A patient with early-onset Alzheimer's disease with a novel PSEN1 p.Leu424Pro mutation

被引：4

作者：

Guven, Gamze ^{[1
]}

Erginel-Unaltuna, Nihan ^{[1
]}

Samanci, Bedia ^{[2
]}

Gulec, Cagri ^{[3
]}

Hanagasi, Hasmet ^{[2
]}

Bilgic, Basar ^{[2
]}

机构：

[1] Istanbul Univ, Aziz Sancar Inst Expt Med, Dept Genet, Istanbul, Turkey

[2] Istanbul Univ, Dept Neurol, Behav Neurol & Movement Disorders Unit, Istanbul Fac Med, Istanbul, Turkey

[3] Istanbul Univ, Dept Med Genet, Istanbul Fac Med, Istanbul, Turkey

来源：

NEUROBIOLOGY OF AGING | 2019年 / 84卷

关键词：

Early-onset Alzheimer's disease; PSEN1; Novel; L424P; Mutation; PRESENILIN-1; GENE; DIAGNOSIS; DEMENTIA;

D O I：

10.1016/j.neurobiolaging.2019.05.014

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

"Presenilin 1" (PSEN1) gene mutations are the major known genetic cause of early-onset Alzheimer's disease. Herein, we report a novel heterozygous PSEN1 mutation (p.Leu424Pro) in a Turkish patient presenting with deterioration of short-term memory and visuospatial skills starting at the age of 47 years. This novel mutation is located in the conserved residue of transmembrane domain 8 coded by exon 12. At the protein level, this mutation caused a disruption in the alpha helix structure of PSEN1. The structural and possible functional consequences of the mutation suggest that it has probably a pathogenic effect, which in turns had a potential role in the development of Alzheimer's disease in our patient. (C) 2019 Elsevier Inc. All rights reserved.

引用

页码：238.e1 / 238.e4

页数：4

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