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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: Clinicopathologic correlation
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Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: Clinicopathologic correlation

机译：额颞叶变性伴TDP-43蛋白病和染色体9p在C9ORF72中重复扩增：临床病理相关性

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摘要

Mutations in C9ORF72 resulting in expanded hexanucleotide repeats were recently reported to be the underlying genetic abnormality in chromosome 9p-linked frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kD (TDP-43) proteinopathy (FTLD-TDP), amyotrophic lateral sclerosis (ALS), and frontotemporal lobar degeneration with motor neuron disease (FTLD-MND). Several subsequent publications described the neuropathology as being similar to that of FTLD-TDP and ALS without C9ORF72 mutations, except that cases with mutations have p62 and ubiquitin positive, TDP-43 negative inclusions in cerebellum, hippocampus, neocortex, and basal ganglia. The identity of this protein is as yet unknown, and its significance is unclear. With the goal of potentially uncovering the significance of these inclusions, we compared the clinical, pathologic and genetic characteristics in cases with C9ORF72 mutations to those without. We confirmed the apparent specificity of p62 positive, TDP-43 negative inclusions to cases with C9ORF72 mutations. In hippocampus, these inclusions correlated with hippocampal atrophy. No additional correlations were uncovered. However, this is the first report to show that although most cases with C9ORF72 mutations were TDP type B, some of the pathologic characteristics in these cases were more similar to TDP types A and C than to type B cases. These include greater cortical and hippocampal atrophy, greater ventricular dilatation, more neuronal loss and gliosis in temporal lobe and striatum, and TDP-43 positive fine neuritic profiles in the hippocampus, implying that the C9ORF72 mutation modifies the pathologic phenotype of FTLD-TDP type B.
机译：最近报道了C9ORF72的突变导致六核苷酸重复序列的扩增，这是染色体9p连锁的额颞叶变性的潜在遗传异常，伴有TAR DNA结合蛋白的43 kD（TDP-43）蛋白病（FTLD-TDP），肌萎缩性侧索硬化症（ ALS）和额颞叶变性伴运动神经元疾病（FTLD-MND）。随后的几篇出版物描述了神经病理学与没有C9ORF72突变的FTLD-TDP和ALS相似，除了具有突变的病例在小脑，海马，新皮层和基底神经节中具有p62和泛素阳性，TDP-43阴性包涵体。该蛋白的身份尚不清楚，其意义尚不清楚。为了潜在地揭示这些夹杂物的重要性，我们比较了具有C9ORF72突变的病例和没有C9ORF72突变的病例的临床，病理和遗传特征。我们证实p62阳性，TDP-43阴性夹杂物对C9ORF72突变的病例具有明显的特异性。在海马中，这些内含物与海马萎缩相关。没有发现其他相关性。但是，这是第一个显示出尽管具有C9ORF72突变的大多数病例是TDP型B型病例，但这些病例中的某些病理学特征与TDP型A和C型病例相比，与B型病例更为相似。这些包括更大的皮质和海马萎缩，更大的心室扩张，颞叶和纹状体更多的神经元丢失和神经胶质增生，以及海马中TDP-43阳性的精细神经分布，这意味着C9ORF72突变改变了FTLD-TDP B型的病理表型。

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