Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene.
Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene.
复制标题
α 突触核蛋白基因 E46K 突变的有症状和无症状携带者的心脏交感神经去神经支配。
DOI：
10.1016/j.parkreldis.2012.08.001
复制
发表时间：
2013
影响因子：
4.1
通讯作者：
J. Zarranz
中科院分区：
文献类型：
--
作者：
B. Tijero;J. Gómez;E. Lezcano;C. Fernández;J. Sømme;V. Llorens;Ana Martínez;J. Ruiz‐Martinez;N. Foncea;I. Escalza;K. Berganzo;M. Aniel;Verónica Ruiz;Nuria Terán;H. Kaufmann;J. Zarranz
目的分析E46Kα-突触核蛋白基因(SNCA)突变的症状携带者和无症状携带者的自主神经功能和心脏交感神经支配情况。对另外两名没有资格进行自主神经测试的有症状的携带者进行了尸检。患者完成SCOPA自主神经问卷调查，并接受直立倾斜试验，同时测定血浆去甲肾上腺素。进行Valsalva动作和深呼吸试验，并记录交感神经皮肤反应(SSR)和心脏MIBG显像。对2例尸检患者的心肌组织切片进行常规组织学染色和抗酪氨酸羟基酶和α-突触核蛋白单抗的免疫组织化学处理。结果4例有症状携带者和年龄较大的无症状携带者均报告SCPA问卷异常，心肌MIBG摄取明显减少。所有受试者在仰卧位和倾斜位的血浆去甲肾上腺素水平均正常。只有一名患者有明显的直立性低血压。在两例尸检病例的心肌中完全没有酪氨酸羟化酶免疫染色。干预我们发现有症状和无症状的E46Kα-突触核蛋白基因突变携带者的心脏交感神经失神经的影像和组织学证据。交感神经的丧失似乎是器官特有的，在血浆去甲肾上腺素水平和血压正常的情况下，选择性地影响心脏。
OBJECTIVEThe aim of this study was to analyze autonomic function and cardiac sympathetic innervation in symptomatic and asymptomatic carriers of the E46K alpha-synuclein gene (SNCA) mutation.PATIENTS AND METHODSAutonomic function tests were performed in six patients, four of whom were symptomatic carriers (ages: 46, 59, 52 and 28-years) and two who were asymptomatic carriers (ages: 52 and 29 years). Autopsy studies were performed on an additional two symptomatic carriers not eligible for autonomic testing. Patients completed the SCOPA autonomic questionnaire, and underwent the head-up tilt test accompanied by measurements of plasma norepinephrine. Valsalva maneuver and deep breathing tests, along with recording of sympathetic skin response (SSR) and cardiac MIBG scintigraphy were carried out. Myocardial tissue sections removed from the two autopsied cases were subjected to routine histological staining and immunohistochemical processing with monoclonal antibodies against tyrosine hydroxylase and alpha-synuclein.RESULTSBoth the four symptomatic and the older asymptomatic carriers reported abnormalities in the SCOPA questionnaire and had markedly diminished cardiac MIBG uptake. Plasma norepinephrine in the supine and tilted positions was normal in all subjects. Only one patient had significant orthostatic hypotension. There was a complete absence of tyrosine hydroxylase immunostaining in the myocardium of the two autopsied cases.INTERPRETATIONWe have found imaging and histological evidence of cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K alpha-synuclein gene mutation. The sympathetic denervation appears to be organ-specific, with selective affectation of the heart given that plasma norepinephrine levels and blood pressure were normal.
影响因子：
2.9
作者：
Fredenburg, Ross A.;Rospigliosi, Carla;Lansbury, Peter T., Jr.
通讯作者：
Lansbury, Peter T., Jr.