Publications by authors named "Xuan Hou"

37 Publications

A New Model for Estimation of the Age at Onset in Spinocerebellar Ataxia Type 3.

Neurology 2021 Apr 23. Epub 2021 Apr 23.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008, China

ObjectivesThis study was to develop an appropriate parametric survival model to predict patient's age at onset (AAO) for Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) populations from mainland China.MethodsWe compared the efficiency and performance of six parametric survival analysis methods (exponential, weibull, log-gaussian, gaussian, log-logistic and logistic) based on CAG repeat length at to predict the probability of AAO in the largest cohort of SCA3/MJD patients. A set of evaluation criteria, including -2 log-likelihood statistic, Akaike's information criterion (AIC), Bayesian information criterion (BIC), Nagelkerke R square (Nagelkerke R^2) and Cox-Snell residual plot, were used to indentify the best model.ResultsAmong these six parametric survival models, the logistic model had the lowest -2 log-likelihood (6560.12), AIC (6566.12), BIC (6566.14), and the highest value of Nagelkerke R^2 (0.54), with closest graph to the bisector Cox-Snell residual graph. Therefore, the logistic survival model was the best fit to the studied data. Based on the optimal logistic survival model, we indicated the age-specific probability distribution of AAO according to the CAG repeat size and current age.ConclusionsWe first demonstrated logistic survival model provided the best fit for AAO prediction in SCA3/MJD patients from mainland China. This optimal model can be valuable in clinical and research. However, the rigorous clinical testing and practice of other independent cohorts are needed for its clinical applications. A unified model across multi-ethnic cohorts is worth further exploration by identifying regional differences and significant modifiers in AAO determination.
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http://dx.doi.org/10.1212/WNL.0000000000012068DOI Listing
April 2021

Mass segmentation for whole mammograms via attentive multi-task learning framework.

Phys Med Biol 2021 Apr 21. Epub 2021 Apr 21.

Northwestern Polytechnical University, Xi'an, CHINA.

Mass segmentation in the mammogram is a necessary and challenging task in the computer-aided diagnosis of breast cancer. Most of the existing methods tended to segment the mass by manually or automatically extracting mass-centered image patches. However, manual patch extraction is time-consuming, and automatic patch extraction can introduce errors that will affect the performance of subsequent segmentation.In order to improve the efficiency of mass segmentation and reduce segmentation errors, we proposed a novel mass segmentation method based on an attentive multi-task learning network (MTLNet), which is an end-to-end model to accurately segment mass in the whole mammogram directly, without the need for extraction in advance with the center of mass image patch. In MTLNet, we applied group convolution to the feature extraction network, which not only reduced the redundancy of the network but also improved the capacity of feature learning. Secondly, an attention mechanism is added to the backbone to highlight the feature channels that contain rich information. Eventually, the multi-task learning framework is employed in the model, which reduces the risk of model overfitting and enables the model not only to segment the mass but also to classify and locate the mass. We \hl{used five-fold cross validation to evaluate the performance of the proposed method under detection and segmentation tasks respectively on the two public mammographic datasets INbreast and CBIS-DDSM, and our method achieved the Dice index of 0.826 on INbreast and 0.863 on CBIS-DDSM.
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http://dx.doi.org/10.1088/1361-6560/abfa35DOI Listing
April 2021

Facile Bioself-Assembled Crystals in Plants Promote Photosynthesis and Salt Stress Resistance.

ACS Nano 2021 03 23;15(3):5165-5177. Epub 2021 Feb 23.

Key Laboratory of Pollution Processes and Environmental Criteria (Ministry of Education)/Tianjin Key Laboratory of Environmental Remediation and Pollution Control, College of Environmental Science and Engineering, Nankai University, Tianjin 300350, China.

Salty soil is a global problem that has adverse effects on plants. We demonstrate that bioself-assembled molybdenum-sulfur (Mo-S) crystals formed by the foliar application of MoCl and cysteine augment the photosynthesis of plants treated with 200 mM salt for 7 days by promoting Ca signal transduction and free radical scavenging. Reductions in glutathione and phytochelatins were attributed to the biosynthesized Mo-S crystals. Plants embedded with the Mo-S crystals and exposed to salty soil exhibited carbon assimilation rates, photosynthesis rates (Fv/Fm), and electron transport rates (ETRs) that were increased by 40%, 63-173%, and 50-78%, respectively, compared with those of plants without Mo-S crystals. Increased compatible osmolyte levels and decreased levels of oxidative damage, stomatal conductance (0.63-0.42 mmol m s), and transpiration (22.9-15.3 mmol m s), free radical scavenging, and calcium-dependent protein kinase, and Ca signaling pathway activation were evidenced by transcriptomics and metabolomics. The bioself-assembled crystals originating from ions provide a method for protecting plant development under adverse conditions.
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http://dx.doi.org/10.1021/acsnano.0c10351DOI Listing
March 2021

Nanohole-boosted electron transport between nanomaterials and bacteria as a concept for nano-bio interactions.

Nat Commun 2021 01 21;12(1):493. Epub 2021 Jan 21.

Key Laboratory of Pollution Processes and Environmental Criteria (Ministry of Education)/Tianjin Key Laboratory of Environmental Remediation and Pollution Control, College of Environmental Science and Engineering, Nankai University, 300350, Tianjin, China.

