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首页> 外文期刊>BMC Neurology >FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases
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FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

机译：FTLD-TDP伴有运动神经元疾病，视觉空间障碍和进行性核上性麻痹样综合征：拓宽了TDP-43蛋白病的临床表型。一篇三个案例的报告

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Background Frontotemporal lobar degeneration with ubiquitin and TDP-43 positive neuronal inclusions represents a novel entity (FTLD-TDP) that may be associated with motor neuron disease (FTLD-MND); involvement of extrapyramidal and other systems has also been reported. Case presentation We present three cases with similar clinical symptoms, including Parkinsonism, supranuclear gaze palsy, visuospatial impairment and a behavioral variant of frontotemporal dementia, associated with either clinically possible or definite MND. Neuropathological examination revealed hallmarks of FTLD-TDP with major involvement of subcortical and, in particular, mesencephalic structures. These cases differed in onset and progression of clinical manifestations as well as distribution of histopathological changes in the brain and spinal cord. Two cases were sporadic, whereas the third case had a pathological variation in the progranulin gene 102 delC. Conclusions Association of a "progressive supranuclear palsy-like" syndrome with marked visuospatial impairment, motor neuron disease and early behavioral disturbances may represent a clinically distinct phenotype of FTLD-TDP. Our observations further support the concept that TDP-43 proteinopathies represent a spectrum of disorders, where preferential localization of pathogenetic inclusions and neuronal cell loss defines clinical phenotypes ranging from frontotemporal dementia with or without motor neuron disease, to corticobasal syndrome and to a progressive supranuclear palsy-like syndrome.
机译：背景额叶颞叶变性与泛素和TDP-43阳性神经元包涵体代表了可能与运动神经元疾病（FTLD-MND）相关的新实体（FTLD-TDP）。还报道了锥体外系和其他系统的参与。病例介绍我们介绍了三例具有相似临床症状的病例，包括帕金森病，核上凝视麻痹，视觉空间障碍和额颞叶痴呆的行为变异，与临床上可能或确定的MND相关。神经病理学检查显示FTLD-TDP的标志主要涉及皮层下结构，尤其是中脑结构。这些病例在临床表现的发作和进展以及脑和脊髓中组织病理学变化的分布方面有所不同。其中有2例为散发性病例，而第3例在前颗粒蛋白基因102 delC中存在病理变异。结论伴有明显的视觉空间损伤，运动神经元疾病和早期行为障碍的“进行性核上性麻痹”综合征可能是FTLD-TDP的临床独特表型。我们的观察结果进一步支持了TDP-43蛋白病代表一系列疾病的概念，其中病原性包涵体和神经元细胞丢失的优先定位定义了临床表型，包括额颞痴呆伴或不伴运动神经元疾病，皮质基底膜综合症和进行性核上性麻痹样综合征。

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