Movement Disorders and Autonomic Unit, Neurology Service, Cruces University Hospital, Basque Health Service (Osakidetza), Department of Neurosciences, University of the Basque Country, Spain.
Parkinsonism Relat Disord. 2013 Oct;19(10):906-9. doi: 10.1016/j.parkreldis.2013.05.008. Epub 2013 Jun 10.
The aim of this study was to compare autonomic function in PD symptomatic carriers of the LRRK2 mutations and idiopathic Parkinson's disease (iPD) patients.
We studied 25 PD patients: 12 with the LRRK2 mutation (6 G2019S and 6 R1441G), and 13 with iPD. All patients underwent blood pressure and heart rate monitoring during head up tilt, Valsalva maneuver and deep breathing, along with recording of sympathetic skin response (SSR) and cardiac MIBG scintigraphy.
Three of the patients with iPD and one of the LRRK2 carriers had orthostatic hypotension. Arterial pressure "overshoot" during phase IV of Valsalva maneuver was less pronounced in patients with iPD. During passive tilt, LRRK2 carries had higher increase of blood pressure than iPD patients MIBG late myocardial/mediastinal uptake ratios were higher in LRRK2 mutation carriers (1.51 ± 0.28 vs 1.32 ± 0.25; p < 0.05).
Carriers of the LRRK2 mutation had less autonomic impairment than those with iPD as shown by higher cardiac MIBG uptake and a tendency to less impairment of autonomic non-invasive tests. It is important to carry out larger studies comparing the clinical, functional and pathological characteristics of these patients.
本研究旨在比较 LRRK2 突变的 PD 有症状携带者和特发性帕金森病（iPD）患者的自主神经功能。
我们研究了 25 名 PD 患者：12 名携带 LRRK2 突变（6 名 G2019S 和 6 名 R1441G），13 名患有 iPD。所有患者在头高脚低位、瓦尔萨尔瓦动作和深呼吸期间接受血压和心率监测，并记录交感神经皮肤反应（SSR）和心脏 MIBG 闪烁显像。
3 名 iPD 患者和 1 名 LRRK2 携带者出现直立性低血压。iPD 患者在瓦尔萨尔瓦动作第四期的动脉压“过度反射”不那么明显。在被动倾斜时，LRRK2 携带者的血压升高幅度高于 iPD 患者 MIBG 晚期心肌/纵隔摄取比值更高（1.51±0.28 比 1.32±0.25；p<0.05）。
LRRK2 突变携带者的自主神经损伤程度低于 iPD 患者，表现为心脏 MIBG 摄取增加，自主神经非侵入性检查损伤程度降低。对这些患者的临床、功能和病理特征进行更大规模的比较研究非常重要。
