor complication in Parkinson's disease (PD). Several genes in the levodopa metabolic pathway, such as COMT, DRDx and MAO-B, were reported associated with LID. However, there has been no systematic analyses between common variants in levodopa metabolic pathway genes and LID in a large sample of the Chinese population.

Maillard reaction between oligopeptides and reducing sugar at body temperature: The putative anti-glycation agents.

Type 2 Diabetes mellitus (T2DM) is one of the most common chronic multifactorial diseases, which is associated with the increased concentration of glucose in the blood. Therefore, the utilization of blood lowering agents is clearly a promising approach which can lead to a suppression of the evaluated blood glucose, and thus curing T2DM and other complication. In this study, we evaluated the glucose lowering effect of a varieties of amino acids (alanine and histidine), dipeptides (carnosine and α-alanine-L-histidine), and tripeptide (glutathione) by reacting with glucose, fructose, and sucrose under 37°C and pH 7.

Quantitative Transcranial Sonography Evaluation of Substantia Nigra Hyperechogenicity Is Useful for Predicting Levodopa-Induced Dyskinesia in Parkinson Disease.

Levodopa-induced dyskinesia (LID) is a common motor complication in Parkinson disease (PD). Abnormal substantia nigra hyperechogenicity (SN+), detected by transcranial sonography (TCS), plays an important role in the differential diagnosis of PD. The purpose of this study was to investigate the predictive performance of quantitative SN+ evaluations for LID.

The Natural History of Spinocerebellar Ataxia Type 3 in Mainland China: A 2-Year Cohort Study.

Objective: The natural history of spinocerebellar ataxia type 3 (SCA3) has been reported in several populations and shows heterogeneity in progression rate and affecting factors. However, it remains unexplored in the population of Mainland China. This study aimed to identify the disease progression rate and its potential affecting factors in patients with SCA3 in Mainland China.

Cognitive Performance is Associated with Altered Cerebral Hemodynamics Assessed by Transcranial Ultrasound in Parkinson's Disease.

Purpose: Cognitive impairment (CI) is a common but debilitating non-motor symptom in Parkinson's disease (PD). Although cerebrovascular functions are related to cognitive performance in healthy individuals, such a relation in PD remains elusive. This study aims to assess the association between cerebrovascular function and cognitive performance in PD individuals.

Age is an important independent modifier of SCA3 phenotype severity.

Objective: This study aimed to investigate factors modulating spinocerebellar ataxia type 3 (SCA3) phenotype severity besides the expanded CAG repeats (ExpCAG) of ATXN3.

Methods: Data regarding CAG trinucleotide repeats, age at onset (AO), duration, age, sex, transmitting parent, and scale scores of SCA3 patients were collected. Multiple linear regression analysis was performed to identify influential independent variables.

Prediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning.

Background: In polyglutamine (polyQ) disease, the investigation of the prediction of a patient's age at onset (AAO) facilitates the development of disease-modifying intervention and underpins the delay of disease onset and progression. Few polyQ disease studies have evaluated AAO predicted by machine-learning algorithms and linear regression methods.

Objective: The objective of this study was to develop a machine-learning model for AAO prediction in the largest spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) population from mainland China.

Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3.

Objective: To investigate serum neurofilament light protein (sNfL) levels in patients with spinocerebellar ataxia type 3 (SCA3) and to determine whether they are associated with disease severity.

Methods: This cross-sectional study enrolled 185 healthy controls and 235 mutation carriers (17 asymptomatic stage, 20 preclinical stage, and 198 ataxic stage). We measured sNfL levels with the single molecule array (Simoa) platform.

Corrigendum: Alterations of the Gut Microbiota in Multiple System Atrophy Patients.

[This corrects the article DOI: 10.3389/fnins.2019.

Alterations of the Gut Microbiota in Multiple System Atrophy Patients.

Multiple system atrophy (MSA) is a fatal neurodegenerative disease, and the pathogenesis is still quite challenging. Emerging evidence has shown that the brain-gut-microbiota axis served a pivotal role in neurological diseases; however, researches utilizing metagenomic sequencing to analyze the alteration in gut microbiota of MSA patients were quite rare. Here, we carried out metagenomic sequencing in feces of 15 MSA patients and 15 healthy controls, to characterize the alterations in gut microbial composition and function of MSA patients in mainland China.

RNA Expression Profile and Potential Biomarkers in Patients With Spinocerebellar Ataxia Type 3 From Mainland China.

Long non-coding RNAs (lncRNAs) play an important role in growth, development, and reproduction and undoubtedly contribute to the pathogenesis and progression of diseases. Emerging evidence suggests the involvement of lncRNAs as regulatory factors in pathological conditions, including some neurodegenerative diseases. Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD) has a prominent prevalence in China.

Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?

Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1-5/100,000. To this date, two major ancestral lineages have been found throughout the world. In China, the relative frequency of MJD among the SCAs reaches as high as 63%, however, little is known about its mutational origin in this country.

Identifying Ataxia With Novel Mutations in a Chinese Population.

Variants in have been widely reported in ataxia patients in Europe, with highly variable clinical phenotype. Until now, no mutation of ataxia has been reported among the Chinese population. Our aim was to screen for ataxia patients in China and extend the clinicogenetic spectrum.

Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease.

DNA methylation has been reported as an important regulator of genomic structure stability, including large tandem repeats. To test the modulation effect of variants in DNA methylation-related genes on distribution of expanded (CAG) alleles and age at onset (AO) of patients with Machado-Joseph disease (MJD), we conducted an association analysis on 23 selected SNPs in these genes in 613 patients with MJD and 581 controls. There were significant differences in the distribution of rs12957023 between patients and controls (OR = 1.

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice.

Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ophthalmoplegia, dysphagia, and distal muscle atrophy. It is caused by the abnormal expansion of CAG repeats in a coding region of . However, by focusing on the itself cannot fully explain the heterogeneous clinical features of SCA3/MJD.

Investigation on modulation of DNA repair pathways in Chinese MJD patients.

It has been reported that DNA repair pathways could modify age at onset (AO) in Huntington disease (HD) and spinocerebellar ataxias. We genotyped 22 SNPs from DNA repair pathways in a large cohort of 798 Chinese Machado-Joseph disease patients to investigate the association with AO, and no significant finding was observed. Our findings did not provide a strong evidence for the modulatory effect of DNA repair pathways on the AO of Chinese Machado-Joseph disease patients.

Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Whole-exome sequencing (WES), one of the next-generation sequencing (NGS), has become a powerful tool to identify exonic variants. Investigating causality of the sequence variants in human disease becomes an important part in NGS for the research and clinical applications. Recently, important guidelines on them have been published and will keep on updating.