From the MRC Centre for Neuromuscular Diseases (A.M.R., M.M.R.), Department of Neurodegenerative Disease (Z.J.), Queen Square Brain Bank (Z.J., G.H.), and Dementia Research Centre (M.N.R.), UCL Institute of Neurology; National Hospital for Neurology and Neurosurgery (A.M.R., M.M.R., M.N.R.); and Division of Neuropathology (Z.J.), National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, UK.
Neurology. 2019 Feb 26;92(9):e951-e956. doi: 10.1212/WNL.0000000000007008. Epub 2019 Jan 30.
To describe the histopathologic features of a case of facial-onset sensory and motor neuronopathy (FOSMN).
We describe a postmortem examination performed on a 54-year-old man with FOSMN associated with personality change.
Postmortem examination revealed TAR DNA-binding protein (TDP) 43 proteinopathy with widespread distribution. TDP43 pathology was seen in the neurons and glial cells and was most pronounced in the subthalamic nucleus followed by the spinal cord, including dorsal root ganglia, brainstem, and other deep cerebral nuclei. In the medial temporal lobe, neocortex and subcortical hemispheric white matter TDP43 pathologic inclusions were very rare. In contrast to TDP43 pathologies associated with typical amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD)-TDP, in this case, there were more frequent TDP43-positive oligodendroglial, coiled body-like cytoplasmic inclusions than neuronal inclusions. Neuronal cytoplasmic TDP43 inclusions with globular and skein-like morphology were seen in both anterior horn cells and dorsal root ganglia. No β-amyloid, α-synuclein, or significant hyperphosphorylated tau pathology was seen.
This case provides further evidence that FOSMN is a neurodegenerative disease characterized by TDP43 pathology. Despite minimal cortical TDP43 pathology, the clinical features of the behavioral variant of FTD in this patient suggest that FOSMN may fall within or overlap with the FTD-ALS spectrum.
描述一例面部感觉运动神经元病（FOSMN）的组织病理学特征。
我们描述了一例与人格改变相关的 FOSMN 患者的尸检检查结果。
尸检显示 TAR DNA 结合蛋白（TDP）43 蛋白病呈广泛分布。TDP43 病理学可见于神经元和神经胶质细胞，在丘脑底核最为明显，其次是脊髓，包括背根神经节、脑干和其他深部脑核。在内侧颞叶、新皮质和皮质下半球白质中，TDP43 病理包涵体非常罕见。与典型肌萎缩侧索硬化症（ALS）或额颞叶痴呆（FTD）-TDP 相关的 TDP43 病理学不同，在这种情况下，TDP43 阳性少突胶质细胞、卷曲体样细胞质包涵体比神经元包涵体更常见。前角细胞和背根神经节中可见球状和线样形态的神经元细胞质 TDP43 包涵体。未见β-淀粉样蛋白、α-突触核蛋白或明显过度磷酸化的 tau 病理学。
本病例进一步证明 FOSMN 是一种以 TDP43 病理学为特征的神经退行性疾病。尽管皮质 TDP43 病理学最小，但该患者的行为变异型额颞叶痴呆的临床特征表明，FOSMN 可能属于或与额颞叶痴呆-肌萎缩侧索硬化症谱重叠。
