title: Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.
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.
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Shi
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Shuai
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Xiang
authors.affiliation: Department of PET-CT Diagnostic, PET-CT Center, General Hospital of Tianjin Medical University, Tianjin, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Mengyuan
authors.initials: M
authors.lastname: Liu
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Shuling
authors.initials: S
authors.lastname: Liu
authors.affiliation: Department of Neuroradiology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Tong
authors.initials: T
authors.lastname: Han
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Yuying
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurosurgery, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Jinhuan
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of PET-CT Diagnostic, PET-CT Center, General Hospital of Tianjin Medical University, Tianjin, China.
authors.forename: Li
authors.initials: L
authors.lastname: Cai
authors.affiliation: Department of PET-CT Diagnostic, PET-CT Center, General Hospital of Tianjin Medical University, Tianjin, China.
authors.forename: Shuo
authors.initials: S
authors.lastname: Gao
authors.affiliation: Department of Neurology, Tianjin Key Laboratory of Cerebrovascular and Neurodegenerative Diseases, Tianjin Dementia Institute, Tianjin Huanhu Hospital, Tianjin, China.|Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Ji
mesh_terms: D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics; D001921:Brain / Q000473:pathology; D000073885:C9orf72 Protein; D002681:China; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D020869:Gene Expression Profiling; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D049268:Positron-Emission Tomography; D011506:Proteins / Q000235:genetics
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins