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  • 1
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    Figure 4 from: Wang Y, Wan N, Tong Y, Marusik YM (2021) On the northernmost Orchestina species in China, with a first description of the female of O. zhiwui (Araneae, Oonopidae). ZooKeys 1022: 1-11. https://doi.org/10.3897/zookeys.1022.62387
    Pensoft Publishers ; 2021
    In:  ZooKeys Vol. 1022 ( 2021-03-08), p. 1-11
    Details
    In: ZooKeys, Pensoft Publishers, Vol. 1022 ( 2021-03-08), p. 1-11
    Abstract: Orchestina zhiwui Liu, Xu & amp; Henrard, 2019, a species previously known only from males collected in Jiangxi Province, was found in Liaoning, ca 2200 km northeast of the type locality, including specimens of both sexes. The previously unknown female of this species is described, and the male is redescribed. A key to species of the genus Orchestina from China is provided.
    Type of Medium: Online Resource
    ISSN: 1313-2970 , 1313-2989
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3897/zookeys.1022.62387
    DOI: 10.3897/zookeys.1022.62387.figure1
    DOI: 10.3897/zookeys.1022.62387.figure2
    DOI: 10.3897/zookeys.1022.62387.figure3
    DOI: 10.3897/zookeys.1022.62387.figure4
    Language: Unknown
    Publisher: Pensoft Publishers
    Publication Date: 2021
    detail.hit.zdb_id: 2445640-8
    SSG: 12
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  • 2
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    Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography
    Wiley ; 2023
    In:  Movement Disorders Vol. 38, No. 6 ( 2023-06), p. 978-989
    Details
    In: Movement Disorders, Wiley, Vol. 38, No. 6 ( 2023-06), p. 978-989
    Abstract: Severe reduced synaptic density was observed in spinocerebellar ataxia (SCA) in postmortem neuropathology, but in vivo assessment of synaptic loss remains challenging. Objective Spinocerebellar ataxia type 3 The objective of this study was to assess in vivo synaptic loss and its clinical correlates in spinocerebellar ataxia type 3 (SCA3) patients by synaptic vesicle glycoprotein 2A (SV2A)‐positron emission tomography (PET) imaging. Methods We recruited 74 SCA3 individuals including preataxic and ataxic stages and divided into two cohorts. All participants received SV2A‐PET imaging using 18 F‐SynVesT‐1 for synaptic density assessment. Specifically, cohort 1 received standard PET procedure and quantified neurofilament light chain (NfL), and cohort 2 received simplified PET procedure for exploratory purpose. Bivariate correlation was performed between synaptic loss and clinical as well as genetic assessments. Results In cohort 1, significant reductions of synaptic density were observed in cerebellum and brainstem in SCA3 ataxia stage compared to preataxic stage and controls. Vermis was found significantly involved in preataxic stage compared to controls. Receiver operating characteristic (ROC) curves highlighted SV2A of vermis, pons, and medulla differentiating preataxic stage from ataxic stage, and SV2A combined with NfL improved the performance. Synaptic density was significantly negatively correlated with disease severity in cerebellum and brainstem (International Co‐operative Ataxia Rating Scale: ρ ranging from −0.467 to −0.667, P  ≤ 0.002; Scale of Assessment and Rating of Ataxia: ρ ranging from −0.465 to −0.586, P  ≤ 0.002). SV2A reduction tendency of cerebellum and brainstem identified in cohort 1 was observed in cohort 2 with simplified PET procedure. Conclusions We first identified in vivo synaptic loss was related to disease severity of SCA3, suggesting SV2A PET could be a promising clinical biomarker for disease progression of SCA3. © 2023 International Parkinson and Movement Disorder Society.
