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On page 1 showing 1 ~ 4 papers out of 4 papers

Relationship between fibrinogen level and its regulatory gene with Alzheimer's disease and vascular dementia.

  • Yanan Sun‎ et al.
  • The Journal of international medical research‎
  • 2020‎

Several investigations have shown that the level of fibrinogen (Fg) is associated with the susceptibility to dementia and is usually affected by polymorphisms in its gene. Our study aimed to investigate the relationship between Fg level and the fibrinogen β (FGB) −148C/T gene polymorphism in patients with Alzheimer’s disease (AD) and vascular dementia (VaD).


Integrated microarray analysis provided a new insight of the pathogenesis of Parkinson's disease.

  • Ping Kong‎ et al.
  • Neuroscience letters‎
  • 2018‎

Parkinson's disease (PD) is the second most common neurodegenerative disease and the exact pathogenic mechanism remains mostly elusive. Our study aims to identify the key differentially expressed genes (DEGs) and up regulators in PD.


GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

  • Chunyou Cai‎ et al.
  • PloS one‎
  • 2013‎

Dopa-responsive dystonia (DRD) is a rare inherited dystonia that responds very well to levodopa treatment. Genetic mutations of GTP cyclohydrolase I (GCH1) or tyrosine hydroxylase (TH) are disease-causing mutations in DRD. To evaluate the genotype-phenotype correlations and diagnostic values of GCH1 and TH mutation screening in DRD patients, we carried out a combined study of familial and sporadic cases in Chinese Han subjects. We collected 23 subjects, 8 patients with DRD, 5 unaffected family members, and 10 sporadic cases. We used PCR to sequence all exons and splicing sites of the GCH1 and TH genes. Three novel heterozygous GCH1 mutations (Tyr75Cys, Ala98Val, and Ile135Thr) were identified in three DRD pedigrees. We failed to identify any GCH1 or TH mutation in two affected sisters. Three symptom-free male GCH1 mutation carriers were found in two DRD pedigrees. For those DRD siblings that shared the same GCH1 mutation, symptoms and age of onset varied. In 10 sporadic cases, only two heterozygous TH mutations (Ser19Cys and Gly397Arg) were found in two subjects with unknown pathogenicity. No GCH1 and TH mutation was found in 40 unrelated normal Han Chinese controls. GCH1 mutation is the main etiology of familial DRD. Three novel GCH1 mutations were identified in this study. Genetic heterogeneity and incomplete penetrance were quite common in DRD patients, especially in sporadic cases. Genetic screening may help establish the diagnosis of DRD; however, a negative GCH1 and TH mutation test would not exclude the diagnosis.


Clinical features, MRI, and 18F-FDG-PET in differential diagnosis of Parkinson disease from multiple system atrophy.

  • Ping Zhao‎ et al.
  • Brain and behavior‎
  • 2020‎

This study aimed to differentiate the variations in the clinical characteristics, MRI irregularity, and glucose metabolism on 18 F-FDG-PET for the differential diagnosis of Parkinson's Disease (PD), MSA with predominant Parkinsonism (MSA-P), and MSA with predominant cerebellar features (MSA-C).


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