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  • Gu, Xiaojing  (28)
  • Ou, Ruwei  (28)
  • 1
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    Suicidal and death ideation in patients with progressive supranuclear palsy and corticobasal syndrome
    Elsevier BV ; 2020
    In:  Journal of Affective Disorders Vol. 276 ( 2020-11), p. 1061-1068
    Details
    In: Journal of Affective Disorders, Elsevier BV, Vol. 276 ( 2020-11), p. 1061-1068
    Type of Medium: Online Resource
    ISSN: 0165-0327
    URL: Article
    DOI: 10.1016/j.jad.2020.07.127
    RVK:
    XA 10000
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2020
    detail.hit.zdb_id: 1500487-9
    SSG: 12
    SSG: 5,2
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  • 2
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    Genetic Modifiers of Age at Onset for Parkinson's Disease in Asians: A Genome‐Wide Association Study
    Wiley ; 2021
    In:  Movement Disorders Vol. 36, No. 9 ( 2021-09), p. 2077-2084
    Details
    In: Movement Disorders, Wiley, Vol. 36, No. 9 ( 2021-09), p. 2077-2084
    Abstract: Age at onset (AAO) is an essential feature of Parkinson's disease (PD) and can help predict disease progression and mortality. Identification of genetic variants influencing AAO of PD could lead to a better understanding of the disease's biological mechanism and provide clinical guidance. However, genetic determinants for AAO of PD remain mostly unknown, especially in the Asian population. Objectives To identify genetic determinants for AAO of PD in the Asian population. Methods We performed a genome‐wide association meta‐analysis on AAO of PD in 5166 Chinese patients with PD (N discovery  = 3628, N replication  = 1538). We then conducted a further cross‐ethnic meta‐analysis using our results and summary statistics for the AAO of PD from the European population. Results The total heritability of AAO of PD was around 0.10 ~ 0.14, similar to that (~0.11) estimated in populations of European ancestry. One novel significant intergenic locus rs9783733 ( NDN ; PWRN4 ) was identified ( P  = 3.14E‐09, beta = 2.30, SE = 0.39). Remarkably, this variant could delay AAO of PD by ~2.43 years, with a more considerable effect on males (~3.18 years) than females (~1.45 years). The variant was suggestively significant in the cross‐ethnic meta‐analysis and suggested a positive selection in the East Asian population. Additionally, cross‐ethnic meta‐analysis identified a significant locus rs356203 in SNCA ( P  = 2.35E‐11, beta = −0.71, SE = 0.01). Conclusions These findings improve the current understanding of the genetic etiology of AAO of PD in different ethnic groups, and provide a new target for further research on PD pathogenesis and potential therapeutic options. © 2021 International Parkinson and Movement Disorder Society
    Type of Medium: Online Resource
    ISSN: 0885-3185 , 1531-8257
    URL: Issue
    URL: Article
    DOI: 10.1002/mds.v36.9
    DOI: 10.1002/mds.28621
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2021
    detail.hit.zdb_id: 2041249-6
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  • 3
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    Genetic Determinants of Survival in Parkinson's Disease in the Asian Population
    Wiley ; 2022
    In:  Movement Disorders Vol. 37, No. 8 ( 2022-08), p. 1624-1633
    Details
    In: Movement Disorders, Wiley, Vol. 37, No. 8 ( 2022-08), p. 1624-1633
    Abstract: Patients with Parkinson's disease (PD) have reduced life expectancy compared to the general population. Genetic variation was shown to play a role in the heterogeneity of survival for patients with PD, although the underlying genetic background remains poorly studied. Objective The aim was to explore the genetic determinants influencing the survival of PD. Methods We performed a genome‐wide association analysis using a Cox proportional hazards model in a longitudinal cohort of 1080 Chinese patients with PD. Furthermore, we built a clinical‐genetic model to predict the survival of patients using clinical variables combined with polygenic risk score (PRS) of survival of PD. Results The cohort was followed up for an average of 7.13 years, with 85 incidents of death. One locus rs12628329 ( RPL3 ) was significantly associated with reduced survival time by ~10.8 months ( P  = 2.72E‐08, β = 1.79, standard error = 0.32). Functional exploration suggested this variant could upregulate the expression of RPL3 and induce apoptosis and cell death. In addition, adding PRS of survival in the prediction model substantially improved survival predictability (concordance index [Cindex]: 0.936) compared with the clinical model (Cindex: 0.860). Conclusions These findings improve the current understanding of the genetic cause of survival of PD and provide a novel target RPL3 for further research on PD pathogenesis and potential therapeutic options. Our results also demonstrate the potential utility of PRS of survival in identifying patients with shorter survival and providing personalized clinical monitoring and treatment. © 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.v37.8
