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  • 1
    Online Resource
    Online Resource
    The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population
    Oxford University Press (OUP) ; 2020
    In:  Brain Vol. 143, No. 7 ( 2020-07-01), p. 2220-2234
    Details
    In: Brain, Oxford University Press (OUP), Vol. 143, No. 7 ( 2020-07-01), p. 2220-2234
    Abstract: This study aimed to determine the mutational spectrum of familial Parkinson’s disease and sporadic early-onset Parkinson’s disease (sEOPD) in a mainland Chinese population and the clinical features of mutation carriers. We performed multiplex ligation-dependent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with Parkinson’s disease in a mainland Chinese population, including 192 probands from families with autosomal-recessive Parkinson’s disease, 242 probands from families with autosomal-dominant Parkinson’s disease, and 1242 sEOPD patients (age at onset ≤ 50). According to standards and guidelines from the American College of Medical Genetics and Genomics, pathogenic/likely pathogenic variants in 23 known Parkinson’s disease-associated genes occurred more frequently in the autosomal-recessive Parkinson’s disease cohort (65 of 192, 33.85%) than in the autosomal-dominant Parkinson’s disease cohort (10 of 242, 4.13%) and the sEOPD cohort (57 of 1242, 4.59%), which leads to an overall molecular diagnostic yield of 7.88% (132 of 1676). We found that PRKN was the most frequently mutated gene (n = 83, 4.95%) and present the first evidence of an SNCA duplication and LRRK2 p.N1437D variant in mainland China. In addition, several novel pathogenic/likely pathogenic variants including LRRK2 (p.V1447M and p.Y1645S), ATP13A2 (p.R735X and p.A819D), FBXO7 (p.G67E), LRP10 (c.322dupC/p.G109Rfs*51) and TMEM230 (c.429delT/p.P144Qfs*2) were identified in our cohort. Furthermore, the age at onset of the 132 probands with genetic diagnoses (median, 31.5 years) was about 14.5 years earlier than that of patients without molecular diagnoses (i.e. non-carriers, median 46.0 years). Specifically, the age at onset of Parkinson’s disease patients with pathogenic/likely pathogenic variants in ATP13A2, PLA2G6, PRKN, or PINK1 was significantly lower than that of non-carriers, while the age at onset of carriers with other gene pathogenic/likely pathogenic variants was similar to that of non-carriers. The clinical spectrum of Parkinson’s disease-associated gene carriers in this mainland Chinese population was similar to that of other populations. We also detected 61 probands with GBA possibly pathogenic variants (3.64%) and 59 probands with GBA p.L444P (3.52%). These results shed insight into the genetic spectrum and clinical manifestations of Parkinson’s disease in mainland China and expand the existing repertoire of pathogenic or likely pathogenic variants involved in known Parkinson’s disease-associated genes. Our data highlight the importance of genetic testing in Parkinson’s disease patients with age at onset & lt; 40 years, especially in those from families with a recessive inheritance pattern, who may benefit from early diagnosis and treatment.
    Type of Medium: Online Resource
    ISSN: 0006-8950 , 1460-2156
    URL: Article
    DOI: 10.1093/brain/awaa167
    RVK:
    XA 10000
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2020
    detail.hit.zdb_id: 1474117-9
    SSG: 12
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  • 2
    Online Resource
    Online Resource
    Rare variant analysis of essential tremor‐associated genes in early‐onset Parkinson’s disease
    Wiley ; 2021
    In:  Annals of Clinical and Translational Neurology Vol. 8, No. 1 ( 2021-01), p. 119-125
    Details
    In: Annals of Clinical and Translational Neurology, Wiley, Vol. 8, No. 1 ( 2021-01), p. 119-125
    Abstract: Parkinson’s disease (PD) and essential tremor (ET) are the two most common movement disorders. A significant overlap in clinical features, epidemiology, imaging, and pathology suggests that PD and ET may also share common genetic risk factors. Previous studies have only assessed a limited number of ET‐associated genes in PD patients and vice versa. Consequently, the genetic association between PD and ET remains incompletely characterized. In this study, we systematically investigated a potential association between rare coding variants in ET‐associated genes and PD, in a relatively large Chinese population cohort. Methods To investigate the genetic association between ET and PD, we performed the sequence kernel association testing (SKAT‐O) to explore the variant burden of 33 ET‐associated genes, using whole‐exome sequencing (WES) data from 1494 early‐onset PD (EOPD) patients and 1357 control subjects from mainland China. Results We report that rare loss‐of‐function and damaging missense variants of TNEM4 are suggestively associated with EOPD ( P  = 0.026), damaging missense variants of TNEM4 alone are also suggestively associated with EOPD ( P  = 0.032). No other rare damaging variants in ET‐related genes were significantly associated with EOPD. Interpretation This is the first systematic analysis of ET‐associated genes in EOPD. The suggestive association between TNEM4 and EOPD provides new evidence for a genetic link between ET and PD.