Biofilms contribute to bacterial infection and drug resistance and are a serious threat to global human health. Antibacterial nanomaterials have attracted considerable attention, but the inhibition of biofilms remains a major challenge. Herein, we propose a nanohole-boosted electron transport (NBET) antibiofilm concept. Unlike known antibacterial mechanisms (e.g., reactive oxygen species production and cell membrane damage), nanoholes with atomic vacancies and biofilms serve as electronic donors and receptors, respectively, and thus boost the high electron transport capacity between nanomaterials and biofilms. Electron transport effectively destroys the critical components (proteins, intercellularly adhered polysaccharides and extracellular DNA) of biofilms, and the nanoholes also significantly downregulate the expression of genes related to biofilm formation. The anti-infection capacity is thoroughly verified both in vitro (human cells) and in vivo (rat ocular and mouse intestinal infection models), and the nanohole-enabled nanomaterials are found to be highly biocompatible. Importantly, compared with typical antibiotics, nanomaterials are nonresistant and thereby exhibit high potential for use in various applications. As a proof-of-principle demonstration, these findings hold promise for the use of NBET in treatments for pathogenic bacterial infection and antibiotic drug resistance.
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http://dx.doi.org/10.1038/s41467-020-20547-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820612PMC
January 2021

[Comparative observation of acupoint thread-embedding and acupuncture therapy of for insomnia of liver depression and stagnation].

Zhongguo Zhen Jiu 2020 Dec;40(12):1277-80

College of Acupuncture- Moxibustion and Tuina, Gansu University of CM, Lanzhou 730000, China.

Objective: To compare the effect of (soothing the liver and regulating mind) acupoint thread-embedding therapy and acupuncture therapy for insomnia of liver depression and stagnation.

Methods: A total of 68 patients with insomnia of liver depression and stagnation were randomly divided into an acupoint embedding group (34 cases) and an acupuncture group (34 cases). Two groups were respectively treated with acupoint thread-embedding and acupuncture at Baihui (GV 20), Shenmen (HT 7), Neiguan (PC 6), Taichong (LR 3), Ganshu (BL 18) and Xinshu (BL 15). The treatment in the acupoint embedding group was given once a week, and in the acupuncture group was given once every other day for 6 weeks. The Pittsburgh sleep quality index (PSQI), self-rating anxiety scale (SAS), self-rating depression scale (SDS), TCM syndrome scores before and after treatment and medical expenses were compared between the two groups, and the clinical efficacy was evaluated.

Results: After treatment, the PSQI total scores, each sub-item score and SAS and SDS scores of the two groups were lower than those before treatment (<0.05); the sleep quality, time during fall asleep, sleep time, sleep efficiency, daytime dysfunction scores and PSQI total score in the acupoint embedding group after treatment were lower than those in the acupuncture group (<0.05). After treatment, except for constipation and yellowish urine, the sub-item scores and total scores of TCM syndromes in the two groups were lower than those before treatment (<0.05); the sleep disturbance score of the acupoint embedding group was lower than that of the acupuncture group (<0.05). The medical expenses in the acupoint embedding group was lower than that in the acupuncture group (<0.05). The total effective rate of the acupoint embedding group was 85.3% (29/34), and the acupuncture group was 82.4% (28/34), there was no significant difference between the two groups (>0.05).

Conclusion: acupoint thread-embedding therapy and acupuncture therapy both have significant curative effect on insomnia of liver depression and stagnation, but acupoint thread-embedding therapy is better than acupuncture therapy in improving sleep quality and reducing medical expenses.
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http://dx.doi.org/10.13703/j.0255-2930.20200614-k0002DOI Listing
December 2020

Nanocolloids in drinking water increase the risk of obesity in mice by modulating gut microbes.

Environ Int 2021 01 11;146:106302. Epub 2020 Dec 11.

Key Laboratory of Pollution Processes and Environmental Criteria (Ministry of Education)/Tianjin Key Laboratory of Environmental Remediation and Pollution Control, College of Environmental Science and Engineering, Nankai University, Tianjin 300350, China. Electronic address:

Both gut microbes and environmental contamination may cause metabolic disorders and obesity. However, the relationships among gut microbes, environmental contamination and obesity remain obscure. The drinking water on a national scale (31 cities in China) contained nanocolloid-pattern contamination at the mg/L level, a concentration that is 10- to 100-fold higher than commonly reported pollutants. Exposure to nanocolloids (environmentally related dose, 0.15 mg/kg) for three weeks increased the body weight and leptin levels of mice and decreased the expression of adiponectin. Nanocolloids increased the ratio of Firmicutes to Bacteroidetes, a typical obesity-related phenomenon, in the obese individuals. Oral administration of resveratrol verified the role of gut microbes in the tendency toward obesity induced by nanocolloids. The ratio of Firmicutes to Bacteroidetes is positively correlated with body weight and leptin levels. Compared to the control, the levels of triglycerides and high-density lipoprotein cholesterol were up- and downregulated by the tested nanocolloids at 0.15 mg/kg, respectively. Long-chain fatty acids, lipid metabolites and the expression of lipid synthesis-related genes (Fas, Srebp-1 and ACC-1) were also significantly increased by nanocolloids. The present study provides new insights that improve our understanding the risks of obesity associated with drinking water contamination that are mediated by gut microbes.
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http://dx.doi.org/10.1016/j.envint.2020.106302DOI Listing
January 2021

Central motor conduction time in spinocerebellar ataxia: a meta-analysis.

Aging (Albany NY) 2020 11 20;12(24):25718-25729. Epub 2020 Nov 20.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.

