Abstract：
We report the case of a Japanese woman with sporadic amyotrophic lateral sclerosis (ALS) of 28 months\' duration who died at the age of 66 years. Postmortem examination revealed moderate loss of neurons and phosphorylated TDP-43 (p-TDP-43)-immunoreactive neuronal and glial cytoplasmic inclusions in the upper and lower motor neurons. Additionally, marked neuronal loss was observed in the neostriatum, globus pallidum, subthalamic nucleus, and substantia nigra. p-TDP-43-immunoreactive inclusions were frequently found in these areas. Neuronal loss and TDP-43 pathology in the motor, striatonigral, and pallidoluysian systems were predominant on the right side. Moreover, p-TDP-43-immunoreactive cat\'s-eye-shaped neuronal nuclear inclusions (NNIs) were observed in the affected lesions. NNIs in the striatonigral system were also positive for valosin-containing protein (VCP). We diagnosed the patient as having ALS with striatonigral and pallidoluysian degeneration. Patients with ALS rarely experience pallido-nigro-luysian degeneration. To our best knowledge, only one case of ALS combined with striatonigral and pallidoluysian degeneration has been reported. Neuronal loss in the striatonigral and/or pallidoluysian systems has also been reported in patients with ALS with multisystem degeneration accompanied by long-term use of an artificial respirator. Based on these findings, a possibility of an extremely rare subtype of ALS demonstrating selective loss of neurons in the striatonigral and pallidoluysian systems exists; another possibility is that this type could be an early stage or forme fruste of ALS with multisystem degeneration. Although VCP-positive cat\'s-eye-shaped NNIs have been reported in spinocerebellar ataxia type-2 cases, our case report presents VCP-positive NNIs in a patient with ALS for the first time.
摘要：
我们报告了一例日本女性，患有28个月的散发性肌萎缩性侧索硬化症（ALS），享年66岁。验尸检查显示，上运动神经元和下运动神经元中神经元的中度损失和磷酸化的TDP-43（p-TDP-43）-免疫反应性神经元和神经胶质细胞质内含物。此外,在新纹状体中观察到明显的神经元丢失，苍白球，丘脑底核,和黑质.在这些区域经常发现p-TDP-43免疫反应性包涵体。运动神经元丢失和TDP-43病理，纹状体,和帕利多卢西亚系统在右侧占主导地位。此外，在受影响的病变中观察到p-TDP-43免疫反应性猫眼形神经元核内含物（NNIs）。纹状体系统中的NNIs也对含伐他汀蛋白（VCP）呈阳性。我们诊断该患者患有肌萎缩性侧索硬化症，伴有纹状体和苍白变性。ALS患者很少经历pallido-nigro-luysian变性。据我们所知，仅有1例ALS合并纹状体和pallidoluysian变性。在患有多系统变性并长期使用人工呼吸器的ALS患者中，纹状体和/或pallidoluysian系统的神经元丢失也有报道。基于这些发现,存在一种极其罕见的ALS亚型，表明纹状体和pallidoluysian系统中神经元的选择性丢失；另一种可能性是，这种类型可能是ALS的早期阶段或形成多系统变性。尽管在脊髓小脑共济失调2型病例中已报道了VCP阳性的猫眼形NNIs，我们的病例报告首次在ALS患者中显示VCP阳性NNIs.
