普雷西尼林-1 C779T突变呈现出快速进展的痴呆症和中叶MRI变化
Marco Toccaceli Blasi1,2, Maria Sole Borioni1, Filippo Nuti1
1Department of Human Neuroscience, Sapienza University, Rome, Italy.
Case reports in neurological medicine
|November 24, 2025
概括
与PSEN-1突变相关的自体主导阿尔茨海默病 (ADAD) 可以呈现异常. 这一案例突出了由于临床和成像发现的变化,甚至在家庭内,诊断的挑战.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 放射学 放射学是一门学科.
背景情况:
- 自体主导性阿尔茨海默病 (ADAD) 呈现出不同的临床和成像特征.
- 普雷西尼林-1 (PSEN-1) 基因突变是ADAD的常见原因,但也可能出现不典型的呈现.
- 识别罕见的症状对于及时诊断至关重要.
研究的目的:
- 描述患有罕见PSEN-1突变的患者的临床和神经放射学特征.
- 为了突出ADAD中PSEN-1突变的表型变异性.
- 帮助临床医生识别非典型的ADAD病例.
主要方法:
- 一个患有早期发病,迅速进展的痴呆症的患者的病例报告.
- 神经成像 (T2加权的MRI) 显示了中间叶的超强度.
- 基因检测发现了一个PSEN-1 C779T突变.
主要成果:
- 患者表现出快速进展的痴呆症和特定的MRI发现.
- 基因分析证实了PSEN-1 C779T突变.
- 她的兄弟,具有相同的突变,缺乏这些非典型的放射性发现,表明表型变异性.
结论:
- PSEN-1突变可以导致显著的表型变异,甚至在家族内.
- 不典型的ADAD表现,包括特定的MRI模式,可以使诊断复杂化.
- 早期发病的痴呆症与中间叶高强度应促使考虑ADAD和PSEN-1突变测试.
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