The dominantly inherited spinocerebellar ataxias (SCAs) are a large class of neurodegenerative diseases. Transcranial magnetic stimulation has been used to evaluate the function of the pyramidal tract, and central motor conduction time (CMCT) is one index used to detect pyramidal tract dysfunction. We conducted a comprehensive search of PubMed, Embase and Web of Science. Eight eligible studies were included in the meta-analysis. For upper limb CMCT, the mean difference (95% confidence interval (CI)) between the combined SCA group and the control group was 2.24 [1.76-2.72], while the mean differences (95% CIs) between the subtypes and the control group were as follows: 4.43 [3.58-5.28] for SCA1, 0.25 [-0.15,0.65] for SCA2, 1.04 [-0.37,2.46] for SCA3 and 0.49 [-0.29,1.28] for SCA6. Additionally, SCA1 significantly differed from SCA2 and SCA3 in terms of CMCT (P=0.0006 and P=0.010, respectively). We also compared lower limb CMCT between the SCA2 and control groups. The mean difference (95% CI) was 6.58 [4.49-8.67], which was clearly statistically significant. The differences in CMCT values among different subtypes suggests diverse pathological mechanisms. In general, CMCT is a promising objective index to judge the severity of disease deserving further investigation.
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http://dx.doi.org/10.18632/aging.104181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7803510PMC
November 2020

Risk factors and outcomes of bloodstream infections caused by Acinetobacter baumannii: a case-control study.

Diagn Microbiol Infect Dis 2021 Feb 30;99(2):115229. Epub 2020 Sep 30.

Department of Microbiology and Immunology, School of Basic Medical Sciences, Xi'an Jiaotong University, Xi'an, Shaanxi, China. Electronic address:

The risk factors and outcomes of patients with bloodstream infections (BSIs) caused by Acinetobacter baumannii are major concerns in clinical therapy. Multicenter case-control studies were performed to compare the clinical characteristics of 47 A. baumannii BSI patients and 124 matched controls with nonbloodstream A. baumannii infections and the clinical and molecular characteristics of BSI survivors and nonsurvivors. Additionally, the mortality of BSIs was assessed. The clinical characteristics, including neutropenia, ICU admission prior to positive culture, primary infection in the central nervous system, and carbapenem use prior to positive culture, were independently associated with BSI caused by A. baumannii. The mortality of the BSI patients was significantly higher than that of the controls. A high Pitt bacteremia score was found to be an independent predictor of mortality in the BSI patients. The healthcare-associated factors, disease severity level, or antibiotic usage increased the risks of A. baumannii BSI and related mortality.
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http://dx.doi.org/10.1016/j.diagmicrobio.2020.115229DOI Listing
February 2021

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

Mov Disord 2021 01 29;36(1):216-224. Epub 2020 Sep 29.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

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.

Methods: In this observational study, we introduced an innovative approach by systematically comparing the performance of 7 machine-learning algorithms with linear regression to explore AAO prediction in SCA3/MJD using CAG expansions of 10 polyQ-related genes, sex, and parental origin.

Results: Similar prediction performance of testing set and training set in each models were identified and few overfitting of training data was observed. Overall, the machine-learning-based XGBoost model exhibited the most favorable performance in AAO prediction over the traditional linear regression method and other 6 machine-learning algorithms for the training set and testing set. The optimal XGBoost model achieved mean absolute error, root mean square error, and median absolute error of 5.56, 7.13, 4.15 years, respectively, in testing set 1, with mean absolute error (4.78 years), root mean square error (6.31 years), and median absolute error (3.59 years) in testing set 2.

Conclusion: Machine-learning algorithms can be used to predict AAO in patients with SCA3/MJD. The optimal XGBoost algorithm can provide a good reference for the establishment and optimization of prediction models for SCA3/MJD or other polyQ diseases. © 2020 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.28311DOI Listing
January 2021

Identification of GGC repeat expansion in the gene in amyotrophic lateral sclerosis.

Neurology 2020 12 28;95(24):e3394-e3405. Epub 2020 Sep 28.

From the Department of Neurology (Y.Y., Z.L., X.H., W.L., J.N., Y.H., P.L., X.H., Q.S., Y.T., B.J., H.J., L.S, B.T., J.W.) and National Clinical Research Center for Geriatric Diseases (H.J., L.S, B.T., J.W.), Xiangya Hospital, Department of Neurology (L.H.), the Third Xiangya Hospital, Laboratory of Medical Genetics (J.X., R.D., H.J., L.S, B.T., J.W.), and Key Laboratory of Hunan Province in Neurodegenerative Disorders (J.H., L.S, B.T., J.W.), Central South University, Changsha, Hunan, PR China.

Objective: To determine whether the GGC repeats in the gene contribute to amyotrophic lateral sclerosis (ALS).

Methods: In this study, 545 patients with ALS and 1,305 healthy controls from mainland China were recruited. Several pathogenic mutations in known ALS-causative genes (including and ) and polynucleotide repeat expansions in and genes were excluded. Repeat-primed PCR and GC-rich PCR were performed to determine the GGC repeat size in . Systematic and targeted clinical evaluations and investigations, including skin biopsy and dynamic electrophysiologic studies, were conducted in the genetically affected patients.

Results: GGC repeat expansion was observed in 4 patients (numbers of repeats 44, 54, 96, and 143), accounting for ≈0.73% (4 of 545) of all patients with ALS. A comparison with 1,305 healthy controls revealed that GGC repeat expansion in was associated with ALS (Fisher exact test, 4 of 545 vs 0 of 1,305, = 0.007). Compared to patients with the neuronal intranuclear inclusion disease (NIID) muscle weakness-dominant subtype, patients with ALS phenotype carrying the abnormal repeat expansion tended to have a severe phenotype and rapid deterioration.

Conclusion: Our results suggest that ALS is a specific phenotype of NIID or that GGC expansion in is a factor that modifies ALS. These findings may help clarify the pathogenic mechanism of ALS and may expand the known clinical spectrum of NIID.
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http://dx.doi.org/10.1212/WNL.0000000000010945DOI Listing
December 2020

Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.

