Kataria Rachna, Fernandes Sushmitha, Lebastchi Jasmin, Bravo Claudio A, Sena Kanaga N
Conn Med. 2017 Mar;81(3):161-164.
A 24-year-old female who was recently diagnosed with Type 1 diabetes mellitus (TiD) presented with a five-year history of visible gait disturbance and slurred speech. Her neurologic examination was remarkable for dysarthria, bilateral nystagmus, dysdiadochokinesia, finger-nose incoordination, heel-knee incoordination, and ataxic gait. A brain MRI disclosed diffuse cerebellar atrophy. Her serum antiglutamic acid decarboxylase (GAD) antibody titer was elevated. Antinuclear antibody (ANA) test was positive with atiterofl:2560 and a speckledpattern. Genetictests for inherited ataxia, including Friedreich ataxia, were negative for mutations. Her cerebrospinal fluid (CSF) analysis revealed oligoclonal bands and she had a positive CSF GAD65 antibody. A diag- nosis of GAD antibody-induced cerebellar ataxia was considered. She developed GAD autoimmune antibody positive TiD during the course ofher dis- ease. GAD antibody-associated cerebellar ataxia is a rare entity, however it should be considered as a possibility in patients with associated autoimmune disease and positive anti-GAD antibody.
一名24岁女性,近期被诊断为1型糖尿病(T1D),有5年明显步态障碍和言语不清病史。她的神经系统检查显示构音障碍、双侧眼球震颤、轮替运动障碍、指鼻试验不协调、跟膝试验不协调及共济失调步态。脑部磁共振成像(MRI)显示弥漫性小脑萎缩。她的血清抗谷氨酸脱羧酶(GAD)抗体滴度升高。抗核抗体(ANA)检测呈阳性,滴度为1:2560,呈斑点状。包括弗里德赖希共济失调在内的遗传性共济失调基因检测未发现突变。她的脑脊液(CSF)分析显示有寡克隆带,且脑脊液GAD65抗体呈阳性。考虑诊断为GAD抗体诱导的小脑性共济失调。在病程中,她出现了GAD自身免疫抗体阳性的T1D。GAD抗体相关的小脑性共济失调是一种罕见疾病,但在伴有自身免疫性疾病且抗GAD抗体阳性的患者中应考虑这种可能性。