Marked widespread atrophy of the cerebral cortex and brainstem in sporadic amyotrophic lateral sclerosis in a totally locked-in state
Marked widespread atrophy of the cerebral cortex and brainstem in sporadic amyotrophic lateral sclerosis in a totally locked-in state
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散发性肌萎缩侧索硬化症患者大脑皮层和脑干明显广泛萎缩，处于完全锁定状态
DOI：
10.1136/bcr-2016-218952
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发表时间：
2017
期刊：
影响因子：
0.9
通讯作者：
Shimizu Toshio
中科院分区：
文献类型：
--
作者：
Warabi Yoko;Hayashi Kentaro;Nagao Masahiro;Shimizu Toshio
一名42岁的男子提出了进行性肌肉无力和肌束震颤在他的腿。他被诊断为散发性肌萎缩侧索硬化症（ALS）的基础上，临床和电生理上和下运动神经元功能障碍。尽管未进行详细的认知测试，但患者未出现提示额颞叶痴呆（FTD）的明显认知或行为障碍。当他43岁时，他出现四肢瘫痪和呼吸衰竭，无眼外肌损伤，并接受了气管切开术和有创通气（TIV）。他在43岁时的第一次脑部MRI显示上运动神经元变性和整体离散皮质萎缩的迹象（图1）。在随后的几年里，他使用眼外运动与他人交流，没有表现出任何明显的痴呆症状。当他46岁的时候，他的眼外肌变得没有功能。他完全失去了自主运动功能和交流能力，陷入了所谓的“完全锁定状态”（TLS）。1 TLS发作后1年，47岁时的脑部MRI显示双侧中央前回严重萎缩（图2）。中脑的双侧额叶、前颞叶、壳核和被盖也显示萎缩进展（图2）。53岁时，TIV后10年和TLS发作后7年的脑部MRI显示额叶、颞叶和顶叶皮质叶、基底神经节和脑干进行性明显萎缩（图3）。相比之下，他的枕叶保存得相对较好。散发性ALS通常表现为TDP-43病理，可进展至非常晚期，伴有完全性四肢瘫痪和眼肌麻痹，导致TLS。在TIV治疗的ALS患者中观察到11.4%的TLS。1 TLS中的ALS患者可能表现出严重的、广泛的大脑皮层和脑干受累。2本研究首次使用MRI图像证明TLS中散发性ALS的时间变化。ALS和FTD具有额颞叶变性（FTLD）的共同病理表现。3然而，FTD是一种皮质性痴呆，包括三种典型的临床FTLD综合征，包括FTD、进行性FTLD、进行性FTLD和进行性FTLD。
A man aged 42 years presented with progressive muscle weakness and fasciculation in his legs. He was diagnosed with sporadic amyotrophic lateral sclerosis (ALS) based on clinical and electrophysiological upper and lower motor neuron dysfunction. He presented no obvious cognitive or behavioural impairment indicative of frontotemporal dementia (FTD), although detailed cognitive tests were not performed. When he was 43years old, he presented with tetraplegia and respiratory failure without extraocular muscle impairment and received a tracheostomy with invasive ventilation (TIV). His first brain MRI at age 43 years showed signs of upper motor neuronal degeneration and global discrete cortical atrophy (figure 1). During the ensuing years, he communicated with others using extraocular movements and did not exhibit any symptoms of obvious dementia. When he was 46 years old, his extraocular muscles became nonfunctional. He lost his voluntary motor function and communication ability entirely, falling into the so-called ‘totally locked-in state (TLS)’. 1 A brain MRI at age 47years, 1year after TLS onset, showed severe atrophy of the bilateral precentral gyrus (figure 2). The bilateral frontal lobes, anterior temporal lobes, putamen and tegmentum of the mesencephalon also showed progression of atrophy (figure 2). A brain MRI at age 53 years, 10 years after the TIV and 7 years after TLS onset, showed progressive and marked atrophy in the frontal, temporal and parietal cortical lobes, basal ganglia and brainstem (figure 3). In contrast, his occipital lobe was relatively well preserved. Sporadic ALS, which usually displays TDP-43 pathology, can progress to a very advanced stage with complete quadriplegia and ophthalmoplegia resulting in TLS. TLS is observed in 11.4% of ALS patients on TIV. 1 ALS patients in a TLS may exhibit severe, widespread involvement of the cerebral cortex and brainstem. 2 This study is the first to demonstrate the chronological changes in sporadic ALS in a TLS using MRI images. ALS and FTD share the pathological manifestations of frontotemporal lobar degeneration (FTLD). 3 However, FTD is a form of cortical dementia which comprises three prototypical clinical FTLD syndromes, including FTD, progressive