    DOI: 10.1002/mds.29069
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2022
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  • 4
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    Fatigue in Patients With Multiple System Atrophy : A Prospective Cohort Study
    Ovid Technologies (Wolters Kluwer Health) ; 2022
    In:  Neurology Vol. 98, No. 1 ( 2022-01-4), p. e73-e82
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 98, No. 1 ( 2022-01-4), p. e73-e82
    Abstract: Nonmotor symptoms are common in patients with multiple system atrophy (MSA), but there is limited knowledge regarding fatigue in MSA. This study aimed to investigate the frequency and evolution of fatigue and the factors related to fatigue and its progression in patients with MSA at an early stage. Methods Patients with probable MSA were comprehensively evaluated at both baseline and the 1-year follow-up, including their motor and nonmotor symptoms. Fatigue and anxiety were assessed using the Fatigue Severity Scale (FSS) and Hamilton Anxiety Rating Scale (HARS), respectively. Orthostatic hypotension (OH) was defined as a decrease in the systolic or diastolic blood pressure by at least 30 and 15 mm Hg, respectively. The binary logistic regression model and linear regression model were used to analyze the factors related to fatigue and its progression, respectively. Results This study enrolled 146 patients with MSA. The frequency of fatigue was 60.3%, 55.1%, and 64.9% in MSA, MSA with predominant parkinsonism (MSA-P), and MSA with predominant cerebellar ataxia (MSA-C), respectively. The frequency of fatigue and the FSS score in patients with MSA increased from baseline to the 1-year follow-up ( p 〈 0.05). Young age (odds ratio [OR] 0.939, 95% confidence interval [CI] 0.894–0.987), OH (OR 2.806, 95% CI 1.253–6.286), and high HARS score (OR 1.014, 95% CI 1.035–1.177) were associated with fatigue in MSA. OH was associated with fatigue in MSA-P (OR 3.391, 95% CI 1.066–10.788), while high HARS score was associated with fatigue in MSA-C (OR 1.159, 95% CI 1.043–1.287). In addition, only low FSS scores at baseline were associated with the annual progression rate of FSS scores in MSA, MSA-P, and MSA-C ( p 〈 0.05). Neurofilament light chain, α-synuclein, glial fibrillary acidic protein, brain-derived neurotrophic factor, and triggering receptor expressed on myeloid cell-2 were not significantly associated with fatigue and its progression in MSA. Discussion Fatigue was prevalent in early-stage MSA, and it increased and remained persistent over time. This study demonstrated that OH and anxiety were associated with fatigue in patients with MSA.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000012968
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
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  • 5
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    No association between 5 new GWAS-linked loci in Parkinson's disease and multiple system atrophy in a Chinese population
    Elsevier BV ; 2018
    In:  Neurobiology of Aging Vol. 67 ( 2018-07), p. 202.e7-202.e8
    Details
    In: Neurobiology of Aging, Elsevier BV, Vol. 67 ( 2018-07), p. 202.e7-202.e8
    Type of Medium: Online Resource
    ISSN: 0197-4580
    URL: Article
    DOI: 10.1016/j.neurobiolaging.2018.03.027
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2018
    detail.hit.zdb_id: 1498414-3
    SSG: 12
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  • 6
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    Mutation Screening of TFG in α‐Synucleinopathy and Amyotrophic Lateral Sclerosis
    Wiley ; 2022
    In:  Movement Disorders Vol. 37, No. 8 ( 2022-08), p. 1756-1761
    Details
    In: Movement Disorders, Wiley, Vol. 37, No. 8 ( 2022-08), p. 1756-1761
