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伴有谷氨酸脱羧酶自身抗体的眼阵挛-肌阵挛-共济失调综合征

Opsoclonus-myoclonus-ataxia syndrome with autoantibodies to glutamic acid decarboxylase.

作者信息

Markakis Ioannis, Alexiou Eleni, Xifaras Michael, Gekas Georgios, Rombos Antonios

机构信息

Department of Neurology, Piraeus General State Hospital, Nikaia, Greece.

出版信息

Clin Neurol Neurosurg. 2008 Jun;110(6):619-21. doi: 10.1016/j.clineuro.2008.03.005. Epub 2008 Apr 22.

Abstract

Opsoclonus-myoclonus-ataxia syndrome (OMS) is a rare neurological disorder of probably autoimmune origin. Most cases are associated with a remote neoplasm or a viral infection; however in some instances no underlying aetiology can be demonstrated. We report the presence of anti-glutamic acid decarboxylase antibodies (anti-GAD Abs) in the serum and CSF of a patient with idiopathic OMS. Treatment with intravenous immunoglobulin led to a remarkable clinical improvement with parallel reduction of anti-GAD titers. Anti-GAD Abs have been associated with several neurological syndromes. They could also be responsible for the clinical triad of OMS, by impairing GABAergic transmission in specific brainstem and cerebellar circuits. We propose that testing for anti-GAD Abs should be performed in OMS, especially when no other aetiological association can be demonstrated.

摘要

眼阵挛-肌阵挛-共济失调综合征(OMS)是一种可能起源于自身免疫的罕见神经系统疾病。大多数病例与既往肿瘤或病毒感染有关;然而,在某些情况下,无法证实潜在病因。我们报告了一名特发性OMS患者血清和脑脊液中存在抗谷氨酸脱羧酶抗体(抗GAD抗体)。静脉注射免疫球蛋白治疗导致临床显著改善,同时抗GAD滴度降低。抗GAD抗体与多种神经系统综合征有关。它们也可能通过损害特定脑干和小脑回路中的GABA能传递而导致OMS的临床三联征。我们建议对OMS患者进行抗GAD抗体检测,尤其是在无法证实其他病因关联的情况下。

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