Журнал болезни Альцгеймера и паркинсонизма

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

Yanan Qiao, Dantao Peng*, Miao Jin and Shuang Xue

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 DNAï¼�?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 controlsï¼�?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.