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Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease

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Abstract

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.

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Acknowledgments

The authors are grateful to all subjects for participation in our study. This study was supported through the National Basic Research Program (973 Program) (No. 2011CB510000 to Lu Shen) and the National Natural Science Foundation of China (No. 81471295 to Lu Shen).

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Authors and Affiliations

  1. Department of Neurology, Xiangya Hospital, Central South University, Changsha, China

    Tingting Xiao, Bin Jiao, Weiwei Zhang, Chuzheng Pan, Jingya Wei, Xiaoyan Liu, Yafang Zhou, Lin Zhou, Beisha Tang & Lu Shen

  2. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China

    Yafang Zhou, Lin Zhou, Beisha Tang & Lu Shen

  3. State Key Laboratory of Medical Genetics, Changsha, China

    Beisha Tang & Lu Shen

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  1. Tingting Xiao
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  2. Bin Jiao
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  9. Beisha Tang
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  10. Lu Shen
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Correspondence to Lu Shen.

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The authors report no actual or potential conflicts of interest. The study was approved by the Expert Committee of Xiangya Hospital of Central South University in China (equivalent to an Institutional Review Board), and written informed consent was obtained from all patients or their guardians.

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Xiao, T., Jiao, B., Zhang, W. et al. Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease. Mol Neurobiol 54, 5243–5247 (2017). https://doi.org/10.1007/s12035-016-0056-3

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  • DOI: https://doi.org/10.1007/s12035-016-0056-3

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