ArticleScientific reports2016
Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- A Meta-Analysis of Alzheimer's Disease Brain Transcriptomic Data.Journal of Alzheimer's disease : JAD · 2019Pooled it
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- Prion Mutations in Republic of Republic of Korea, China, and Japan.International journal of molecular sciences · 2022Review
- Novel Dual AChE and ROCK2 Inhibitor Induces Neurogenesis via PTEN/AKT Pathway in Alzheimer's Disease Model.International journal of molecular sciences · 2022Article
- Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.Alzheimer's research & therapy · 2022Article
- Primate differential redoxome (PDR) - A paradigm for understanding neurodegenerative diseases.Redox biology · 2020Article
- Ensemble disease gene prediction by clinical sample-based networks.BMC bioinformatics · 2020Article
- Prion protein codon 129 polymorphism in mild cognitive impairment and dementia: the Rotterdam Study.Brain communications · 2020Article
- The characterization of AD/PART co-pathology in CJD suggests independent pathogenic mechanisms and no cross-seeding between misfolded Aβ and prion proteins.Acta neuropathologica communications · 2019Article
- Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.Acta neuropathologica communications · 2019Article
- Early-onset Alzheimer's disease patient with prionNeuropsychiatric disease and treatment · 2019Article
- Regional vulnerability in Alzheimer's disease: The role of cell-autonomous and transneuronal processes.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2018Article
- Characterization of mutations inNeuropsychiatric disease and treatment · 2018Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The prion protein (PRNP) gene is associated with prion diseases, whereas variants of the PRNP gene may also explain some cases of Alzheimer disease (AD) and frontotemporal dementia (FTD) in Caucasian populations. To determine the prevalence of the PRNP gene in patients with AD and FTD in China, we screened all exons of the PRNP gene in a cohort of 683 cases (606 AD and 77 FTD) in the Chinese Han population and we detected a novel missense mutation p.S17G in a late-onset AD (LOAD) patient. Furthermore, we analyzed the PRNP M/V polymorphism at codon 129, which was previously reported as a risk factor. However, there were no significant differences in genotype and allele frequency either in AD (OR = 0.75[0.378-1.49], P = 0.492), or FTD patients (OR = 2.046[0.265-15.783], P = 0.707). To our knowledge, this is the first study to reveal a correlation between the PRNP gene and Chinese AD and FTD patients in a large cohort. This study reports a novel p.S17G mutation in a clinically diagnosed LOAD patient, suggesting that the PRNP mutation is present in Chinese AD patients, whereas, M129V polymorphism is not a risk factor for AD or FTD in the Chinese Han population.
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