    Type of Medium: Online Resource
    ISSN: 2328-9503 , 2328-9503
    URL: Issue
    URL: Article
    DOI: 10.1002/acn3.v8.1
    DOI: 10.1002/acn3.51248
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2740696-9
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  • 3
    Online Resource
    Online Resource
    Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson’s disease
    Springer Science and Business Media LLC ; 2023
    In:  npj Parkinson's Disease Vol. 9, No. 1 ( 2023-09-01)
    Details
    In: npj Parkinson's Disease, Springer Science and Business Media LLC, Vol. 9, No. 1 ( 2023-09-01)
    Abstract: GBA1 variants are important risk factors for Parkinson’s disease (PD). Most studies assessing GBA1 -related PD risk have been performed in European-derived populations. Although the coding region of the GBA1 gene in the Chinese population has been analyzed, the sample sizes were not adequate. In this study, we aimed to investigate GBA1 variants in a large Chinese cohort of patients with PD and healthy control and explore the associated clinical characteristics. GBA1 variants in 4034 patients and 2931 control participants were investigated using whole-exome and whole-genome sequencing. The clinical features of patients were evaluated using several scales. Regression analysis, chi-square, and Fisher exact tests were used to analyze GBA1 variants and the clinical symptoms of different groups. We identified 104 variants, including 8 novel variants, expanding the spectrum of GBA1 variants. The frequency of GBA1 variants in patients with PD was 7.46%, higher than that in the control (1.81%) ( P   〈  0.001, odds ratio [OR] = 4.38, 95% confidence interval [CI] : 3.26–5.89). Among patients, 176 (4.36%) had severe variants, 34 (0.84%) carried mild variants, three (0.07%) had risk variants, and 88 (2.18%) carried unknown variants. Our study, for the first time, found that p.G241R ( P  = 0.007, OR = 15.3, 95% CI: 1.25–261.1) and p.S310G ( P  = 0.005, OR = 4.86, 95% CI: 1.52–28.04) variants increased the risk of PD. Patients with GBA1 variants exhibited an earlier onset age and higher risk of probable rapid-eye-movement sleep behavior disorder, olfactory dysfunction, depression, and autonomic dysfunction than patients without GBA1 variants.
    Type of Medium: Online Resource
    ISSN: 2373-8057
    URL: Article
    DOI: 10.1038/s41531-023-00571-4
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2819218-7
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  • 4
    Online Resource
    Online Resource
    The Chinese Parkinson's Disease Registry ( CPDR ): Study Design and Baseline Patient Characteristics
    Wiley ; 2022
    In:  Movement Disorders Vol. 37, No. 7 ( 2022-07), p. 1335-1345
    Details
    In: Movement Disorders, Wiley, Vol. 37, No. 7 ( 2022-07), p. 1335-1345
    Abstract: There is a lack of large multicenter Parkinson's disease (PD) cohort studies and limited data on the natural history of PD in China. Objectives The objective of this study was to launch the Chinese Parkinson's Disease Registry (CPDR) and to report its protocol, cross‐sectional baseline data, and prospects for a comprehensive observational, longitudinal, multicenter study. Methods The CPDR recruited PD patients from 19 clinical sites across China between January 2018 and December 2020. Clinical data were collected prospectively using at least 17 core assessment scales. Patients were followed up for clinical outcomes through face‐to‐face interviews biennially. Results We launched the CPDR in China based on the Parkinson's Disease & Movement Disorders Multicenter Database and Collaborative Network (PD‐MDCNC). A total of 3148 PD patients were enrolled comprising 1623 men (51.6%) and 1525 women (48.4%). The proportions of early‐onset PD (EOPD, age at onset ≤50 years) and late‐onset PD (LOPD) were 897 (28.5%) and 2251 (71.5%), respectively. Stratification by age at onset showed that EOPD manifested milder motor and nonmotor phenotypes and was related to increased probability of dyskinesia. Comparison across genders suggested a slightly older average age at PD onset, milder motor symptoms, and a higher rate of developing levodopa‐induced dyskinesias in women. Conclusions The CPDR is one of the largest multicenter, observational, longitudinal, and natural history studies of PD in China. It offers an opportunity to expand the understanding of clinical features, genetic, imaging, and biological markers of PD progression. © 2022 International Parkinson and Movement Disorder Society.
