The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review

Shuang He,* Shuai Chen,* Ming-Rong Xia,* Zhi-Kun Sun, Yue Huang, Jie-Wen Zhang Department of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, Henan, 450003, China *These authors contributed equally to the work Background and purpose: Frontotemporal dementia (FTD) is the sec...

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Autores principales:	He S, Chen S, Xia MR, Sun ZK, Huang Y, Zhang JW
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2018
Materias:	Frontotemporal dementia；MAPT Aterial spin labeling MRI Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/1e501ec4801c45b6aac1589438c606d1
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spelling	oai:doaj.org-article:1e501ec4801c45b6aac1589438c606d12021-12-02T01:38:14ZThe role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review1178-2021https://doaj.org/article/1e501ec4801c45b6aac1589438c606d12018-06-01T00:00:00Zhttps://www.dovepress.com/the-role-of-mapt-gene-in-chinese-dementia-patients-a-p301l-pedigree-st-peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Shuang He,* Shuai Chen,* Ming-Rong Xia,* Zhi-Kun Sun, Yue Huang, Jie-Wen Zhang Department of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, Henan, 450003, China *These authors contributed equally to the work Background and purpose: Frontotemporal dementia (FTD) is the second most common presenile dementia characterized by behavioral changes and language impairment. The diagnosis of FTD relies heavily on neuroimaging, and sometimes on genetic screening. However, the genetic components in Chinese FTD patients remain largely unknown. Only a few FTD cases with established mutations have been reported in China. This study reported the detailed clinical and neuroimaging features in a Chinese behavioral variant FTD family. The role of MAPT gene mutation in Chinese dementia patients was also reviewed. Methods: By detailed inquiry of all affected individuals in the family, this study summarized the main clinical features of the disease. Four candidate genes (MAPT, PSEN1, PSEN2, and APP) were screened by direct sequencing. Structural magnetic resonance imaging (MRI), functional imaging of cerebral blood flow with arterial spin-labeled MRI (ASL-MRI), and cerebral metabolism with fluorodeoxyglucose positron emission tomography (FDG-PET) were collected in the proband and healthy mutation carriers. Results: By direct sequencing of candidate genes (MAPT, PSEN1, PSEN2, and APP), this study identified the P301L mutation in the MAPT gene in the proband and three unaffected family members. The phenotype of the affected cases was consistent within the pedigree. In this genetically proven behavioral variant FTD (bvFTD) patient, the maps of hypoperfusion on ASL-MRI look fairly similar to the hypometabolism on FDG-PET. The clinical feature for this bvFTD was in line with the hypoperfusion or hypometabolism pattern on functional neuroimagings. The phenotype of P301L in east Asia seems similar to western countries. Conclusion: For the inherited FTD patients, ASL-MRI and genetic identification were strongly recommended for the final diagnosis. In case of being underestimated, the role of MAPT gene mutation in Chinese FTD patients warrants further investigation. Keywords: frontotemporal dementia, MAPT, arterial spin labeling MRI, FDG-PETHe SChen SXia MRSun ZKHuang YZhang JWDove Medical PressarticleFrontotemporal dementia；MAPTAterial spin labeling MRINeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 14, Pp 1627-1633 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Frontotemporal dementia；MAPT Aterial spin labeling MRI Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Frontotemporal dementia；MAPT Aterial spin labeling MRI Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 He S Chen S Xia MR Sun ZK Huang Y Zhang JW The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
description	Shuang He,* Shuai Chen,* Ming-Rong Xia,* Zhi-Kun Sun, Yue Huang, Jie-Wen Zhang Department of Neurology, Zhengzhou University People’s Hospital, Zhengzhou, Henan, 450003, China *These authors contributed equally to the work Background and purpose: Frontotemporal dementia (FTD) is the second most common presenile dementia characterized by behavioral changes and language impairment. The diagnosis of FTD relies heavily on neuroimaging, and sometimes on genetic screening. However, the genetic components in Chinese FTD patients remain largely unknown. Only a few FTD cases with established mutations have been reported in China. This study reported the detailed clinical and neuroimaging features in a Chinese behavioral variant FTD family. The role of MAPT gene mutation in Chinese dementia patients was also reviewed. Methods: By detailed inquiry of all affected individuals in the family, this study summarized the main clinical features of the disease. Four candidate genes (MAPT, PSEN1, PSEN2, and APP) were screened by direct sequencing. Structural magnetic resonance imaging (MRI), functional imaging of cerebral blood flow with arterial spin-labeled MRI (ASL-MRI), and cerebral metabolism with fluorodeoxyglucose positron emission tomography (FDG-PET) were collected in the proband and healthy mutation carriers. Results: By direct sequencing of candidate genes (MAPT, PSEN1, PSEN2, and APP), this study identified the P301L mutation in the MAPT gene in the proband and three unaffected family members. The phenotype of the affected cases was consistent within the pedigree. In this genetically proven behavioral variant FTD (bvFTD) patient, the maps of hypoperfusion on ASL-MRI look fairly similar to the hypometabolism on FDG-PET. The clinical feature for this bvFTD was in line with the hypoperfusion or hypometabolism pattern on functional neuroimagings. The phenotype of P301L in east Asia seems similar to western countries. Conclusion: For the inherited FTD patients, ASL-MRI and genetic identification were strongly recommended for the final diagnosis. In case of being underestimated, the role of MAPT gene mutation in Chinese FTD patients warrants further investigation. Keywords: frontotemporal dementia, MAPT, arterial spin labeling MRI, FDG-PET
format	article
author	He S Chen S Xia MR Sun ZK Huang Y Zhang JW
author_facet	He S Chen S Xia MR Sun ZK Huang Y Zhang JW
author_sort	He S
title	The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
title_short	The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
title_full	The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
title_fullStr	The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
title_full_unstemmed	The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
title_sort	role of mapt gene in chinese dementia patients: a p301l pedigree study and brief literature review
publisher	Dove Medical Press
publishDate	2018
url	https://doaj.org/article/1e501ec4801c45b6aac1589438c606d1
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The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review

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