"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.

中文翻译：

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具有新型 PSEN1 p.Leu424Pro 突变的早发性阿尔茨海默病患者

“早老素 1” (PSEN1) 基因突变是早发性阿尔茨海默病的主要已知遗传原因。在此，我们报告了一名土耳其患者的新型杂合 PSEN1 突变（p.Leu424Pro），该患者从 47 岁开始出现短期记忆和视觉空间技能恶化。这种新的突变位于由外显子 12 编码的跨膜结构域 8 的保守残基中。在蛋白质水平上，这种突变导致 PSEN1 的 α 螺旋结构中断。该突变的结构和可能的功能后果表明它可能具有致病作用，这反过来又在我们患者的阿尔茨海默病的发展中发挥了潜在作用。