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

ABSTRACT:

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

SUBMITTER: He S 

PROVIDER: S-EPMC6018486 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature