Department of Neurology, Strasbourg University Hospital, Strasbourg, France.
Neurodegener Dis. 2010;7(4):260-4. doi: 10.1159/000273591. Epub 2010 Feb 27.
The role of the 43-kDa transactivation-responsive DNA-binding protein (TDP43) in neurodegenerative diseases is not yet clearly established.
To assess for the first time the presence of TDP43 in a patient with motor neuron disease (MND) and Parkinson's disease (PD).
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.
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.
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.
43kDa 转录激活反应性 DNA 结合蛋白（TDP43）在神经退行性疾病中的作用尚不清楚。
首次评估运动神经元病（MND）和帕金森病（PD）患者中 TDP43 的存在情况。
一名 78 岁女性出现对多巴胺反应不良的帕金森病，无认知改变。3 年后出现 MND，并在不到 1 年内导致死亡。进行了神经病理学检查。
我们观察到 PD 和 MND 病变的存在，脊髓和延髓核内有 TDP43 阳性细胞质包涵体，但齿状回和新皮质内没有。MND 表现为延髓和颈段下运动神经元严重退化。还观察到大量的老年斑和局灶性神经原纤维缠结。
PD 和 MND 罕见共存的机制仍不清楚。评估我们病例中 TDP43 的异常反应可能会更深入地了解这两种疾病的病理生理学。需要进一步研究来证实这些发现，并了解 TDP43 在神经退行性疾病中的作用。
