Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease

CHCHD10 gene has been identified to be associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Considering the clinical phenotype and pathology characterization were overlapped between FTD and Alzheimer disease (AD), and so far, no systematic analysis of CHCHD10 mutation was conducted in patients with AD in Asian population. Therefore, we screened of all exons in CHCHD10 in a cohort of 484 AD patients (60 with family history) from Mainland China. A heterozygous variant p.A35D (c.104C>A), previously reported in a patient with FTD in Italian population, was identified in a female patient with sporadic LOAD. The age at onset of mutation carrier was 86, presented as typical amnestic dementia. The mutation was found to be deleterious according to in silico predictions and excluded in 500 ethnically and geographically matched controls. Our finding revealed the clinical manifestations of variant p.A35D (c.104C>A) in a LOAD case and indicated that CHCHD10 mutation was presented in different types of dementia.