GWAS Identifies DPP6 as Risk Gene of Cognitive Decline in Parkinson's Disease.

Background: Cognitive decline is among the most common non-motor symptoms in Parkinson's disease (PD), while its physiological mechanisms remain poorly understood. Genetic factors constituted a fundamental determinant in the heterogeneity of cognitive decline among PD patients. However, the underlying genetic background was still less studied.

Longitudinal Evolution and Plasma Biomarkers for Excessive Daytime Sleepiness in Parkinson's Disease.

Background: Excessive daytime sleepiness (EDS) is one of the most frequent nonmotor symptoms in Parkinson's disease (PD); however, the pathogenesis of EDS is unclear, and there is a lack of information on plasma biomarkers for EDS in PD. We aimed to investigate the plasma biomarkers of EDS in a large PD cohort.

Methods: A total of 159 PD patients were included in the prospective cohort study and followed up annually for 3 years.

Peripheral immunity relate to disease progression and prognosis in amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Abnormalities in the peripheral immune system in ALS have been paid attention; however, the results of changes in peripheral immune parameters were inconsistent.

Methods: A total of 1109 ALS patients were enrolled in the study.

Orthostatic Hypotension in Multiple System Atrophy: Related Factors and Disease Prognosis.

Background: Multiple system atrophy (MSA) is a rare neurodegenerative disease characterized by Parkinsonism, ataxia, and autonomic nervous failure. Orthostatic hypotension (OH) is the main feature of central vascular autonomic failure in MSA.

Objective: The study aimed elucidate the effects of OH on cognitive function, disease milestones, and survival.

Freezing of gait in Parkinson's disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life.

Objectives: Mutations in glucocerebrosidase () can change the clinical phenotype of Parkinson's disease (PD). This study aimed to explore the clinical characteristics of freezing of gait (FOG) in PD patients with mutations.

Methods: A whole-exome sequencing analysis was used to identify the mutations (pathogenic or likely pathogenic) and exclude other PD-related gene mutations.

Relationship between plasma NFL and disease progression in Parkinson's disease: a prospective cohort study.

Objective: We aimed to examine the longitudinal change of plasma neurofilament light chain (NFL) level and explore its diagnostic and prognostic implications in Parkinson's disease (PD).

Methods: A total of 184 patients with early PD who completed 5-year annually repeated clinical assessments were included. Plasma NFL at baseline, 1 year, and 2 year were examined, which were quantified using the ultrasensitive Simoa technology.

Longitudinal evolution of sleep disturbances in early multiple system atrophy: a 2-year prospective cohort study.

Background: The progression of sleep disturbances remains unclear in patients with early multiple system atrophy (MSA). We aimed to explore the frequency, severity, and coexistence of 2-year longitudinal changes of sleep disturbances including REM sleep behavior disorder (RBD), excessive daytime sleepiness (EDS), and Parkinson's disease-related sleep problems (PD-SP) in early MSA.

Methods: MSA patients with a disease duration < 3 years were enrolled to complete a 2-year follow-up visit.

Association between the blood pressure variability and cognitive decline in Parkinson's disease.

Objectives: High visit-to-visit blood pressure variability (BPV) was found to be associated with cognitive decline in the elderly. This study aimed to investigate the impact of visit-to-visit BPV on cognition in patients with early-stage Parkinson's disease (PD).

Design: This is a retrospective analysis of a prospective cohort.

Plasma glial fibrillary acidic protein as a biomarker of disease progression in Parkinson's disease: a prospective cohort study.

Background: Reactive astrogliosis has been demonstrated to have a role in Parkinson's disease (PD); however, astrocyte-specific plasma glial fibrillary acidic protein (GFAP)'s correlation with PD progression remains unknown. We aimed to determine whether plasma GFAP can monitor and predict PD progression.

Methods: A total of 184 patients with PD and 95 healthy controls (HCs) were included in this prospective cohort study and followed-up for 5 years.

Modified version of unified multiple system atrophy rating scale for remote video-based assessments.

We modified the original Unified Multiple System Atrophy Rating Scale (UMSARS) for remote video-based visits by excluding ocular motor dysfunction, increased tone, and body sway, resulting in a 23-item UMSARS (mUMSARS-23). The mUMSARS-23 demonstrated excellent reliability and strong validity when compared to the original scale, making it a promising tool for conducting video-based virtual assessments in patients with multiple system atrophy.

Factors influencing cognitive function in patients with Huntington's disease from China: A cross-sectional clinical study.

Background And Aim: Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive decline contributes to the loss of daily activity in manifest HD. We aimed to examine the cognition status in a Chinese HD cohort and explore factors influencing the diverse cognitive domains.