    Abstract: Recently, p.R383H in TFG was identified as the disease cause in a family with α‐synucleinopathy and amyotrophic lateral sclerosis (ALS). However, no further replication has been conducted in larger cohorts. Objective The aim was to explore the genetic role of TFG in α‐synucleinopathy and ALS. Methods We analyzed the rare protein‐coding variants in patients with Parkinson's disease (PD), ALS, multiple system atrophy (MSA), spastic paraplegia (N = 2709), and 7536 controls with whole‐exome sequencing. Results Nine rare variants were identified in PD and two in MSA. One PD patient carried the same variant p.R383H. Similarly, this patient developed early‐onset PD with bradykinesia and rigidity on the left side as the initial symptoms. However, at the gene level, rare variants of TFG were not enriched in patients . Conclusions Rare variants of TFG were not enriched in α‐synucleinopathy and ALS. However, we could not deny the potential pathogenicity of specific variants such as p.R383H. Further exploration is still necessary. © 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.v37.8
    DOI: 10.1002/mds.29079
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2041249-6
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  • 7
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    Reference values for the motor unit number index and the motor unit size index in five muscles
    Wiley ; 2020
    In:  Muscle & Nerve Vol. 61, No. 5 ( 2020-05), p. 657-661
    Details
    In: Muscle & Nerve, Wiley, Vol. 61, No. 5 ( 2020-05), p. 657-661
    Abstract: Few reference values have been established for the motor unit number index (MUNIX) and motor unit size index (MUSIX). In this study we aimed to investigate the features of MUNIX in healthy individuals for five muscles. Methods We measured the MUNIX in the right abductor pollicis brevis (APB), abductor digiti minimi (ADM), biceps brachii (BB), tibialis anterior (TA), and trapezius (TR) muscles. Results The study enrolled 76 male and 74 female participants. The mean MUNIX and mean MUSIX of the right APB, ADM, BB, TA, and TR muscles were 191.0 ± 43.6, 179.1 ± 38.8, 179.7 ± 36.2, 152.1 ± 38.8, and 166.1 ± 40.7; and 60.4 ± 12.5, 59.3 ± 13.7, 43.8 ± 11.5, 41.3 ± 10.7, and 49.1 ± 15.2, respectively. MUNIX in these five muscles was inversely related to age. Discussion The establishment of reference values for MUNIX and MUSIX in five muscles may help in monitoring the progression of neuromuscular diseases.
    Type of Medium: Online Resource
    ISSN: 0148-639X , 1097-4598
    URL: Issue
    URL: Article
    DOI: 10.1002/mus.v61.5
    DOI: 10.1002/mus.26837
    RVK:
    XA 10000
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 1476641-3
    SSG: 12
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  • 8
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    Spatial–temporal pattern of propagation in amyotrophic lateral sclerosis and effect on survival: A cohort study
    Wiley ; 2022
    In:  European Journal of Neurology Vol. 29, No. 11 ( 2022-11), p. 3177-3186
    Details
    In: European Journal of Neurology, Wiley, Vol. 29, No. 11 ( 2022-11), p. 3177-3186
    Abstract: Clarification of propagation patterns in amyotrophic lateral sclerosis (ALS) is challenging, but understanding these has implications for individual prognostication and clinical trial design. However, systematic knowledge in this area is lacking. The aim of this study was to characterize the spatial and temporal features of propagation patterns in ALS, and to evaluate the association between propagation patterns and survival. Methods A cohort of 833 patients with ALS, diagnosed between January 2018 and December 2019 and followed to August 2021, was analysed. Spatial and temporal features of propagation patterns were determined based on the involved functional regions (bulbar, cervical, thoracic/respiratory and lumbar) in time order. The final propagation pattern was identified in patients with at least three functional regions involved. Kaplan–Meier analysis and Cox regression analysis were performed. Results During a median follow‐up of 21.2 months, 19 final propagation patterns were identified in 657 patients (78.9%). In survival analysis, we found that the earlier the respiratory functional region becomes involved, the higher the risk of death (time order: 1st: hazard ratio [HR], 3.35, 95% confidence interval [CI] 1.23–9.15; 2nd: HR 2.45, 95% CI 1.55–3.87; 3rd: HR 1.94, 95% CI 1.52–2.49), adjusting for age, sex, diagnostic delay, revised ALS Functional Rating Scale score, cognitive impairment and riluzole. Shorter interval time between involved regions was an independent adverse prognostic factor. Conclusions The propagation patterns of ALS are varied. The order in which the respiratory region becomes involved and the interval time between involvement of functional regions are predictors for prognosis.