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v37.7
    DOI: 10.1002/mds.29037
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2041249-6
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  • 5
    Online Resource
    Online Resource
    Table_7.DOCX
    Frontiers Media SA ; 2021
    In:  Frontiers in Aging Neuroscience Vol. 13 ( 2021-11-30)
    Details
    In: Frontiers in Aging Neuroscience, Frontiers Media SA, Vol. 13 ( 2021-11-30)
    Abstract: Autonomic dysfunction (AutD) is one of the non-motor symptoms (NMSs) in Parkinson’s disease (PD). To investigate the prevalence and clinical features of AutD in Chinese patients with PD, a large multicenter cohort of 2,556 individuals with PD were consecutively involved in the Parkinson’s Disease and Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC) between January 1, 2017, and December 31, 2019. The assessment of AutD was performed using the Scale for Outcomes in Parkinson’s Disease for Autonomic Symptoms (SCOPA-AUT). The evaluation of motor symptoms and other NMSs were performed using well-established scales recommended by the Movement Disorder Society. We found that out of 2,556 patients with PD, 2,333 patients with PD (91.28%) had AutD. Compared with the group of patients with PD without AutD, the group of patients with PD with AutD had older age, older age of onset, longer disease duration, more severe motor symptoms, motor complications, and more frequent NMSs. As for partial correlation analysis, the total SCOPA-AUT score was significantly and positively associated with motor severity scales [Unified Parkinson’s Disease Rating Scale (UPDRS) total score] and some of the NMSs [Rapid Eye Movement Sleep Behavior Disorder Questionnaire (RBD), Epworth Sleepiness Scale, Hamilton Depression Scale], Fatigue Severity Scale, and Parkinson’s disease questionnaire. PD Sleep Scale was significantly and negatively correlated with AutD. With logistic regression analysis for potentially related factors, age, UPDRS total score, RBD, hyposmia, depression, and fatigue may be associated with PD with AutD. In conclusion, our multicenter cohort study reported the high prevalence of AutD in Chinese PD and revealed the associated factors of PD with AutD.
    Type of Medium: Online Resource
    ISSN: 1663-4365
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fnagi.2021.761044
    DOI: 10.3389/fnagi.2021.761044.s001
    DOI: 10.3389/fnagi.2021.761044.s002
    DOI: 10.3389/fnagi.2021.761044.s003
    DOI: 10.3389/fnagi.2021.761044.s004
    DOI: 10.3389/fnagi.2021.761044.s005
    DOI: 10.3389/fnagi.2021.761044.s006
    DOI: 10.3389/fnagi.2021.761044.s007
    DOI: 10.3389/fnagi.2021.761044.s008
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2558898-9
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  • 6
    Online Resource
    Online Resource
    Data_Sheet_1.PDF
    Frontiers Media SA ; 2023
    In:  Frontiers in Aging Neuroscience Vol. 15 ( 2023-7-31)
    Details
    In: Frontiers in Aging Neuroscience, Frontiers Media SA, Vol. 15 ( 2023-7-31)
    Abstract: There is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD). We aimed to explore further the association between FMR1 CGG repeat expansions and PD in a large sample of Chinese origin. Methods We included a cohort of 2,362 PD patients and 1,072 controls from the Parkinson’s Disease and Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC) in this study and conducted repeat-primed polymerase chain reaction (RP-PCR) for the size of FMR1 CGG repeat expansions. Results Two PD patients were detected with FMR1 premutation (61 and 56 repeats), and the other eleven PD patients were detected with the GZ allele of FMR1 CGG repeat expansions. Those thirteen PD patients responded well to levodopa and were diagnosed with clinically established PD. Specifically, one female PD patient with GZ allele was also found with premature ovarian failure. However, compared to healthy controls, we found no significant enrichment of GZ allele carriers in PD patients or other subgroups of PD cases, including the subgroups of female, male, early-onset, and late-onset PD patients. Furthermore, we did not find any correlation between the FMR1 gene CGG repeat sizes and age at onset of PD. Conclusion It suggested that FMR1 premutation was related to PD, but the GZ allele of FMR1 CGG repeat expansions was not significantly enriched in PD cases of Chinese origin. Further larger multiple ethnic studies are needed to determine further the role of the FMR1 GZ allele in PD.
