Publications by authors named "Xinxiang Yan"
Article Synopsis
- - Glucosylceramidase beta 1 (GBA1) mutations increase the risk of Parkinson's disease (PD), but many carriers don't develop symptoms; this study explores factors that may influence PD development in GBA1 carriers.
- - The research used a database with participants divided into non-manifesting GBA1 carriers, controls, and those with GBA1-associated PD, analyzing exposure to pesticides, smoking, and other factors in relation to PD risk and symptoms.
- - Findings indicated that pesticide exposure was linked to a higher risk of PD in GBA1 carriers, while smoking seemed to lower that risk; however, early-stage GBA1-associated PD had more severe symptoms than non-manifesting carriers,
Clinical features and progression of Parkinson's disease with LRRK2 variants: A prospective study.
Ann Clin Transl Neurol
November 2024
Objective: We established a prospective cohort study to investigate the differences in motor and non-motor symptoms between idiopathic Parkinson's disease (IPD) and Parkinson's disease in carriers of leucine-rich repeat kinase 2 (LRRK2) gene risk variants (LRRK2-PD).
Methods: The study included 1407 individuals with IPD and 649 individuals with LRRK2-PD (comprising 304 with LRRK2-G2385R, 220 with LRRK2-R1628P, and 105 with LRRK2-A419V). Differences in symptoms between LRRK2-PD and IPD were analyzed using LCMM modeling and Cox regression analysis.
Background: Parkinson's disease (PD) is a neurodegenerative disease caused by a combination of aging, environmental, and genetic factors. Previous research has implicated both causative and susceptibility genes in PD development. Nogo-A, a neurite outgrowth inhibitor, has been shown to impact axon growth through ligand-receptor interactions negatively, thereby involved in the deterioration of dopaminergic neurons.
View Article and Find Full Text PDFThere is an obvious clinical-pathological overlap between essential tremor and some known tremor-associated short tandem repeat expansion disorders. The aim is to analyse whether these short tandem repeat genes, including , , , , , , , , , , , , , and , are associated with familial essential tremor patients. Genetic analysis of repeat sizes in tremor-associated short tandem repeat expansions was performed in a large cohort of 515 familial essential tremor probands and 300 controls.
View Article and Find Full Text PDFTo clarify the genetic role of phospholipase A2 (PLA2) genes in Parkinson's disease (PD), we performed a genetic association study in large Chinese population cohorts using next-generation sequencing. In this study, we analyzed both rare and common variants of 38 phospholipase A2 genes in two large cohorts. We detected 1558 and 1115 rare variants in these two cohorts, respectively.
View Article and Find Full Text PDFAssociation Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson's Disease.
Tremor Other Hyperkinet Mov (N Y)
May 2024
Background: Parkinson's disease (PD) and Essential tremor (ET) are the two most common tremor diseases with recognized genetic pathogenesis. The overlapping clinical features suggest they may share genetic predispositions. Our previous study systematically investigated the association between rare coding variants in ET-associated genes and early-onset PD (EOPD), and found the suggestive association between () and EOPD.
View Article and Find Full Text PDFEstimating the sequence of biomarker changes in Parkinson's disease.
Parkinsonism Relat Disord
January 2024
Objective: To estimate the sequence of several common biomarker changes in Parkinson's disease (PD) using a novel data-driven method.
Methods: We included 374 PD patients and 169 healthy controls (HC) from the Parkinson's Progression Markers Initiative (PPMI). Biomarkers, including the left putamen striatal binding ratio (SBR), right putamen SBR, left caudate SBR, right caudate SBR, cerebrospinal fluid (CSF) α-synuclein, and serum neurofilament light chain (NfL), were selected in our study.
Article Synopsis
- The study investigates the effect of GGC repeat expansions in the NOTCH2NLC gene on Parkinson's disease (PD), focusing on their impact on dopaminergic neurons in the substantia nigra.
- Analyzing data from over 2,500 PD patients and 1,085 healthy controls, the research identifies a small percentage of patients with pathogenic GGC repeat expansions linked to neuronal loss.
- The findings indicate that these repeat expansions lead to significant degeneration of dopaminergic neurons, supporting a role in the development of Parkinson's disease.
Article Synopsis
- Neuronal intranuclear inclusion disease (NIID) is a rare progressive brain disorder primarily caused by genetic mutations and commonly presents with peripheral neuropathy symptoms in patients.
- A study on 96 NIID patients and 94 Charcot-Marie-Tooth (CMT) disease patients found that while NIID showed significant nerve conduction abnormalities, 97.9% were diagnosed with peripheral neuropathy, with certain features indicating mild axonal lesions.
- The research suggests that a combination of age of onset, distal motor latency, and median nerve action potential can effectively differentiate NIID from CMT, achieving high sensitivity and specificity in diagnostics.
Background: Progressive supranuclear palsy (PSP) is a clinically heterogenous atypical parkinsonian syndrome. Therefore, early recognition and correct diagnosis of PSP is challenging but essential. This study aims to characterize the clinical manifestations, magnetic resonance imaging (MRI), and longitudinal MRI changes of PSP in China.
View Article and Find Full Text PDFArticle Synopsis
- * This study analyzed GBA1 variants in a large sample of 4034 PD patients and 2931 healthy controls, using whole-exome and whole-genome sequencing techniques, discovering 104 variants including 8 novel ones.
