在肌萎缩侧索硬化症(ALS)中很少观察到头部脱落综合征(DHS),这种情况的神经病理学发现几乎从未被描述过。反式激活应答DNA结合蛋白43kDa(TDP-43)的鉴定,与RNA/DNA结合为研究ALS和额颞叶变性(FTLD)提供了新的方法。一名患有DHS的71岁患者的成年猝死病例的验尸检查显示,颈索(C4-6)的前运动神经元严重损失。与后根相比,前根的神经纤维损失惊人,伴有明显的神经源性神经萎缩。在贝兹巨细胞的大神经元中发现了布尼娜的尸体,但不是脊髓的运动神经元,或球区域的神经元。在宫颈的残余神经元中检测到磷酸化TDP-43(p-TDP-43)阳性结构,胸绳和木材绳,舌下神经核,小脑齿状核和海马旁皮质,与泛素阳性内含物一起。在杏仁核中发现神经元细胞质中的磷酸化Tau阳性结构,内嗅皮层和海马旁皮层,其中一些共表达p-TDP-43。颈索的内侧区可能是第一个发病部位,这就是ALS早期头部脱落的原因。尽管进行了详细的检查,猝死的直接原因没有得到证实。这份尸检报告揭示了DHS的关系,DHS是ALS的罕见临床表现,和神经病理学发现。
Dropped head syndrome (DHS) has been rarely observed in amyotrophic lateral sclerosis (ALS), and the neuropathological findings of this condition have almost never been described. The identification of transactivation response DNA-binding protein 43 kDa (TDP-43), which binds to RNA/DNA has provided a new method for studying ALS and frontotemporal lobar degeneration (FTLD). Post-mortem examination of an adult sudden death case of a 71-year-old patient who complained of DHS exhibited severe loss of anterior motor neurons in the cervical cord (C4-6). Loss of nerve fibers of the anterior roots was striking compared with posterior roots, together with marked neurogenic atrophy of posterior muscles semispinalis cervicis. Bunina bodies were found in large neurons of Betz giant cells, but not in the motor neurons of spinal cords, or neurons of bulbar regions. Phosphorylated TDP-43 (p-TDP-43)-positive structures were detected in the residual neurons of the cervical, thoracic and lumber cords, hypoglossal nucleus, cerebellar dentate nucleus and parahippocampal cortex, together with ubiquitin-positive inclusions. Phosphorylated Tau positive structures in neuronal cytoplasm were found in the amygdala, entorhinal cortex and parahippocampal cortex, some of which co-expressed p-TDP-43. The medial zone of cervical cords may be the first onset site, and that is the cause of head drop in the early stage of ALS. In spite of detailed examination, the direct cause of sudden death was not verified. This autopsy report revealed the relation of DHS which is a rare clinical manifestation of ALS, and neuropathological findings.