The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.

Background 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.

Creatine kinase in the diagnosis and prognostic prediction of amyotrophic lateral sclerosis: a retrospective case-control study.

Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis. In the present retrospective case-control study, we included 582 patients with amyotrophic lateral sclerosis and 582 age- and sex-matched healthy controls. All amyotrophic lateral sclerosis participants received treatment in the Department of Neurology, West China Hospital, China, between May 2008 and December 2018.

Mutation screening of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis/frontotemporal dementia.

Mutations in the low-complexity domain (LCD) of T-cell intracellular antigen-1 (TIA1) have been reported to be associated with amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) in the Caucasian population. In the present study, we aimed to screen mutations in the LCD (exon 11-13) of TIA1 and determine the mutation frequency in Chinese ALS/FTD patients. A total of 740 ALS patients, including 721 sporadic ALS (sALS), 19 familial ALS, 24 FTD patients, and 501 healthy controls, were directly sequenced.

Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population.

Background: The etiology of neurodegenerative disease remains unclear. Recently, SNP rs11868035, located in an intron of the sterol regulatory element binding factor (SREBF1) gene, was found to be associated with Parkinson's disease (PD) in a large European population in a genome-wide association study. To examine the possible genetic association of rs11868035 with sporadic PD, sporadic amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) in a Chinese population, we conducted this large case-control study.

[Relationship between cellulose synthesis metabolism and lodging resistance in intercropping soybean at seedling stage].

Physical characteristics of stem are closely relative to the crop lodging. Increase of stem strength is conducive to resolve the problem of lodging. Three soybean cultivars with different shade tolerance were planted under maize-soybean intercropping and soybean monocropping, respectively.

Correlative factors of cognitive dysfunction in PD patients: a cross-sectional study from Southwest China.

Background: Cognitive dysfunction is common in Parkinson's disease (PD). A comprehensive understanding of cognitive dysfunction and its correlative factors in Chinese PD patients were not available.

Methods: This cross-sectional study included 454 PD patients.

No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population.

Recently, a series of studies found that the single-nucleotide polymorphisms (SNPs) rs6812193 in the family with sequence similarity 47, member E (FAM47E), rs6825004 in the scavenger receptor class B member 2 (SCARB2) and rs4889603 in the Syntaxin1B (STX1B) genes increase the risk for Parkinson's disease (PD). However, the results of subsequent independent studies were inconsistent. To explore the associations between the three SNPs and PD in the Chinese population, a large cohort was analyzed in a case-control study.

An association analysis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population.

Background: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been reported to be responsible for autosomal dominant late-onset sporadic Parkinson's disease (PD). The R1628P and G2385R polymorphisms of the LRRK2 gene have been identified as exclusively associated with PD in Asian populations, particularly in Han Chinese population. Considering that there is overlap of the clinical manifestations and pathological characteristics between PD and MSA, we studied the possible associations between R1628P and G2385R polymorphisms of the LRRK2 and MSA in a population of Han Chinese patients.