Ann Neurol 2020 12 3;88(6):1132-1143. Epub 2020 Oct 3.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

Objective: A recessive biallelic repeat expansion, (AAGGG) , in the RFC1 gene has been reported to be a frequent cause of late-onset ataxia. For cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), the recessive biallelic (AAGGG) genotype was present in ~92% of cases. This study aimed to examine whether the pentanucleotide repeat (PNR) was related to multiple system atrophy (MSA), which shares a spectrum of symptoms with CANVAS.

Methods: In this study, we screened the pathogenic (AAGGG) repeat and 5 other PNRs in 104 Chinese sporadic adult-onset ataxia of unknown aetiology (SAOA) patients, 282 MSA patients, and 203 unaffected individuals. Multiple molecular genetic tests were used, including long-range polymerase chain reaction (PCR), repeat-primed PCR (RP-PCR), Sanger sequencing, and Southern blot. Comprehensive clinical assessments were conducted, including neurological examination, neuroimaging, nerve electrophysiology, and examination of vestibular function.

Results: We identified biallelic (AAGGG) in 1 SAOA patient and 3 MSA patients. Additionally, 1 MSA patient had the (AAGGG) /(AAAGG) genotype with uncertain pathogenicity. We also described the carrier frequency for different PNRs in our cohorts. Furthermore, we summarized the distinct phenotypes of affected patients, suggesting that biallelic (AAGGG) in RFC1 could be associated with MSA and should be screened routinely in the MSA diagnostic workflow.

Interpretation: Our results expanded the clinical phenotypic spectrum of RFC1-related disorders and raised the possibility that MSA might share the same genetic background as CANVAS, which is crucial for re-evaluating the current CANVAS and MSA diagnostic criteria. ANN NEUROL 2020;88:1132-1143.
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http://dx.doi.org/10.1002/ana.25902DOI Listing
December 2020

No genetic evidence for the involvement of GGC repeat expansions of the NOTCH2NLC gene in Chinese patients with multiple system atrophy.

Neurobiol Aging 2021 01 15;97:144.e5-144.e7. Epub 2020 Jul 15.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China; Laboratory of Medical Genetics, Central South University, Changsha, China. Electronic address:

Recent studies have identified an expanded GGC repeat in the 5' untranslated region of the NOTCH2NLC gene as a possible pathogenic genetic cause of neuronal intranuclear inclusion disease. Converging evidence verifying the presence of the same GGC repeat expansion in patients with Alzheimer's disease, Parkinson's disease, and other neurodegenerative diseases has also received increased attention. Inspired by some of the clinical similarities between neuronal intranuclear inclusion disease and multiple system atrophy (MSA), we used repeat-primed PCR to explore the occurrence of GGC repeats in 328 patients with MSA in mainland China. Our result failed to detect any GGC repeat expansion in these patients with MSA, indicating that the NOTCH2NLC gene may not be involved in the pathogenesis of MSA.
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http://dx.doi.org/10.1016/j.neurobiolaging.2020.07.008DOI Listing
January 2021

A 2D-2D heterojunction BiWO/WS as a broad-spectrum bactericide: Sulfur vacancies mediate the interface interactions between biology and nanomaterials.

Biomaterials 2020 06 6;243:119937. Epub 2020 Mar 6.

School of Environmental Science and Engineering, Shandong University, Jinan, 250100, China; Key Laboratory for Water Quality and Conservation of the Pearl River Delta, Ministry of Education, Institute of Environmental Research at Greater Bay, Guangzhou University, Guangzhou, 510006, China.

We report a heterojunction BiWO/WS with sulfur vacancies as a broad-spectrum bactericide to efficiently kill Gram-positive and Gram-negative bacteria in vitro and in vivo under visible-light irradiation. Sulfur vacancies in single-layer WS make the surface electron-rich. Integration of BiWO with WS enhances the photoelectric activity under visible-light irradiation. Sulfur vacancies promote the generation of radicals and the extraction of membrane phospholipids from bacterial cells. Density functional theory verifies that S vacancies strengthen the interactions between the BiWO/WS surface and HO, enhancing the generation of ·OH. Two-dimensional correlation spectroscopy analysis reveals that perturbation of β-sheet proteins and formation of outer-sphere surface complexes contribute to the high antibacterial capacity. BiWO/WS accelerates the re-epithelialization and healing of infected wounds in an animal model. Uncommonly, BiWO/WS does not exhibit drug resistance and is biocompatible with human cells. Our results indicate that vacancy-functionalized heterojunctions are potentially promising antibacterial agents by regulating the interface interaction between biology and nanomaterials.
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http://dx.doi.org/10.1016/j.biomaterials.2020.119937DOI Listing
June 2020

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

Front Neurosci 2020;14:19. Epub 2020 Jan 31.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

[This corrects the article DOI: 10.3389/fnins.2019.01102.].
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http://dx.doi.org/10.3389/fnins.2020.00019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005581PMC
January 2020

Alterations of the Gut Microbiota in Multiple System Atrophy Patients.

Front Neurosci 2019 18;13:1102. Epub 2019 Oct 18.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

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. The results showed that gut microbial community of MSA patients was significantly different from healthy controls, characterized by increased genus and species , , , , and , while decreased genera , , , and and species , , , , , and . Further, functional analysis based on the KEGG database revealed aberrant functional pathways in fecal microbiome of MSA patients. In conclusion, our findings provided evidence for dysbiosis in gut microbiota of Chinese MSA cohorts and helped develop new testable hypotheses on pathophysiology of MSA.
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http://dx.doi.org/10.3389/fnins.2019.01102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6813281PMC
October 2019

Nanoholes Regulate the Phytotoxicity of Single-Layer Molybdenum Disulfide.

