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Hindi Review Article
Presenilin 1 Mutation (A431V) Causing Features of Dementia with Lewy Bodies in a Chinese Family of AlzheimerâÃâ¬Ãâ¢s Disease
Yanan Qiao1, Dantao Peng2*, Miao Jin1 and Shuang Xue21Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, PR China
2Department of Neurology, Center for Geriatric Medicine, China-Japan Friendship Hospital, Beijing 100029, PR China
- Corresponding Author:
- Dantao Peng
Department of Neurology
China-Japan Friendship Hospital
Beijing 100029, PR China
Tel: +8613910908579
E-mail: pengdantao@medmail.com.cn
Received date: February 16, 2017; Accepted date: February 25, 2017; Published date: February 28, 2017
Citation: Qiao Y, Peng D, Jin M, Xue S (2017) Presenilin 1 Mutation (A431V) Causing Features of Dementia with Lewy Bodies in a Chinese Family of Alzheimer’s Disease. J Alzheimers Dis Parkinsonism 7:307. doi:10.4172/2161-0460.1000307
Copyright: © 2017 Qiao Y, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Aim: We reported a family with a presenilin 1 (PSEN1) gene mutation whose clinical manifestations are similar to the Dementia with Lewy bodies. Methods: We collected peripheral blood of the proband, his daughter and 100 normal Chinese individuals and extracted genomic DNAïüÎPCR-sequencing of PSEN1 and microtubule associated protein tau (MAPT) were performed.We also gave them transcranial sonography test (TCS). Results: We found that the proband and his daughter were heterozygous for a mutation 1292nd base in exon 12 of PSEN1, causing the amino acid alanine substituded by valine at codon 431 (A431V), but this was not found in normal controlsïüÎMeanwhile hyperechogenicity of bilateral substantia nigra could be seen in the two patients with the right-left asymmetry index >1.15. Conclusion: This study identified a mutation A431V in the PSEN1 gene in Chinese patients. We considered it might play an important role in familial Alzheimer’s disease leading clinical manifestations similar to DLB.