Evolution and Predictive Role of Plasma Alzheimer's Disease-related Pathological Biomarkers in Parkinson's Disease.

Plasma Alzheimer's disease-related pathological biomarkers' role in Parkinson's disease (PD) remains unknown. We aimed to determine whether plasma Alzheimer's disease-related biomarkers can predict PD progression. A total of 184 PD patients and 86 healthy controls were included and followed up for 5 years.

Genetic Modifiers of Age at Onset for Amyotrophic Lateral Sclerosis: A Genome-Wide Association Study.

Objective: Age at onset (AAO) is an essential clinical feature associated with disease progression and mortality in amyotrophic lateral sclerosis (ALS). Identification of genetic variants and environmental risk factors influencing AAO of ALS could help better understand the disease's biological mechanism and provide clinical guidance. However, most genetic studies focused on the risk of ALS, while the genetic background of AAO is less explored.

TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.

Background And Purpose: Haploinsufficiency of TANK-binding kinase 1 (TBK1) loss-of-function (LoF) variants has been shown to be pathogenic in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the genetic spectrum of TBK1 and clinical features of ALS patients with TBK1 variants remain largely unknown in Asians.

Methods: Genetic analysis was performed on 2011 Chinese ALS patients.

Diagnostic utility of movement disorder society criteria for multiple system atrophy.

Background: The 2008 criteria for the diagnosis of multiple system atrophy (MSA) has been widely used for more than 10 years, but the sensitivity is low, particularly for patients in the early stage. Recently, a new MSA diagnostic criteria was developed.

Objective: The objective of the study was to assess and compare the diagnostic utility of the new movement disorder society (MDS) MSA criteria with the 2008 MSA criteria.

Association between peripheral adaptive immune markers and disease progression in Parkinson's disease.

Background: The pathogenesis of PD has not been fully elucidated, but recent studies have shown that the adaptive immune system may play a role in the pathology of PD. However, there is a lack of longitudinal studies exploring the relationship between peripheral adaptive immune indicators and the rate of disease progression in PD.

Methods: We included early PD patients with disease duration < 3 years and assessed the severity of clinical symptoms and peripheral adaptive immune system indicators (CD3, CD4, CD8 T lymphocyte subsets, CD4:CD8 ratio, IgG, IgM, IgA, C3, C4) at baseline.

Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.

Cyclin F (CCNF) variants have been found to be associated with amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD). However, the genetic and clinical characteristics of ALS patients who carry CCNF variants are largely unknown. Genetic analysis was performed for 1587 Chinese ALS patients, and missense variants were predicted by software analyses.

Cross-Ethnic Variant Screening and Burden Analysis of PTPA in Parkinson's Disease.

Background: Recently, homozygous variants in PTPA were identified as the disease cause for two pedigrees with early-onset parkinsonism and intellectual disability. Although the initial link between PTPA and parkinsonism has been established, further replication was still necessary.

Objectives: To evaluate the genetic role of PTPA in Parkinson's disease (PD).

The Dynamics of Dopamine D Receptor-Expressing Striatal Neurons and the Downstream Circuit Underlying L-Dopa-Induced Dyskinesia in Rats.

L-dopa (l-3,4-dihydroxyphenylalanine)-induced dyskinesia (LID) is a debilitating complication of dopamine replacement therapy for Parkinson's disease. The potential contribution of striatal D receptor (DR)-positive neurons and downstream circuits in the pathophysiology of LID remains unclear. In this study, we investigated the role of striatal DR neurons and downstream globus pallidus externa (GPe) neurons in a rat model of LID.

Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.

Background: Recently, several rare variants of SPTLC1 were identified as disease cause for juvenile amyotrophic lateral sclerosis (ALS) by disrupting the normal homeostatic regulation of serine palmitoyltransferase (SPT). However, further exploration of the rare variants in large cohorts was still necessary. Meanwhile, SPTLC2 plays a similar role as SPTLC1 in the SPT function.

Mutation screening of AOPEP variants in a large dystonia cohort.

Study Objectives: Recently, AOPEP has been identified to be a novel causative gene of autosomal-recessive dystonia. However, no large cohort study has been conducted to confirm the association. We aimed to systematically evaluate the genetic associations of AOPEP with dystonia in a large Chinese dystonia cohort.

Prediction of early-wheelchair dependence in multiple system atrophy based on machine learning algorithm: A prospective cohort study.

Objective: The predictive factors for wheelchair dependence in patients with multiple system atrophy (MSA) are unclear. We aimed to explore the predictive factors for early-wheelchair dependence in patients with MSA focusing on clinical features and blood biomarkers.

Methods: This is a prospective cohort study.