Environ Sci Technol 2019 Dec 12;53(23):13938-13948. Epub 2019 Nov 12.

Key Laboratory of Pollution Processes and Environmental Criteria (Ministry of Education)/Tianjin Key Laboratory of Environmental Remediation and Pollution Control, College of Environmental Science and Engineering , Nankai University , Tianjin 300350 , P. R. China.

Single-layer molybdenum disulfide (SLMoS) are applied as a hot 2D nanosheet in various fields involving water treatments. Both intentional design and environmental or biological processes induce many nanoholes in SLMoS. However, the effects of nanoholes on the environmental stability and ecotoxicity of SLMoS remain largely unknown. The present work discovered that visible-light irradiation induced nanoholes (diameters, approximately 20 nm) in the plane of SLMoS, with irregular edges and increased interplanar crystal spacing. The ratios of Mo to S in pristine and transformed SLMoS were 0.53 and 0.33, respectively. After 96 h exposure at concentrations from 0.1 to 1 mg/L, the above nanoholes promoted algal division, induced a stress-response hormesis, decreased the generation of •OH, and mitigated the cell shrinkage and wall rupture of induced by SLMoS. In terms of stress response, the nanohole-bearing SLMoS induced fewer vacuoles and polyphosphate bodies of than the pristine form. Metabolomic analysis revealed that nanoholes perturbed the metabolisms of energy, carbohydrates, and fatty acids. This work proposes that nanoholes cause obvious effects on the environmental fate and ecotoxicity of SLMoS and that the environmental risks of engineered nanomaterials should be reevaluated using nanohole-bearing rather than pristine forms for testing.
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http://dx.doi.org/10.1021/acs.est.9b04198DOI Listing
December 2019

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.

Am J Hum Genet 2019 07 6;105(1):166-176. Epub 2019 Jun 6.

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410008, China; Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410008, China.

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative disease characterized by eosinophilic intranuclear inclusions in the nervous system and multiple visceral organs. The clinical manifestation of NIID varies widely, and both familial and sporadic cases have been reported. Here we have performed genetic linkage analysis and mapped the disease locus to 1p13.3-q23.1; however, whole-exome sequencing revealed no potential disease-causing mutations. We then performed long-read genome sequencing and identified a large GGC repeat expansion within human-specific NOTCH2NLC. Expanded GGC repeats as the cause of NIID was further confirmed in an additional three NIID-affected families as well as five sporadic NIID-affected case subjects. Moreover, given the clinical heterogeneity of NIID, we examined the size of the GGC repeat among 456 families with a variety of neurological conditions with the known pathogenic genes excluded. Surprisingly, GGC repeat expansion was observed in two Alzheimer disease (AD)-affected families and three parkinsonism-affected families, implicating that the GGC repeat expansions in NOTCH2NLC could also contribute to the pathogenesis of both AD and PD. Therefore, we suggest defining a term NIID-related disorders (NIIDRD), which will include NIID and other related neurodegenerative diseases caused by the expanded GGC repeat within human-specific NOTCH2NLC.
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http://dx.doi.org/10.1016/j.ajhg.2019.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612530PMC
July 2019

Efficacy of cognitive behavioural therapy with medication for patients with obsessive-compulsive disorder: A multicentre randomised controlled trial in China.

J Affect Disord 2019 06 22;253:184-192. Epub 2019 Apr 22.

The Department of Clinical Psychology & National Clinical Research Center for Mental Disorders & Beijing Key Laboratory of Mental Disorders, Beijing Anding Hospital, Capital Medical University, and Center of Schizophrenia, Beijing Institute for Brain Disorders, No. 5 Ankang Hutong Deshengmen, WaiXicheng District, 100088 Beijing, People's Republic of China; Advanced Innovation Center for Human Brain Protection, Capital Medical University, No. 5 Ankang Hutong Deshengmen, WaiXicheng District, 100088 Beijing, People's Republic of China. Electronic address:

Background: Meta-analyses support the efficacy of cognitive behavioural therapy (CBT) for obsessive-compulsive disorder (OCD) in Western cultures. However, there are no adequately powered multicentre studies in China. This study aimed to compare the effectiveness of treatment with CBT combined with medication and medication alone in OCD patients in China.

Methods: OCD patients (N = 167) were recruited from outpatient clinics at three large tertiary psychiatric hospitals and one general hospital in China. Participants were randomly allocated to receive either CBT combined with medication (n = 92) or medication alone (n = 75) for a 24-week treatment period. Participants' symptoms and social functioning were assessed using the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS), Hamilton Anxiety Rating Scale (HAM-A), Global Assessment of Functioning (GAF) and Clinical Global Impression Scale for Severity (CGI-S) at 0, 4, 8, 12 and 24 weeks, and the effectiveness of the two treatments compared using linear mixed-effects models.

Results: At 24 weeks, both groups showed large within-group effects in all measures. Significantly more patients receiving combined therapy than medication alone had a decrease in symptom severity of at least 35% (based on Y-BOCS total score). The CGI-S and GAF scores decreased in both groups, and significant differences were found between the groups.

Limitations: Study limitations included lack of consideration of medication types and dosages, and the absence of a CBT-only arm.

Conclusions: CBT combined with medication may be effective in alleviating symptoms and social functioning impairment associated with OCD, and is more effective than medication alone in China, particularly for the treatment of compulsive behaviours.
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http://dx.doi.org/10.1016/j.jad.2019.04.090DOI Listing
June 2019

Identifying Ataxia With Novel Mutations in a Chinese Population.

