MAPT p.E342K 和 p.R406W 突变与具有非典型特征的渐进性超核性麻有关
Negin Badihian1, Farwa Ali1, Hugo Botha1
1Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Parkinsonism & related disorders
|December 22, 2023
概括
在进展性超核麻 (PSP) 病例中发现了新的MAPT突变. 这些突变影响了疾病的表现和TAU PET成像,特别是在中叶区域.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 渐进性超核性麻 (PSP) 是一种神经退行性疾病,其特征是tau蛋白聚合.
- 虽然通常是零星的,但PSP的罕见病例与MAPT基因的突变有关.
研究的目的:
- 在患有PSP-理查德森综合征 (PSP-RS) 的患者中研究新的MAPT突变.
- 为了比较PSP-RS患者具有和没有MAPT突变的临床和神经成像特征.
主要方法:
- 从190名患者的队列中确定了两名具有新型MAPT突变的PSP-RS患者.
- 将突变载体的临床和神经成像数据与20个非突变载体进行比较.
- 使用18F-flortaucipirPET成像来评估tau沉积.
主要成果:
- 在PSP-RS患者中发现了两种新的MAPT突变 (Glu342Lys和Arg406Gln).
- 突变与非典型的PSP特征有关,包括α-synucleinopathy和类似阿尔茨海默氏症的认知缺陷.
- 在突变载体中,在叶中部区域观察到18F-flortaucipir的摄取量增加.
结论:
- MAPT突变Glu342Lys和Arg406Gln改变了PSP-RS的表型.
- 这些突变向中间叶区域,导致增强的记忆丧失和可通过PET检测的沉积增加.
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