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首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Unusual clinical presentation and neuropathology in two subjects with fused-in sarcoma (FUS) positive inclusions.
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Unusual clinical presentation and neuropathology in two subjects with fused-in sarcoma (FUS) positive inclusions.

机译：融合肉瘤（FUS）阳性夹杂物的两个受试者的异常临床表现和神经病理学。

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摘要

We report two unusual autopsy cases with frontotemporal lobar degeneration (FTLD) that were hyperphosphorylated-tau- and TAR DNA binding protein 43 (TDP-43)- negative. The behavioral symptoms in both cases were compatible with frontotemporal dementia, but they exhibited more prominent speech and language related symptoms than previously reported. Moreover, they displayed a short duration of the disease; the male case had a disease onset age of 45 years, and duration of 5 years, and the female case suffered even shorter disease duration and a later onset of the symptoms, at the age of 67 years. Moreover, the motor functions had deteriorated in different ways in these cases. The male patient showed progressive motor symptoms, weakness of extremities and bulbar muscles suggesting motor neuron disease with a muscle biopsy supporting neurogenic deficits, whereas the female patient exhibited dyskinesias and tremor with progressive swallowing disorders. The father of the male case displayed dementia of similar type at the age of 68 years. In both cases, neuropathological examination showed fused-in sarcoma (FUS)-positive pathology. The male patient had intensely FUS-positive cytoplasmic and intranuclear inclusions that resembled the characteristics previously reported in FTLD FUS, whereas the female patient did not exhibit any cytoplasmic inclusions but had roundish, dense FUS-positive intranuclear inclusions. She also displayed a plethora of other pathologies including alpha-synuclein, hyperphosphorylated-tau, beta-amyloid aggregation and some neuronal polyglutamine aggregation (1C2) but no well-demarcated inclusions were observed. We conclude that clinical phenotypes of FUS pathologies also include elderly patients and are more variable with motor and speech disorders than previously reported.
机译：我们报告了额颞叶变性（FTLD）的两个不寻常的尸检病例，它们是高磷酸化的tau-和TAR DNA结合蛋白43（TDP-43）-阴性的。两种情况下的行为症状都与额颞叶痴呆相适应，但是与以前报道的相比，它们表现出更多的与言语和语言有关的症状。而且，它们显示出这种疾病的持续时间很短。男性病例的发病年龄为45岁，病程为5年，女性病例的病程更短，症状发作较晚，年龄为67岁。此外，在这些情况下，电动机功能以不同的方式恶化。男性患者表现出进行性运动症状，四肢无力和延髓肌无力，提示运动神经元病伴肌肉活检支持神经源性缺陷，而女性患者表现出运动障碍和震颤并伴有吞咽障碍。男性病例的父亲在68岁时出现了类似类型的痴呆症。在两种情况下，神经病理学检查均显示融合肉瘤（FUS）阳性病理。男性患者具有强烈的FUS阳性细胞质和核内包裹体，类似于先前在FTLD FUS中报道的特征，而女性患者没有表现出任何细胞质内含物，但具有圆形的致密FUS阳性核内包裹体。她还表现出多种其他病理，包括α-突触核蛋白，高磷酸化-tau蛋白，β-淀粉样蛋白聚集和一些神经元聚谷氨酰胺聚集（1C2），但未观察到界限分明的内含物。我们得出的结论是，FUS病理的临床表型也包括老年患者，并且与先前报道的相比，运动和语言障碍的可变性更大。

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