Front Neurol 2018 20;9:1111. Epub 2018 Dec 20.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

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. Variants in were detected by high-throughput sequencing on a cohort of 126 unrelated index patients with unexplained autosomal recessive or sporadic ataxia. Pathogenicity assessments of variants were interpreted according to the ACMG guidelines. Potential pathogenic variants were confirmed by Sanger sequencing. Clinical assessments were conducted by two experienced neurologists. Two Chinese families with variable ataxia syndrome were identified (accounting for 1.6%; 2/126), separately caused by the novel homozygous mutation (NM_033071.3: c.21568C>T, p.Arg7190Ter), and compound heterozygous mutation (NM_033071.3: c.18684G>A, p.Trp6228Ter; c.17944C>T, p.Arg5982Ter), characterized by motor neuron impairment, mental retardation and arthrogryposis. ataxia exists in the Chinese population, as a rare form of autosomal recessive ataxia, with a complex phenotype. Our findings expanded the ethnic, phenotypic and genetic diversity of ataxia.
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http://dx.doi.org/10.3389/fneur.2018.01111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306413PMC
December 2018

Structural characterization of polysaccharides from Saposhnikovia divaricata and their antagonistic effects against the immunosuppression by the culture supernatants of melanoma cells on RAW264.7 macrophages.

Int J Biol Macromol 2018 Jul 5;113:748-756. Epub 2018 Mar 5.

Department of Immunology, School of Basic Medical Sciences, Tianjin Medical University, Tianjin 300070, China; Tianjin Key Laboratory of Cellular and Molecular Immunology, Key Laboratory of Educational Ministry of China, School of Basic Medical Sciences, Tianjin Medical University, Tianjin 300070, China. Electronic address:

Two purified native polysaccharides, namely, SDNP-1 and SDNP-2 with apparent molecular weight of 67.9×10 and 5.2×10, separately, were isolated from the water extract of Saposhnikovia divaricata by combined ion-exchange and gel permeation chromatography. The structures of these polysaccharides were characterized by high-performance gel permeation chromatography, chemical derivative analysis, GC-MS, FT-IR spectroscopy, and NMR spectroscopy. Results showed that SDNP-1 and SDNP-2 were composed of arabinose and galactose with molar ratio of approximately 1:1. The polysaccharides were deduced to be AGII-type arabinogalactans with distinct molecular weights and backbone chains. The backbone chain of SDNP-2 mainly consisted of (1→3)-linked and (1→6)-linked Galp residues with an approximate molar ratio of 1:3. Approximately half of the (1→6)-linked Galp residues were substituted at O-3, and small amounts of (1→6)-linked Galp were substituted at O-3 and O-4 by branches that mainly consisted of terminal and (1→5)-linked Araf residues. Bioactivity tests showed that SDNP-2 exhibited significant antagonistic effect against immunosuppression as shown by the cell viability of the culture supernatants of melanoma cells on RAW264.7 macrophages. However, SDNP-1 showed no effect. Thus, molecular weight and backbone chain may be the key factors for the antagonistic effects against immunosuppression.
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http://dx.doi.org/10.1016/j.ijbiomac.2018.03.022DOI Listing
July 2018

Association of TNF-α rs1799964 and IL-1β rs16944 polymorphisms with multiple system atrophy in Chinese Han population.

Int J Neurosci 2018 Aug 7;128(8):761-764. Epub 2018 Jan 7.

a Department of Neurology, Xiangya Hospital , Central South University , Changsha , P. R. China.

Background: Recent evidence suggested that several single nucleotide polymorphisms (SNPs) of inflammation-related genes (TNF-α rs1799964, IL-1α rs1800587, IL-1β rs16944, IL-8 rs4073, ICAM-1 rs5498) were associated with multiple system atrophy (MSA). Herein, we conducted this case-control study to evaluate the possible correlation between the five SNPs related to inflammation and MSA in Chinese Han population.

Methods And Patients: We recruited 154 sporadic patients with MSA and 223 health controls in this study. All subjects were genotyped for the five SNPs using polymerase chain reaction amplification and Sanger sequencing.

Results: TNF-α rs1799964, genotype distribution and minor allele frequency (MAF) showed significant differences between patients and controls, which might illustrate the minor allele C may increase the risk for MSA (genotype, P = 0.006, OR = 1.245, 95% CI = [1.066-1.455]; allele, P = 0.001, OR = 1.887, 95% CI = [1.303-2.733]). For rs16944, patients carrying AA genotype showed a nearly 5-year early age at onset (AAO) than GG genotype (50.52 ± 7.45 years vs. 54.90 ± 7.21 years, P = 0.037). No differences were found in genotype distribution and MAF of the five SNPs between patients with MSA with predominant cerebellar ataxia (MSA-C) and with predominant Parkinsonism (MSA-P).

Conclusion: Our study suggests that rs1799964 of TNF-α may act as a risk factor for MSA and the IL-1β rs16944 might be a genetic factor that modifies the AAO in MSA. Moreover, the exact mechanism of neuroinflammatory response in MSA deserves further exploration.
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http://dx.doi.org/10.1080/00207454.2017.1418346DOI Listing
August 2018

Molecular characterization and bioactivity evaluation of two novel bombinin peptides from the skin secretion of Oriental fire-bellied toad, Bombina orientalis.

Amino Acids 2018 02 2;50(2):241-253. Epub 2017 Nov 2.