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v38.6
    DOI: 10.1002/mds.29395
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2041249-6
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  • 3
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    Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy
    Wiley ; 2020
    In:  Annals of Neurology Vol. 88, No. 6 ( 2020-12), p. 1132-1143
    Details
    In: Annals of Neurology, Wiley, Vol. 88, No. 6 ( 2020-12), p. 1132-1143
    Abstract: A recessive biallelic repeat expansion, (AAGGG) exp , 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) exp 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) exp 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) exp in 1 SAOA patient and 3 MSA patients. Additionally, 1 MSA patient had the (AAGGG) exp /(AAAGG) exp 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) exp 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
    Type of Medium: Online Resource
    ISSN: 0364-5134 , 1531-8249
    URL: Issue
    URL: Article
    DOI: 10.1002/ana.v88.6
    DOI: 10.1002/ana.25902
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2037912-2
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  • 4
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    MR Imaging of SCA3/MJD
    Frontiers Media SA ; 2020
    In:  Frontiers in Neuroscience Vol. 14 ( 2020-8-4)
    Details
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 14 ( 2020-8-4)
    Type of Medium: Online Resource
    ISSN: 1662-453X
    URL: Article
    DOI: 10.3389/fnins.2020.00749
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2411902-7
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  • 5
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    CRISPR/Cas9 mediated gene correction ameliorates abnormal phenotypes in spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cells
    Springer Science and Business Media LLC ; 2021
    In:  Translational Psychiatry Vol. 11, No. 1 ( 2021-09-17)
    Details
    In: Translational Psychiatry, Springer Science and Business Media LLC, Vol. 11, No. 1 ( 2021-09-17)
    Abstract: Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative disease caused by abnormal CAG repeats in the exon 10 of ATXN3 . The accumulation of the mutant ataxin-3 proteins carrying expanded polyglutamine (polyQ) leads to selective degeneration of neurons. Since the pathogenesis of SCA3 has not been fully elucidated, and no effective therapies have been identified, it is crucial to investigate the pathogenesis and seek new therapeutic strategies of SCA3. Induced pluripotent stem cells (iPSCs) can be used as the ideal cell model for the molecular pathogenesis of polyQ diseases. Abnormal CAG expansions mediated by CRISPR/Cas9 genome engineering technologies have shown promising potential for the treatment of polyQ diseases, including SCA3. In this study, SCA3-iPSCs can be corrected by the replacement of the abnormal CAG expansions (74 CAG) with normal repeats (17 CAG) using CRISPR/Cas9-mediated homologous recombination (HR) strategy. Besides, corrected SCA3-iPSCs retained pluripotent and normal karyotype, which can be differentiated into a neural stem cell (NSCs) and neuronal cells, and maintained electrophysiological characteristics. The expression of differentiation markers and electrophysiological characteristics were similar among the neuronal differentiation from normal control iPSCs (Ctrl-iPSCs), SCA3-iPSCs, and isogenic control SCA3-iPSCs. Furthermore, this study proved that the phenotypic abnormalities in SCA3 neurons, including aggregated IC2-polyQ protein, decreased mitochondrial membrane potential (MMP) and glutathione expressions, increased reactive oxygen species (ROS), intracellular Ca 2+ concentrations, and lipid peroxidase malondialdehyde (MDA) levels, all were rescued in the corrected SCA3-NCs. For the first time, this study demonstrated the feasibility of CRISPR/Cas9-mediated HR strategy to precisely repair SCA3-iPSCs, and reverse the corresponding abnormal disease phenotypes. In addition, the importance of genetic control using CRISPR/Cas9-mediated iPSCs for disease modeling. Our work may contribute to providing a potential ideal model for molecular mechanism research and autologous stem cell therapy of SCA3 or other polyQ diseases, and offer a good gene therapy strategy for future treatment.
    Type of Medium: Online Resource
    ISSN: 2158-3188
    URL: Article
    DOI: 10.1038/s41398-021-01605-2
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2609311-X
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  • 6
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    Association of serum neurofilament light and disease severity in patients with spinocerebellar ataxia type 3
    Ovid Technologies (Wolters Kluwer Health) ; 2020
    In:  Neurology Vol. 95, No. 22 ( 2020-12-01), p. e2977-e2987
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 95, No. 22 ( 2020-12-01), p. e2977-e2987
    Abstract: 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 ATXN3 mutation carriers (17 asymptomatic stage, 20 preclinical stage, and 198 ataxic stage). We measured sNfL levels with the single molecule array (Simoa) platform. Clinical disease severity was assessed using the Scale of Assessment and Rating of Ataxia (SARA) and the Inventory of Nonataxia Signs (INAS). In a subgroup of 50 ataxic stage patients, we further evaluated the gray matter volume and the integrity of white matter fibers by MRI. Results sNfL concentrations were elevated in asymptomatic, preclinical, and ataxic ATXN3 mutation carriers compared to controls (12.18 [10.20–13.92], 21.84 [18.37–23.45] , 36.06 [30.04–45.90], and 8.24 [5.92–10.84] pg/mL, median [interquartile range], respectively, p 〈 0.001). sNfL correlated with SARA ( r = 0.406, 95% confidence interval [CI] 0.284–0.515, p 〈 0.0001) and INAS ( r = 0.375, 95% CI 0.250–0.487, p 〈 0.0001), and remained significant after adjustment for age and CAG repeats. In addition, we observed negative correlations of the sNfL with gray matter volume in the left precentral gyrus and the left paracentral lobule as well as with the mean diffusivity in widespread white matter tracts. Conclusion Our results demonstrate that sNfL levels are increased in SCA3 and are associated with clinical disease severity, which supports sNfL as a biomarker for disease severity in SCA3. Classification of evidence This study provides Class II evidence that in patients with SCA3, sNfL elevations are associated with clinical disease severity.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000010671
