Division of Neuroscience, Institute for Experimental Neurology, San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milan, Italy.
Neurol Sci. 2013 Mar;34(3):313-20. doi: 10.1007/s10072-012-0996-y. Epub 2012 Mar 6.
We tried to identify the target/s of autoantibodies to basal ganglia neurons found in a patient with hyperkinetic movement disorders (HMD) characterized by rapid, rhythmic involuntary movements or spasms in both face and neck. Patient and control sera were used in Western blot to probe mouse brain homogenates. Two-dimensional gel electrophoresis (2-DE) SDS-PAGE protein spots recognized by the patient's antibodies were excised and sequenced by mass spectrometry analysis, and the glycolytic enzyme aldolase A was identified as the antigen recognized by the patient's autoantibodies. To assess relevance and specificity of these antibodies to the identified targets as biomarkers of autoimmunity in movement disorders, autoantibody responses to the identified target were then measured by ELISA in various diseases of the central nervous system. Anti-aldolase A autoantibodies were associated mainly with HMD (7/17, 41%) and Parkinson's disease (4/30, 13%) patients, and undetectable in subjects with other inflammatory and non-inflammatory central nervous system diseases. We, thus, identified aldolase A as an autoantigen in a sub-group of patients with HMD, a clinically ill-defined syndrome. Anti-aldolase A antibodies may represent a useful biomarker of autoimmunity in HMD patients.
我们试图确定在一名以面部和颈部快速、有节奏的不自主运动或痉挛为特征的多动障碍（HMD）患者中发现的基底神经节神经元自身抗体的靶标/抗原。使用患者和对照血清在 Western blot 中探测鼠脑匀浆。通过质谱分析切除和测序患者抗体识别的二维凝胶电泳（2-DE）SDS-PAGE 蛋白斑点，鉴定出糖酵解酶醛缩酶 A 为患者自身抗体识别的抗原。为了评估这些抗体针对所鉴定的靶标作为运动障碍自身免疫生物标志物的相关性和特异性，然后通过 ELISA 在中枢神经系统的各种疾病中测量针对所鉴定的靶标的自身抗体反应。抗醛缩酶 A 自身抗体主要与 HMD（7/17，41%）和帕金森病（4/30，13%）患者相关，而在其他炎症性和非炎症性中枢神经系统疾病患者中无法检测到。因此，我们将醛缩酶 A 鉴定为 HMD 患者亚群中的自身抗原，这是一种临床定义不明确的综合征。抗醛缩酶 A 抗体可能代表 HMD 患者自身免疫的有用生物标志物。