    Type of Medium: Online Resource
    ISSN: 1351-5101 , 1468-1331
    URL: Issue
    URL: Article
    DOI: 10.1111/ene.v29.11
    DOI: 10.1111/ene.15527
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2020241-6
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  • 9
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    Image_2.TIFF
    Frontiers Media SA ; 2021
    In:  Frontiers in Neurology Vol. 11 ( 2021-1-27)
    Details
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 11 ( 2021-1-27)
    Abstract: Purpose: Falls are common and are frequently accompanied by injuries in patients with spinocerebellar ataxias type 3 (SCA3). We explored which factors could predict falls in a cohort of patients with SCA3 and developed a nomogram model to predict the first fall in non-fallen patients with SCA3. Method: We conducted a prospective cohort study. Forty-four non-fallen patients with SCA3 were followed up until the first fall or November 5, 2020, whichever came first. Univariate and multivariate Cox proportional hazard regression analyses were applied to explore the predictive factors of falls in patients with SCA3. A nomogram model predicting the no-fall probabilities at 3, 6, 12, and 24 months was formulated based on the results of the multivariate Cox analysis. Internal validation was conducted to assess the discrimination and calibration of the final model using bootstrapping with 1,000 resamples. Results: Multivariate Cox proportional hazard regression showed that the presence of dystonia, hyperreflexia, urinary incontinence, and hidrosis and the number of abnormal eye movements predicted a more rapid progression to falls in patients with SCA3. The nomogram model showed good discrimination with a concordance index of 0.83 and good calibration. Conclusion: Patients with dystonia, hyperreflexia, urinary incontinence, and hidrosis, and more types of abnormal eye movement had a more rapid progression to falls in SCA3.
    Type of Medium: Online Resource
    ISSN: 1664-2295
    URL: Article
    URL: Article
    URL: Article
    DOI: 10.3389/fneur.2020.602003
    DOI: 10.3389/fneur.2020.602003.s001
    DOI: 10.3389/fneur.2020.602003.s002
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2564214-5
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  • 10
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    The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington’s Disease from China: A Cross-Sectional Study
    MDPI AG ; 2022
    In:  Journal of Clinical Medicine Vol. 12, No. 1 ( 2022-12-27), p. 206-
    Details
    In: Journal of Clinical Medicine, MDPI AG, Vol. 12, No. 1 ( 2022-12-27), p. 206-
    Abstract: Huntington’s disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. There is a paucity of comprehensive clinical analysis in Chinese HD patients due to the low prevalence of HD in Asia. We aimed to comprehensively describe the motor, neuropsychiatric symptoms, and functional assessment in patients with HD from China. A total of 205 HD patients were assessed by the Unified Huntington’s Disease Rating Scale (UHDRS), the short version of Problem-Behavior Assessment (PBA-s), Hamilton Depression Scale (HAMD) and Beck Depression Inventory (BDI). Multivariate logistic regression analysis was used to explore the independent variables correlated with neuropsychiatric subscales. The mean age of motor symptom onset was 41.8 ± 10.0 years old with a diagnostic delay of 4.3 ± 3.8 years and a median CAG repeats of 44. The patients with a positive family history had a younger onset and larger CAG expansion than the patients without a family history (p 〈 0.05). There was a significant increase in total motor score across disease stages (p 〈 0.0001). Depression (51%) was the most common neuropsychiatric symptom at all stages, whereas moderate to severe apathy commonly occurred in advanced HD stages. We found lower functional capacity and higher HAMD were independently correlated with irritability; higher HAMD and higher BDI were independently correlated with affect; male sex and higher HAMD were independently correlated with apathy. In summary, comprehensive clinical profile analysis of Chinese HD patients showed not only chorea-like movement, but psychiatric symptoms were outstanding problems and need to be detected early. Our study provides the basis to guide clinical practice, especially in practical diagnostic and management processes.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    URL: Article
    DOI: 10.3390/jcm12010206
    Language: English
    Publisher: MDPI AG
    Publication Date: 2022
    detail.hit.zdb_id: 2662592-1
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