GAD65抗体相关性小脑性共济失调一例报道及文献复习

A case report of GAD65 antibody related cerebellar ataxia and literature review

目的探讨抗谷氨酸脱羧酶65(glutamic acid decarboxylase,GAD65)抗体相关性小脑性共济失调的临床表现、治疗及预后。方法报道一例抗GAD65抗体相关性小脑性共济失调患者的临床资料,进行诊断、鉴别诊断、治疗及预后分析。结果患者为中老年男性,急性起病,缓慢进展,主要表现为步态不稳并渐出现复视、不能独立行走;神经系统体检发现双眼上视受限、双侧跟膝胫试验及双手轮替试验欠稳准;血清及脑脊液抗GAD65抗体阳性;头颅MRI未见异常萎缩及责任病灶;大剂量甲强龙冲击后症状明显减轻。结论抗GAD65抗体相关性小脑性共济失调可有脑干及小脑受累症状,是一种可以治疗性疾病,早期诊断并积极治疗有望改善预后。

Objective To explore the clinical manifestations,treatment and prognosis of cerebellar ataxia associated with GAD65 antibody.Methods Diagnosis,differential diagnosis,treatment and prognosis were analyzed according to the clinical data of one case of cerebellar ataxia associated with GAD65 antibody.Results The patient was an elderly man with acute onset and slow progression,mainly manifested as unstable walking,progressive diplopia and inability to walk.Neurologic examination found limited upward movement of both eyes,bilateral abnormal heel to shin test and dysdiadochokinesia.Anti-GAD65 was positive both in the serum and cerebrospinal fluid.Brain MRI showed no abnormal atrophy or criminal lesions,symptoms were significantly relieved after methylprednisolone pulse therapy.Conclusions Anti-GAD65 antibody associated cerebellar ataxia may have symptoms of brainstem and cerebellar impairments,it is a treatable disease and early diagnosis and active treatment are expected to improve the prognosis.