    Type of Medium: Online Resource
    ISSN: 1663-4365
    URL: Article
    URL: Article
    DOI: 10.3389/fnagi.2023.1234027
    DOI: 10.3389/fnagi.2023.1234027.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2558898-9
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  • 7
    Online Resource
    Online Resource
    ATP10B variants in Parkinson’s disease: a large cohort study in Chinese mainland population
    Springer Science and Business Media LLC ; 2021
    In:  Acta Neuropathologica Vol. 141, No. 5 ( 2021-05), p. 805-806
    Details
    In: Acta Neuropathologica, Springer Science and Business Media LLC, Vol. 141, No. 5 ( 2021-05), p. 805-806
    Type of Medium: Online Resource
    ISSN: 0001-6322 , 1432-0533
    URL: Article
    DOI: 10.1007/s00401-021-02280-9
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 1458410-4
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  • 8
    Online Resource
    Online Resource
    Genetic Analysis of HSP40/DNAJ Family Genes in Parkinson’s Disease: a Large Case-Control Study
    Springer Science and Business Media LLC ; 2022
    In:  Molecular Neurobiology Vol. 59, No. 9 ( 2022-09), p. 5443-5451
    Details
    In: Molecular Neurobiology, Springer Science and Business Media LLC, Vol. 59, No. 9 ( 2022-09), p. 5443-5451
    Type of Medium: Online Resource
    ISSN: 0893-7648 , 1559-1182
    URL: Article
    DOI: 10.1007/s12035-022-02920-5
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2022
    detail.hit.zdb_id: 2079384-4
    SSG: 12
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  • 9
    Online Resource
    Online Resource
    A nomogram for the prediction of the survival of patients with advanced non‐small cell lung cancer and interstitial lung disease
    Wiley ; 2023
    In:  Cancer Medicine Vol. 12, No. 10 ( 2023-05), p. 11375-11384
    Details
    In: Cancer Medicine, Wiley, Vol. 12, No. 10 ( 2023-05), p. 11375-11384
    Abstract: Lung cancer is frequently accompanied by interstitial lung disease (ILD), and the overall survival (OS) of patients with these comorbidities is poor. Thus, we developed a nomogram for the prediction of the OS of patients with advanced non‐small cell lung cancer (NSCLC) and ILD. Patients and Methods Patients with wild‐type gene advanced NSCLC with and without ILD who underwent chemotherapy between 2014 and 2019 were enrolled in the present study. The 0.5‐ and 1‐year progression‐free survival (PFS) and overall survival (OS) times of patients with and without ILD were determined using the Kaplan–Meier method. Cox regression was used to assess the prognostic value of clinical factors for patients with ILD. Based on the multivariate regression results, a nomogram for survival prediction was developed. The nomogram was validated using calibration curve. Results Data from 155 patients with lung cancer and ILD and 118 matched patients with lung cancer alone who were receiving first‐line chemotherapy were analyzed. The first‐line chemotherapy regimens were paclitaxel + carboplatin, pemetrexed + carboplatin, gemcitabine + carboplatin, and other. The median PFS and OS were significantly shorter in patients with than in those without ILD (3.0 vs. 7.0 months [ p   〈  0.001] and 7.0 vs. 15.0 months ( p   〈  0.001), respectively). Multivariate analysis showed that the lymphocyte count (hazard ratio [HR] 2.38; 95% confidence interval [CI] , 1.44–3.94; p  = 0.01), partial pressure of oxygen (PaO 2 ; HR, 1.37; 95% CI, 1.03–1.82; p  = 0.03), and chemotherapy regimen were independently associated with prognosis. The nomogram showed good discriminatory ability [C‐index = 0.69 (95% CI, 0.49–0.82)]. Calibration curves showed that predicted and actual prognoses were consistent. Conclusion This nomogram can aid the prediction of the OS of patients with advanced NSCLC and ILD.
    Type of Medium: Online Resource
    ISSN: 2045-7634 , 2045-7634
    URL: Issue
    URL: Article
    DOI: 10.1002/cam4.v12.10
    DOI: 10.1002/cam4.5852
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2659751-2
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  • 10
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    Online Resource
    Generation of Nano-Bubbles by NaHCO3 for Improving the FO Membrane Performance
    MDPI AG ; 2023
    In:  Membranes Vol. 13, No. 4 ( 2023-04-03), p. 404-
    Details
    In: Membranes, MDPI AG, Vol. 13, No. 4 ( 2023-04-03), p. 404-
    Abstract: Thin-film composite (TFC) polyamide membranes have a wide range of applications in forward osmosis, but tuning the water flux remains a significant challenge due to concentration polarization. The generation of nano-sized voids within the polyamide rejection layer can change the roughness of the membrane. In this experiment, the micro-nano structure of the PA rejection layer was adjusted by adding sodium bicarbonate to the aqueous phase to generate nano-bubbles, and the changes of its roughness with the addition of sodium bicarbonate were systematically demonstrated. With the enhanced nano-bubbles, more and more blade-like and band-like features appeared on the PA layer, which could effectively reduce the reverse solute flux of the PA layer and improve the salt rejection of the FO membrane. The increase in roughness raised the area of the membrane surface, which led to a larger area for concentration polarization and reduced the water flux. This experiment demonstrated the variation of roughness and water flux, providing an effective idea for the preparation of high-performance FO membranes.
    Type of Medium: Online Resource
    ISSN: 2077-0375
    URL: Article
    DOI: 10.3390/membranes13040404
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2614641-1
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