Lebouvier Thibaud, Clairembault Thomas, Devos David, Pallardy Amandine, Coron Emmanuel, Neunlist Michel, Derkinderen Pascal
Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.
Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France.
J Parkinsons Dis. 2014;4(1):29-32. doi: 10.3233/JPD-130333.
The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardiac sympathetic denervation. In the present report, we have studied the involvement of the peripheral autonomic system in a patient with Gaucher disease-associated parkinsonism. Using colonic biopsies and quantitative 123I-MIBG scintigraphy respectively, we show that both Lewy pathology and cardiac denervation were present in this case of Gaucher-associated Parkinsonism. We discuss the consequence of these findings on the pathophysiology of the disease.
在绝大多数散发性帕金森病（PD）患者中，病理过程会影响外周自主神经系统。最近的报告显示，由编码LRRK2和α-突触核蛋白的基因突变引起的家族性形式的该疾病患者也表现出自主神经异常，尤其是心脏交感神经去神经支配。在本报告中，我们研究了一名戈谢病相关帕金森综合征患者外周自主神经系统的受累情况。我们分别使用结肠活检和定量123I-MIBG闪烁扫描，结果显示在该例戈谢病相关帕金森综合征中存在路易体病理改变和心脏去神经支配。我们讨论了这些发现对该疾病病理生理学的影响。
