The role of MAPT gene in Chinese dementia patients: a P301L pedigree study and brief literature review
Authors He S, Chen S, Xia MR, Sun ZK, Huang Y, Zhang JW
Received 30 October 2017
Accepted for publication 26 March 2018
Published 18 June 2018 Volume 2018:14 Pages 1627—1633
Checked for plagiarism Yes
Review by Single-blind
Peer reviewers approved by Prof. Dr. Roumen Kirov
Peer reviewer comments 3
Editor who approved publication: Professor Wai Kwong Tang
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
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