Department of Neurological Sciences, Second University of Naples, Piazza Miraglia 2, 80138 Naples, Italy.
Neural Plast. 2012;2012:473538. doi: 10.1155/2012/473538. Epub 2012 Jun 10.
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease principally affecting motor neurons. Besides motor symptoms, a subset of patients develop cognitive disturbances or even frontotemporal dementia (FTD), indicating that ALS may also involve extramotor brain regions. Both neuropathological and neuroimaging findings have provided further insight on the widespread effect of the neurodegeneration on brain connectivity and the underlying neurobiology of motor neurons degeneration. However, associated effects on motor and extramotor brain networks are largely unknown. Particularly, neuropathological findings suggest that ALS not only affects the frontotemporal network but rather is part of a wide clinicopathological spectrum of brain disorders known as TAR-DNA binding protein 43 (TDP-43) proteinopathies. This paper reviews the current state of knowledge concerning the neuropsychological and neuropathological sequelae of TDP-43 proteinopathies, with special focus on the neuroimaging findings associated with cognitive change in ALS.
肌萎缩侧索硬化症（ALS）是一种严重的神经退行性疾病，主要影响运动神经元。除了运动症状外，一部分患者还会出现认知障碍，甚至额颞叶痴呆（FTD），这表明 ALS 可能还涉及运动外的脑区。神经病理学和神经影像学的发现为神经退行性变对脑连接的广泛影响以及运动神经元退行性变的潜在神经生物学提供了进一步的认识。然而，对运动和运动外脑网络的相关影响在很大程度上仍不清楚。特别是，神经病理学发现表明 ALS 不仅影响额颞叶网络，而是作为一种被称为 TAR-DNA 结合蛋白 43（TDP-43）蛋白病的广泛临床病理谱的一部分。本文综述了目前关于 TDP-43 蛋白病的神经心理学和神经病理学后果的知识状况，特别关注与 ALS 认知变化相关的神经影像学发现。
