Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.

ABSTRACT:

Background

Progranulin (GRN) mutations in frontotemporal dementia (FTD) have been less frequently reported in China than in Western countries.

Objective

This study reports a novel GRN mutation and summarizes the genetic and clinical features of patients with GRN mutations in China.

Methods

Comprehensive clinical, genetic, and neuroimaging examinations were conducted on a 58-year-old female patient diagnosed with semantic variant primary progressive aphasia. A literature review was also conducted and clinical and genetic features of patients with GRN mutations in China were summarized.

Results

Neuroimaging revealed marked lateral atrophy and hypometabolism in the left frontal, temporal, and parietal lobes. The patient was negative for pathologic amyloid and tau

SUBMITTER: Chu M 

PROVIDER: S-EPMC10200209 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature