Pikkarainen Maria, Hartikainen Päivi, Alafuzoff Irina
Department of Clinical Medicine, Unit of Neurology, Section of Neuropathology, Kuopio University Hospital, Kuopio, Finland.
J Neuropathol Exp Neurol. 2008 Apr;67(4):280-98. doi: 10.1097/NEN.0b013e31816a1da2.
Genetic, clinical, and neuropathologic heterogeneity have been observed in frontotemporal lobar degeneration with ubiquitin (Ubq)-positive inclusions (FTLD-U) and FTLD-U with motor neuron disease. Here, the distribution and morphologic features of neuronal and glial inclusions in the brains of 20 FTLD-U and 2 FTLD-U/motor neuron disease cases were assessed using immunohistochemistry for Ubq-binding protein p62. Eighteen cases displayed TAR DNA-binding protein 43-immunoreactive lesions and were classified as Types 3 (neuronal cytoplasmic inclusions and neurites; 72%), 2 (primarily neuronal cytoplasmic inclusions; 17%), or 1 (primarily neurites; 11%) FTLD-U. The distribution of p62-immunoreactivity varied considerably in each type. Of 4 unclassifiable cases, 2 displayed p62-immunoreactive lesions suggestive of FTLD-U with a mutation in the charged multivesicular body protein 2B gene; 1 suggested basophilic inclusion body disease, and 1 was of a type not previously described. By immunohistochemistry for Ubq-binding protein p62, the distribution of abnormalities was wider than expected; in approximately half of the cases, there were p62-positive but TAR DNA-binding protein 43-negative inclusions in the cerebellum, a region not previously considered to be affected. In other regions, TAR DNA-binding protein 43-, Ubq-, and Ubq-binding protein p62 labeling of inclusions was variable. Whether variations in inclusion morphologies, immunoreactivity, and topographic distribution are due to methodologic factors, different stages of inclusion and disease evolution, different disease entities or biologic modifications of the same disease are presently unclear.
在伴有泛素(Ubq)阳性包涵体的额颞叶变性(FTLD-U)以及伴有运动神经元病的FTLD-U中,已观察到遗传、临床和神经病理学异质性。在此,通过对Ubq结合蛋白p62进行免疫组织化学检测,评估了20例FTLD-U和2例FTLD-U/运动神经元病病例大脑中神经元和胶质细胞包涵体的分布及形态特征。18例显示TAR DNA结合蛋白43免疫反应性病变,被分类为3型(神经元胞质包涵体和神经突;72%)、2型(主要为神经元胞质包涵体;17%)或1型(主要为神经突;11%)FTLD-U。p62免疫反应性的分布在每种类型中差异很大。在4例无法分类的病例中,2例显示p62免疫反应性病变,提示为带电多囊泡体蛋白2B基因突变的FTLD-U;1例提示嗜碱性包涵体病,1例为先前未描述的类型。通过对Ubq结合蛋白p62进行免疫组织化学检测,异常分布比预期更广泛;在大约一半的病例中,小脑存在p62阳性但TAR DNA结合蛋白43阴性的包涵体,而小脑此前未被认为会受影响。在其他区域,包涵体的TAR DNA结合蛋白43、Ubq和Ubq结合蛋白p62标记情况各不相同。目前尚不清楚包涵体形态、免疫反应性和拓扑分布的变化是由于方法学因素、包涵体和疾病演变的不同阶段、不同疾病实体还是同一疾病的生物学修饰所致。