GAD65抗体相关性小脑性共济失调(附1例报告及文献复习)

GAD65 Antibody Associated Cerebellar Ataxia:A Case Report and Literature Review

目的探讨谷氨酸脱羧酶65(GAD65)抗体相关性小脑性共济失调患者的临床表现、诊断、治疗及预后,提高临床医生对此疾病的认识。方法报道1例GAD65抗体相关性小脑性共济失调患者的临床资料,结合国内外相关报道进行诊断、治疗及预后分析。结果患者为中年女性,以进行性头晕、视物晃动、行走不稳为主要症状,查体发现垂直下跳性眼震,下视及侧视时加重,闭目难立征睁眼、闭眼均阳性;血清及脑脊液发现GAD65抗体强阳性(1∶100)。头颅磁共振及脑葡萄糖代谢核素扫描均未见明显异常。给予静脉注射丙种球蛋白与糖皮质激素联合治疗后1个月,患者头晕及躯干共济失调明显好转。结论GAD65抗体相关性小脑性共济失调临床表现以眼部及小脑受累症状和体征为主,及时给予免疫治疗可以改善预后,临床医生需注意识别。

Aim To investigate the clinical manifestations,diagnosis,treatment and prognosis of GAD65 antibody-associated cerebellar ataxia,and enhance clinicians’awareness of this disease.Methods The clinical data of a patient with GAD65 antibody-related cerebellar ataxia was reported,and the diagnosis,treatment and prognosis were analyzed in cases reported both in China and abroad.Results The patient was a middle-aged woman,with progressively aggravated dizziness and imbalance as the manifestation.Downbeat nystagmus and Romberg sign were found on physical examination.AntiGAD-65 antibody were positive both in serum and cerebrospinal fluid.Cranial MRI and FDG-PET were normal.After intravenous immunoglobulin combined with hormone therapy,the patient’s dizziness and ataxia improved significantly.Conclusion GAD65 antibody-related cerebellar ataxia is dominated by ocular and cerebellar symptoms,which can be significantly improved after immunotherapy.Early diagnosis and treatment are beneficial to improve prognosis.