Tianjin Key Laboratory on Technologies Enabling Development of Clinical Therapeutics and Diagnostics, School of Pharmacy, Tianjin Medical University, 300070, Tianjin, China.

Following the exploration of biochemicals in amphibian defensive skin secretion, great attention has been focused on the novel bioactive peptides with unique molecular structures and complicated features and functions. In this study, the skin secretion of Oriental fire-bellied toad, Bombina orientalis, was acquired to search peptides with therapeutic potential. Using "shotgun" cloning technique, a full-length peptide precursor co-encoding two novel bombinin peptides was cloned from the skin secretion-derived cDNA library of B. orientalis. The deduced peptides were identified as one bombinin-like peptide (BLP) (GIGSAILSAGKSIIKGLAKGLAEHF-NH) and one bombinin H-type peptide (BH) (IIGPVLGLVGKALGGLL-NH). The primary structures of both peptides were confirmed through reverse-phase HPLC fractionation and mass spectrometry. Secondary structural prediction revealed Bombinin-BO1 and Bombinin H-BO1 adopted α-helical structural features. In addition, the two peptides exhibited broad-spectrum antimicrobial effect against Gram-positive and Gram-negative bacteria and yeast. Meanwhile, the anticancer activity assay indicated both peptides exerted significant anticancer effects against human hepatoma cell lines tested (Hep G2/SK-HEP-1/Huh7). The peptides reported here for the first time may represent novel lead compounds for the design/development of new therapeutics for human infection and neoplastic disease.
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http://dx.doi.org/10.1007/s00726-017-2509-zDOI Listing
February 2018

[Clinical features of viral encephalitis with bilateral acute retinal necrosis syndrome].

Authors:
Xuan Hou Hong Jiang

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2016 Oct;41(10):1106-1110

Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.

Objective: To explore the clinical features of viral encephalitis with acute retinal necrosis syndrome.
 Methods: Clinical symptoms, laboratory tests, treatment and prognosis for 6 patients with viral encephalitis and acute retinal necrosis syndrome, who admitted to Xiangya Hospital from October 2013 to March 2015, were retrospectively analyzed.
 Results: Clinical features of the six cases are similar. Anti-virus treatment and anti-inflammation therapy can improve the prognosis. 
 Conclusion: Viral encephalitis with acute retinal necrosis syndrome is common and the neurological physicians need to strengthen the understanding of this disease.
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http://dx.doi.org/10.11817/j.issn.1672-7347.2016.10.016DOI Listing
October 2016

Prediction of orthostatic hypotension in multiple system atrophy and Parkinson disease.

Sci Rep 2016 Feb 12;6:21649. Epub 2016 Feb 12.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China.

Orthostatic hypotension (OH) is common in multiple system atrophy (MSA) and Parkinson disease (PD), generally assessed through a lying-to-standing orthostatic test. However, standing blood pressure may not be available due to orthostatic intolerance or immobilization for such patients. Systolic blood pressure (SBP) and diastolic blood pressure (DBP) were successively measured in supine, sitting, and standing positions in patients with MSA and PD. Receiver operating characteristic analysis was used to evaluate diagnostic performance of the drops of sitting SBP or DBP. OH and severe OH were respectively regarded as "gold standard". The drops of SBP in standing position were associated with increased disease severity for MSA and correlated with age for PD. In MSA group, drops in sitting SBP ≥ 14 mmHg or DBP ≥ 6 mmHg had highest validity for prediction of OH, and drops in sitting SBP ≥ 18 mmHg or DBP ≥ 8 mmHg for severe OH. In PD group, drops in sitting SBP ≥ 10 mmHg or DBP ≥ 6 mmHg had highest validity for prediction of OH. The lying-to-sitting orthostatic test is an alternative method for detection of OH in MSA and PD, especially when standing BP could not be validly measured due to various reasons.
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http://dx.doi.org/10.1038/srep21649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751507PMC
February 2016

[Analysis of community-associated bloodstream infections caused by Escherichia coli producing extended-spectrum β-lactamase].

Zhonghua Yi Xue Za Zhi 2015 Jul;95(26):2084-9

Objective: To compare the risk factors and resistance characterizations between the Community-associated (CA) and Hospital-associated (HA) bloodstream infections (BSIs) caused by extended-spectrum β-lactamase-producing ESBLs) Escherichia coli. Infections control strategy must be made for the spread of CA E. Coli.

Methods: Fifty-one samples of ESBLs-producing BSI E. Coli were collected in 3201 hospital affiliated of Xi'an jiaotong University School of Medicine from 2008 to 2013. Antimicrobial agents susceptibility test and ESBLs confirmation test were determined by K-B method. PFGE was used to investigate the clonality of clinical isolates. PCR amplification and sequencing were used to screen ESBLs genes. Plasmid conjugation assay was used by filter mating. An S1-PFGE assay on plasmid and southern blot were performed to determine the plasmid molecular size and resistance genes location.

Results: There were 27 community-associated samples, while 24 hospital-associated samples in 51. And patients with community-acquired infections were increasing year by year. Also there was a significant difference between patients with urinary tract infection and cancer in CA and HA. Cases of urinary tract infection were mainly CA, reaching to 18. 40 of OR value, and from 2. 161 to 156. 7 of 95% confidence interval. While Cases of cancer gave priority to HA, OR value was 0. 147 7 with 0. 034 85 to 0. 626 30 of 95% confidence interval. PFGE results did not support the evidence of clone dissemination. Among 51 strains, 26 TEM genotype, including 12 CA strains, 12 SHV genotype, including 5 CA strains, 21 CTX-M-1 genotype, including 10 CA strains , and 25 CTX-M-9 genotype. including 13 CA strains. All ESBLs resistant genotypes were no significant differences in the two groups. Conclusions Urinary tract infection is risk factor for community-aassociated bloodstream infection caused by E. Coli relatively. Degree of drug resistance of ESBLs-producing E. Coli isolated from Community-Associated Bloodstream Infections is close to Hospital-Associated. So the public health control measures are needed to prevent the further spread of CA ESBLs-producing E. Coli. [Key words] Bloodstream infection; Risk factor; Resistance; Pulsed field gel electrophoresis; Plasmid
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July 2015

miRNA profiling in autism spectrum disorder in China.