- * The research revealed a higher prevalence of GBA1 variants in PD patients (7.46%) compared to controls (1.81%), and specific variants were linked to increased PD risk, earlier onset, and associated clinical symptoms like sleep disorders and depression.
Introduction: Essential tremor (ET) is one of the most common movement disorders. Oral drugs play a crucial role in treating ET, with various available options such as propranolol, primidone, and topiramate. However, the medication status and related factors among Chinese ET patients are unknown yet.
View Article and Find Full Text PDFObjective: There is controversial evidence that 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 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 CGG repeat expansions.
Objective: To investigate the risk factors for REM sleep behavior disorder (RBD) in a case-control study.
Methods: Participants with probable RBD (pRBD) were defined using the RBD Questionnaire-Hong Kong (RBDQ-HK). Controls were collected by matching age and sex.
Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
Ann Clin Transl Neurol
September 2023
Objectives: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disease caused by over 70 genes, with a significant number of patients still genetically unsolved. In this study, we recruited a suspected HSP family characterized by spasticity, developmental delay, ataxia and hypomyelination, and intended to reveal its molecular etiology by whole exome sequencing (WES) and long-read sequencing (LRS) analyses.
Methods: WES was performed on 13 individuals of the family to identify the causative mutations, including analyses of SNVs (single-nucleotide variants) and CNVs (copy number variants).
Background: Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson's disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.
Methods: Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls.
Objective: Parkinson's disease (PD) and dystonia are two closely related movement disorders with overlaps in clinical phenotype. Variants in several dystonia-related genes were demonstrated to be associated with PD; however, genetic evidence for the involvement of dystonia-related genes in PD has not been fully studied. Here, we comprehensively investigated the association between rare variants in dystonia-related genes and PD in a large Chinese cohort.
View Article and Find Full Text PDFArticle Synopsis
- The 2018 consensus introduced the term "essential tremor plus" (ET plus) to differentiate between pure essential tremor (ET) and its more complex form, which includes additional symptoms.
- A study in China assessed 1160 patients, revealing more females and older onset ages in the ET plus group compared to pure ET, as well as factors linked to ET plus, like head tremors and lower education levels.
- The findings indicate that while pure ET has a bimodal onset distribution, ET plus presents a single peak in the 6th decade, raising questions about whether they are distinct disorders or stages of the same condition.
Introduction: Although the relationship between psychiatric disorders and Parkinson's disease (PD) has attracted continuous research attention, the causal linkage between them has not reached a definite conclusion.
Methods: To identify the causal relationship between psychiatric disorders and PD, we used public summary-level data from the most recent and largest genome-wide association studies (GWASs) on psychiatric disorders and PD to conduct a bidirectional two-sample Mendelian randomization (MR). We applied stringent control steps in instrumental variable selection using the Mendelian randomization pleiotropy residual sum and outlier (MR-PRESSO) method to rule out pleiotropy.
Characteristics of fatigue in Parkinson's disease: A longitudinal cohort study.
Front Aging Neurosci
March 2023
Objective: To assess the prevalence, evolution, clinical characteristics, correlates and predictors of fatigue as well as to investigate the influence of comorbid fatigue on the longitudinal changes in motor and non-motor symptoms over a 2-year longitudinal follow-up period in a large cohort of patients with Parkinson's disease (PD).
Materials And Methods: A total of 2,100 PD patients were enrolled from the Parkinson's Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC), and their motor and non-motor symptoms were assessed biennially using comprehensive scales, including the 16-item Parkinson Fatigue Scale (PFS-16). Each PD patient was categorized as PD with or without fatigue on the basis of a cut-off mean PFS-16 score of 3.
Article Synopsis
- Parkinson's disease (PD) is linked to the loss of dopaminergic neurons, and this study explores the role of the dynamin-related protein 1 (DRP1) gene in PD among a Chinese population.
- A genetic analysis was conducted with 3,879 PD patients and 2,931 healthy controls, revealing 23 rare variants without significant differences between both groups and 201 common variants, including two notable SNPs, but these did not show strong connections to PD risk.
- Ultimately, the findings suggest that while DRP1 is important for mitochondrial function, its variants do not appear to significantly influence Parkinson's disease risk in this population.
This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progressive neurological deterioration. No cases of adult-onset EPM-11 have been reported yet.
View Article and Find Full Text PDFBackground: Studies of glymphatic dysfunction in Parkinson's disease (PD) patients have attracted much attention in recent years. However, the relationships between glymphatic dysfunction and clinical symptoms remains unclear.
Objectives: To determine whether the diffusion tensor image analysis along the perivascular space (DTI-ALPS) affect the severity and types of motor and non-motor symptoms in PD patients.
Article Synopsis
- Genome-wide association studies (GWASs) have uncovered several genetic variants linked to Parkinson's disease (PD) in the Chinese population through whole-genome sequencing involving nearly 2,000 cases and 2,500 controls, along with a replication study of over 8,200 cases and 9,400 controls.
- Researchers identified a new risk variant and confirmed four previously known variants, as well as three notable variants in the LRRK2 gene, all showing strong statistical significance for PD.
- The study suggests that genetic factors influencing PD are shared across populations, revealing both commonality and differences, and emphasizes the potential of whole-genome sequencing to enhance our understanding of PD's genetic makeup.