TDP43-Positive Intraneuronal Inclusions in a Patient with Motor Neuron Disease and Parkinson's Disease
TDP43-Positive Intraneuronal Inclusions in a Patient with Motor Neuron Disease and Parkinson's Disease
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DOI：
10.1159/000273591
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发表时间：
2010-01-01
影响因子：
3
通讯作者：
Kiesmann, Michele
中科院分区：
文献类型：
--
作者：
Chanson, Jean-Baptiste;Echaniz-Laguna, Andoni;Kiesmann, Michele
背景资料：43-kDa的反式激活反应DNA结合蛋白（TDP 43）在神经退行性疾病中的作用尚未明确。目的：首次评估运动神经元病（MND）和帕金森病（PD）患者中TDP 43的存在。方法：一位78岁的女性发展为多巴反应不良的帕金森综合征，无认知功能改变。三年后，MND出现，并在不到一年的时间内导致死亡。进行神经病理学检查。结果如下：我们观察到PD和MND病变的存在与TDP 43阳性细胞质内含物在脊髓和延髓核，但不是在齿状回和新皮质。MND的特点是延髓和颈部下运动神经元严重变性。还观察到大量老年斑和局部局限性神经纤维缠结。结论：PD和MND罕见并存的机制尚不清楚。在我们的病例中，对TDP 43异常反应性的评估可能会更深入地了解这两种疾病相关的病理生理学。需要进一步的研究来证实这些发现，并了解TDP 43在神经退行性疾病中的作用。版权所有（C）2010 S. Karger AG，巴塞尔
Background: The role of the 43-kDa transactivation-responsive DNA-binding protein (TDP43) in neurodegenerative diseases is not yet clearly established. Objective: To assess for the first time the presence of TDP43 in a patient with motor neuron disease (MND) and Parkinson's disease (PD). Methods: A 78-year-old woman developed poorly dopa-responsive parkinsonism without cognitive alteration. Three years later, MND appeared and led to death in less than a year. Neuropathologic examination was performed. Results: We observed the presence of PD and MND lesions with TDP43-positive cytoplasmic inclusions in the spinal cord and bulbar nuclei but not in the dentate gyrus and neocortex. The MND was characterized by a severe degeneration of bulbar and cervical lower motor neurons. Numerous senile plaques and topographically limited neurofibrillary tangles were also observed. Conclusion: The mechanisms underlying the rare co-occurrence of PD and MND are still unclear. The assessment of an abnormal reactivity for TDP43 in our case might gain more insight into the pathophysiology of this association of two diseases. Further studies are needed to confirm these findings and to understand the role of TDP43 in neurodegenerative diseases. Copyright (C) 2010 S. Karger AG, Basel