Presenilin 1 Mutation (A431V) Causing Features of Dementia with Lewy Bodies in a Chinese Family of Alzheimer’s Disease

作者：Yanan Qiao, Dantao Peng, Miao Jin, Shuang Xue · 发表于：Journal of Alzheimer’s Disease & Parkinsonism · 年份：2017 · DOI：10.4172/2161-0460.1000307 · 被引用次数：2 · 研究领域：Alzheimer's disease research and treatments、Cerebrovascular and genetic disorders

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 DNA．PCR-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 controls．Meanwhile 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.