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2020
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  • 7
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    New Model for Estimation of the Age at Onset in Spinocerebellar Ataxia Type 3
    Ovid Technologies (Wolters Kluwer Health) ; 2021
    In:  Neurology Vol. 96, No. 23 ( 2021-06-08), p. e2885-e2895
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 96, No. 23 ( 2021-06-08), p. e2885-e2895
    Abstract: The aim of this 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. Methods We compared the efficiency and performance of 6 parametric survival analysis methods (exponential, weibull, log-gaussian, gaussian, log-logistic, and logistic) based on cytosine-adenine-guanine (CAG) repeat length at ATXN3 to predict the probability of AAO in the largest cohort of patients with SCA3/MJD. A set of evaluation criteria, including −2 log-likelihood statistic, Akaike information criterion (AIC), bayesian information criterion (BIC), Nagelkerke R-squared (Nagelkerke R^2), and Cox-Snell residual plot, were used to identify the best model. Results Among these 6 parametric survival models, the logistic model had the lowest −2 log-likelihood (6,560.12), AIC (6,566.12), and BIC (6,566.14) and the highest value of Nagelkerke R^2 (0.54), with the closest graph to the bisector Cox-Snell residual graph. Therefore, the logistic survival model was the best fit to the studied data. Using the optimal logistic survival model, we indicated the age-specific probability distribution of AAO according to the CAG repeat size and current age. Conclusions We first demonstrated that the logistic survival model provided the best fit for AAO prediction in patients with SCA3/MJD 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 application. A unified model across multiethnic cohorts is worth further exploration by identifying regional differences and significant modifiers in AAO determination.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000012068
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2021
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  • 8
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    Prediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning
    Wiley ; 2021
    In:  Movement Disorders Vol. 36, No. 1 ( 2021-01), p. 216-224
    Details
    In: Movement Disorders, Wiley, Vol. 36, No. 1 ( 2021-01), p. 216-224
    Abstract: 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
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v36.1
    DOI: 10.1002/mds.28311
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2041249-6
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  • 9
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    Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4
    Springer Science and Business Media LLC ; 2022
    In:  Genes & Genomics Vol. 44, No. 9 ( 2022-09), p. 1061-1070
    Details
    In: Genes & Genomics, Springer Science and Business Media LLC, Vol. 44, No. 9 ( 2022-09), p. 1061-1070
    Type of Medium: Online Resource
    ISSN: 1976-9571 , 2092-9293
    URL: Article
    DOI: 10.1007/s13258-022-01231-2
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2504587-8
    SSG: 12
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  • 10
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    Data_Sheet_1.docx
    Frontiers Media SA ; 2022
    In:  Frontiers in Aging Neuroscience Vol. 14 ( 2022-7-5)
    Details
    In: Frontiers in Aging Neuroscience, Frontiers Media SA, Vol. 14 ( 2022-7-5)
    Abstract: 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. Participants and Methods We enrolled patients with genetically confirmed SCA3 in Mainland China. Patients were seen at three visits, i.e., baseline, 1 year, and 2 years. The primary outcome was the Scale for the Assessment and Rating of Ataxia (SARA), and the secondary outcomes were the Inventory of Non-Ataxia Signs (INAS) as well as the SCA Functional Index (SCAFI). Results Between 1 October 2015, and 30 September 2016, we enrolled 263 patients with SCA3. We analyzed 247 patients with at least one follow-up visit. The annual progression rate of SARA was 1.49 points per year (SE 0.08, 95% confidence interval [CI] 1.33–1.65, p & lt; 0.0001). The annual progression rates of INAS and SCAFI were 0.56 points per year (SE 0.05, 95% CI 0.47–0.66, p & lt; 0.001) and −0.30 points per year (SE 0.01, 95% CI −0.33∼-0.28, p & lt; 0.001), respectively. Faster progression in SARA was associated with longer length of the expanded allele of ATXN3 ( p & lt; 0.0001); faster progression in INAS was associated with lower INAS at baseline ( p & lt; 0.0001); faster decline in SCAFI was associated with shorter length of the normal allele of ATXN3 ( p = 0.036) and higher SCAFI at baseline ( p & lt; 0.0001). Conclusion Our results provide quantitative data on the disease progression of patients with SCA3 in Mainland China and its corresponding affecting factors, which could facilitate the sample size calculation and patient stratification in future clinical trials. Trial Registration This study was registered with Chictr.org on 15 September 2015, number ChiCTR-OOC-15007124.
    Type of Medium: Online Resource
    ISSN: 1663-4365
    URL: Article
    URL: Article
    DOI: 10.3389/fnagi.2022.917126
    DOI: 10.3389/fnagi.2022.917126.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2558898-9
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