Genom Data 2015 Dec 12;6:108-9. Epub 2015 Aug 12.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.

Autism spectrum disorder (ASD) is a clinically complex and heterogeneous disorder. It is characterized by impaired social abilities, disordered language, isolated areas of interest, and repetitive behaviors. Evidence suggested that the neuropathology of ASD is widely distributed, involving epigenetic regulation in the brain. MiRNAs are a group of endogenous non-coding RNAs that play a critical role in neurodevelopment, neuroplasticity, and other fundamental neurobiological processes. To study miRNA profiling in Autism spectrum disorder in China, we performed miRNA microarray followed quantitative reverse transcription-polymerase chain reaction (qRT-PCR). Here, we describe detailed methods and analysis on these microarray data which has been deposited in Gene Expression Omnibus (GEO): GSE67979.
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http://dx.doi.org/10.1016/j.gdata.2015.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664689PMC
December 2015

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

PLoS One 2015 6;10(10):e0139738. Epub 2015 Oct 6.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, P.R. China; State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, P.R. China.

Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and immunodeficiency due to mutations in the ATM gene. We performed targeted next-generation sequencing (NGS) on three unrelated patients and identified five disease-causing variants in three probands, including two pairs of heterozygous variants (FAT-1:c.4396C>T/p.R1466X, c.1608-2A>G; FAT-2:c.4412_4413insT/p.L1472Ffs*19, c.8824C>T/p.Q2942X) and one pair of homozygous variants (FAT-3: c.8110T>G/p.C2704G, Hom). With regard to precision medicine for rare genetic diseases, targeted NGS currently enables the rapid and cost-effective identification of causative mutations and is an updated molecular diagnostic tool that merits further optimization. This high-throughput data-based strategy would propel the development of precision diagnostic methods and establish a foundation for precision medicine.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139738PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4595474PMC
June 2016

Hepatic encephalopathy coexists with acquired chronic hepatocerebral degeneration.

Neurosciences (Riyadh) 2015 Jul;20(3):277-9

Department of Neurology & Institute of Translational Medicine at University of South China, the First People`s Hospital of Chenzhou, Chenzhou, Hunan, P. R. China.

Hyperkinetic extrapyramidal syndrome is the typical clinical characteristic of acquired hepatocerebral degeneration (AHD), but is usually not observed with hepatic encephalopathy (HE). We present a case of AHD coexisting with HE. Both conditions were secondary to liver cirrhosis and hepatitis C virus infection. The brain MRI showed bilateral and symmetric high T1 signal-intensity in the globus pallidus, and diffuse high signal-intensity of the hemispheric white matter on T2-FLAIR images. As we usually neglect the existence of AHD, the diagnosis is often ignored, especially when it coexists with HE. This case highlights the need to distinguish irreversible AHD from HE.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4710335PMC
http://dx.doi.org/10.17712/nsj.2015.3.20140759DOI Listing
July 2015

[1H-proton magnetic resonance spectroscopy in patients with multiple system atrophy and 
cognitive dysfunction].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2015 Jun;40(6):639-45

Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008.

Objective: To detect metabolic changes of bilateral frontal lobe in patients with multiple system atrophy (MSA) and cognitive dysfunction by 1H-proton magnetic resonance spectroscopy (1H-MRS).


Methods: N-acetylaspartate (NAA)/creatine(Cr), choline (Cho)/Cr, myoinositol (mI)/Cr in three sides of frontal lobe were detected by 1H-MRS in 48 healthy controls, 23 patients with MSA and cognitive dysfunction and 19 patients with MSA but without cognitive dysfunction.


Results: NAA/Cr of bilateral frontal lobes in patients with MSA and cognitive dysfunction was significantly decreased compared with MSA patients without cognitive dysfunction and healthy controls (P<0.05). mI/Cr of right frontal lobes was significantly increased in patients with MSA and cognitive dysfunction compared with healthy controls (P<0.05). There was a negative correlation between NAA/Cr of bilateral frontal lobes and duration while a positive correlation between NAA/Cr of bilateral frontal lobes and MoCA score in patients with MSA and cognitive dysfunction.


Conclusion: There is a decrease in NAA/Cr and an increase in mI/Cr in frontal lobes in patients with MSA and cognitive dysfunction, which may be associated with cognitive dysfunction in MSA patients.
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http://dx.doi.org/10.11817/j.issn.1672-7347.2015.06.011DOI Listing
June 2015

[Advance in genetic research on multiple system atrophy].

Authors:
Xuan Hou Hong Jiang

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015 Jun;32(3):418-21

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China.

Multiple system atrophy (MSA) is a progressive neurodegenerative disorder. Widespread presence of glial cytoplasmic inclusions is the neuropathologic hallmark of MSA. The disease has long been considered as a sporadic disorder. However, in recent years, a few familial cases of MSA have been reported, and researches have verified certain genetic variants could increase the risk of MSA. These indicated genetic factors may play an imported role in the pathogenesis of MSA. In this review, the emerging evidence in favor of genetic players in MSA is discussed.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.03.026DOI Listing
June 2015