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.
View Article and Find Full Text PDFBackground And Purpose: Recent genetic progress has shown many causative/risk genes linked to Parkinson's disease (PD), mainly in patients of European ancestry. The study aimed to investigate the PD-related genes and determine the mutational spectrum of early-onset PD in ethnic Chinese.
Methods: In this study, whole-exome sequencing and/or gene dosage analysis were performed in 704 early-onset PD (EOPD) patients (onset age ≤45 years) and 1866 controls.
Parkinsonism Relat Disord
September 2021
Background: Genetic studies have indicated that variants in several lysosomal genes are risk factors for idiopathic Parkinson's disease (PD). However, the role of lysosomal genes in PD in Asian populations is largely unknown.
Objective: This study aimed to analyze rare variants in lysosomal related genes in Chinese population with early-onset and familial PD.
The solute carrier (SLC) transporters have been suggested to play important roles in neurodegenerative disorders. Recently, seven SLC transporters were identified to be associated with Parkinson's disease (PD) by genome-wide association studies. However, few replications were conducted, and whether rare variants in these genes were associated with PD was not explored yet.
View Article and Find Full Text PDFMembers of the transmembrane (TMEM) protein family have been identified to be associated with Parkinson's disease (PD) and other neurodegenerative disorders. However, most studies were based on the European-ancestry population and were still awaiting replications. Here, we aimed to systematically evaluate the associations of TMEMs with PD in a large Chinese early-onset PD (EOPD, age at onset <50 years) cohort.
View Article and Find Full Text PDFRecently, LRP10 has been identified as a causative gene for Parkinson's disease (PD). However, subsequent studies showed inconsistent conclusions. To explore its relevance to PD, we systematically analyzed LRP10 rare mutations in a large Han Chinese familial PD cohort of 385 unrelated probands using segregation analysis, transcriptional effect analysis, and burden test.
View Article and Find Full Text PDFBackground: Recently, members of the DnaJ homolog C (DNAJC) family have been identified to be associated with Parkinson's disease (PD) and other neurodegenerative disorders. However, most studies are based on European-ancestry population and no comprehensive analysis is further conducted.
Objectives: In this study, we aim to systematically explore the associations of DNAJCs by genetic analysis in a large Chinese early-onset PD (EOPD) cohort.
: This study aimed to investigate the effect of serotonin (5-HT) receptors in the dorsal hippocampus (dHip) on the regulation of Parkinson's disease (PD)-associated anxiety. : We examined whether intra-dHip injection of both 5-HT receptor agonist and antagonist was involved in the regulation of anxiety-like behaviors in sham-operated rats and rats with unilateral 6-hydroxydopamine (6-OHDA) lesions of the medial forebrain bundle by the open-field and elevated plus maze (EPM) tests. Four weeks after injection of 6-OHDA, the concentrations of dopamine (DA), noradrenaline (NA) and 5-hydroxytryptamine (5-HT) in relative related brain regions were measured by reverse-phase high-performance liquid chromatography.
View Article and Find Full Text PDFThe role of dorsal hippocampus (DH) serotonin (5-HT) receptors in memory is unknown, particularly in memory impairment of Parkinson's disease. We tested here effects of activation and blockade of DH 5-HT receptors on working and hippocampus-dependent memories in rats with unilateral 6-hydroxydopamine lesions of the medial forebrain bundle. The lesion induced working and hippocampus-dependent memory impairments as measured by the T-maze rewarded alternation and hole-board tests, and decreased dopamine (DA) levels in the striatum, medial prefrontal cortex (mPFC), DH and amygdala.
View Article and Find Full Text PDFPreclinical studies indicate both activation and blockade of serotonin6 (5-HT6) receptors may produce antidepressant-like effects. Depression is a common symptom in Parkinson's disease (PD); however, its pathophysiology is unclear. Here we examined whether 5-HT6 receptors in the dorsal hippocampus (DH) involve in the regulation of PD-associated depression.
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