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由TDP-43引起的语音初级渐进性失言症:一个案例报告

Gabriela Meade¹, Jennifer L Whitwell¹, Dennis W Dickson¹

¹From the Departments of Neurology (G.M., J.R.D., H.M.C., J.E.A., K.A.J., R.L.U.), Radiology (J.L.W.), and Psychiatry and Psychology (M.M.M.), Mayo Clinic, Rochester, MN; and the Department of Neuroscience (D.W.D.), Mayo Clinic Jacksonville, FL.

Neurology. Genetics

|March 22, 2024

概括

本案例报告详细介绍了第一例与TAR DNA结合蛋白 43 (TDP-43) 病理相关的初级渐进性言语失语症 (PPAOS),而不是tau. 研究结果表明,TDP-43类型A内含物可以在临床上模仿PPAOS.

科学领域:

神经学神经学
神经科学是一个神经科学.
病理学病理学病理学

背景情况:

主要渐进式言语无力症 (PPAOS) 通常与陶病症有关.
PPAOS的神经病理基础尚未完全理解.
在神经退行性疾病中,TAR DNA 结合蛋白 43 (TDP-43) 蛋白质病变越来越多.

研究的目的:

报告与TDP-43病理相关的PPAOS的第一个病例.
描述这个独特案例中的临床,神经成像和病理发现.
为了阐明PPOS的潜在神经病理生理学.

主要方法:

一个单一的患者病例使用尸体解剖进行了研究.
临床评估包括 3 年的语音,语言,认知和神经学评估.
使用了诸如FDG-PET和tau-PET等神经成像技术.

主要成果:

患者表现为言语的失语,后来发展为语法失语和皮质骨干综合征的特征.
FDG-PET在皮和运动皮层中显示出低代谢.
尸体验证显示TDP-43A型含有在前运动皮层和运动皮层中的非典型分布.

结论:

特别是在非典型分布中,TDP-43 A 类型的内含,可以在临床上表现为PPAOS.
遗传变异 (GRN) 和不对称的大脑参与可能表明不寻常的TDP-43神经病理学.
这一案例扩大了已知的PPAOS临床病理学谱.

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