临床表现 临床表现
Paulo Eduardo Lahoz Fernandez1, Camila Farias de Araujo1, Rairis Barbosa Nascimento1
1Federal University of São Paulo - UNIFESP, São Paulo, SP, Brazil.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 25, 2025
概括
这项研究呈现了一种罕见的阿尔茨海默氏病 (AD) 病例,该病例具有混合的逻辑openic/non-fluent初级渐进性失言症 (PPA) 现型和ANXA11基因突变. 扩散张力通道图 (DTI) 显示了与这种非典型呈现一致的白质变化.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 标记性原发性渐进性失言症 (lvPPA) 是一种非典型的阿尔茨海默氏症 (AD) 呈现.
- 非流利/不流利的PPA (nfvPPA) 通常与前叶退行症 (FTLD) 相关.
- 通常与FTLD/ALS相关的Annexin A11 (ANXA11) 基因突变很少在语义PPA (svPPA) 中报告.
研究的目的:
- 报告非典型AD的独特病例的临床,遗传和成像发现.
- 描述一个具有混合lvPPA/nfvPPA表型和ANXA11基因突变的患者.
主要方法:
- 一个65岁妇女的病例报告,她的语言障碍逐渐恶化.
- 临床评估包括迷你精神状态检查 (MMSE),语义语言流性和波士顿命名测试.
- 对AD生物标志物 (tau,Aβ) 的脑脊液 (CSF) 分析.
- 对ANXA11基因突变进行遗传检测.
- 磁共振成像 (MRI) 和扩散张力通道图 (DTI) 用于白质 (WM) 通道分析.
主要成果:
- 这位患者在8年内出现了词找困难,句子重复问题,命名缺陷,记忆问题,努力的言语和语法障碍.
- 脑脊髓分析显示AD病理 (t-tau/p-tau升高,Aβ 42/40降低).
- 基因测试证实了ANXA11基因突变.
- 核磁共振扫描显示左侧占主导地位的前岛和周边/尾缩.
- DTI揭示了在上纵 (SLF),下纵 (ILF) 和未切割 (UF) 中广泛的左半球WM缩,主要在ILF和SLF中.
结论:
- 这一案例凸显了在非典型的PPA呈现中考虑AD的重要性,即使是混合的表型.
- 它强调了与ANXA11基因突变相关的临床变异性.
- 扩散张力曲谱 (DTI) 对于识别不同PPA亚型中的特定白质 (WM) 模式至关重要.
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