PSEN2突变可能模仿前性痴呆症:两份新病例报告和一项审查
Anxo Manuel Minguillón Pereiro1, Beatriz Quintáns Castro2,3, Alberto Ouro Villasante4,5
1Servicio de Neurología, Hospital Clínico Universitario Santiago de Compostela, Travesía de Choupana, 15706 Santiago de Compostela, Spain.
Biomedicines
|August 29, 2024
概括
普雷西尼林2 (PSEN2) 基因突变是阿尔茨海默病 (AD) 的罕见原因,可以出现类似于前性痴呆症的症状和显著的白质超强度. 如果怀疑患有前性痴呆症,建议对PSEN2进行基因检测.
科学领域:
- 神经遗传学 神经遗传学
- 神经退行性疾病 神经退行性疾病
- 分子生物学分子生物学
背景情况:
- 单一性阿尔茨海默氏病 (AD) 是罕见的,其最罕见的形式是Presenilin 2 (PSEN2) 基因突变.
- 研究PSEN2-AD不寻常的临床和神经成像表现有助于理解其病理生理学和半理学.
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