ArticleJournal of human genetics2016
Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Updated meta-analysis of the role of APOE ε2/ε3/ε4 alleles in frontotemporal lobar degeneration.Oncotarget · 2017Pooled it
- Article
- Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.Alzheimer's research & therapy · 2024Article
- A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.Molecular genetics & genomic medicine · 2023Review
- C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.Annals of clinical and translational neurology · 2023Article
- Clinical features and biomarkers of semantic variant primary progressive aphasia with MAPT mutation.Alzheimer's research & therapy · 2023Article
- VCP-related myopathy: a case series and a review of literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.Journal of Alzheimer's disease : JAD · 2023Review
- Multisystem Proteinopathy Due toGenes · 2022Review
- Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.International journal of molecular sciences · 2022Review
- Nucleocytoplasmic Transport: Regulatory Mechanisms and the Implications in Neurodegeneration.International journal of molecular sciences · 2021Review
- The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients.Frontiers in aging neuroscience · 2021Article
- The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series.Journal of Alzheimer's disease : JAD · 2021Article
- Recent advances in the genetics of frontotemporal dementia.Current genetic medicine reports · 2019Article
- A Longitudinal Study of a Chinese Man Presenting with Non-Fluent/Agrammatic Variant of Primary Progressive Aphasia.Frontiers in neurology · 2018Article
- The role ofNeuropsychiatric disease and treatment · 2018Article
- Mutations in the Human AAAFrontiers in molecular biosciences · 2016Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alzheimer's disease (AD) and frontotemporal dementia (FTD) are two common forms of primary neurodegenerative dementia that show overlapping clinical symptoms. The aim of this study was to perform genetic analyses on GRN, VCP, CHMP2B, FUS, TARDBP, C9orf72 and MAPT genes in Chinese AD and FTD patients. We performed gene sequencing of the GRN, VCP, CHMP2B, FUS, TARDBP, MAPT and C9orf72 genes in 61 clinical AD and 38 FTD Chinese patients. We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. Two novel variations in VCP (p.Thr127Ala, c. 379A>G; p.Asn401Ser, c.1202A>G) were present in both a sporadic FTD and an AD case, and a novel deletion in GRN (560del p.Leufs) was found in a sporadic primary progressive aphasia patient. Mutations of VCP, GRN and MAPT genes are present in Chinese FTD cases. In the case of the MAPT mutation, the family presented with both bvFTD and PNFA phenotypes, while the VCP mutation was also related to an early-onset AD phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.