Bayreuther C, Hieronimus S, Ferrari P, Thomas P, Lebrun C
Neurology Department, Pasteur Hospital, 30, voie Romaine, 06002 Nice, France.
Diabetes Metab. 2008 Sep;34(4 Pt 1):386-8. doi: 10.1016/j.diabet.2008.02.002. Epub 2008 Jun 25.
Autoantibodies to glutamic acid decarboxylase (GAD-Ab) have been described in stiff-man syndrome, type 1 diabetes mellitus and in patients with auto-immune polyglandular failure. In addition, a few patients with progressive cerebellar ataxia show high titres of GAD-Ab, suggesting an auto-immune origin.
This is a report of a patient presenting with cerebellar ataxia associated to late-onset type 1 diabetes and polyendocrine auto-immunity.
A 47-year-old woman with a past medical history of vitiligo and Graves' disease presented with late-onset type 1 diabetes. For two years, she had complained of progressive gait instability and oscillopsia. Neurological examination revealed multidirectional, horizontal rotatory fixation and gaze nystagmus, gait ataxia and mild limb ataxia in the left upper arm.
Imaging studies, electrophysiological studies, routine biological and detailed immunological screening as well as a study of cerebrospinal fluid (CSF) were performed.
Brain magnetic resonance imaging showed cerebellar atrophy. Routine biological screening was normal. Immunological screening showed positivity for numerous antibodies (Ab), including GAD-Ab, thyroid peroxidase-Ab, thyroglobulin-Ab, 21-hydroxylase (adrenal)-Ab, gastric parietal cell-Ab and GM1 ganglioside IgG-Ab. CSF was normal, with no oligoclonal bands detected. GAD-Ab were positive in CSF, suggesting an auto-immune origin of the cerebellar ataxia. Treatment with intravenous immunoglobulin led to a slight improvement in nystagmus and gait instability.
Auto-immune cerebellar ataxia related to GAD-Ab is a rare condition that typically affects women with late-onset type 1 diabetes or other auto-immune disorders, including auto-immune polyendocrinopathy. Immunomodulatory treatment may be effective.
在僵人综合征、1型糖尿病以及自身免疫性多腺体功能衰竭患者中已发现谷氨酸脱羧酶自身抗体（GAD - Ab）。此外，一些进行性小脑共济失调患者的GAD - Ab滴度较高，提示其自身免疫起源。
本文报告一例伴有迟发性1型糖尿病和多内分泌自身免疫性疾病的小脑共济失调患者。
一名47岁女性，既往有白癜风和格雷夫斯病病史，出现迟发性1型糖尿病。两年来，她一直抱怨步态逐渐不稳和视振荡。神经系统检查发现多向性、水平旋转性注视和凝视性眼球震颤、步态共济失调以及左上臂轻度肢体共济失调。
进行了影像学检查、电生理检查、常规生物学和详细的免疫学筛查以及脑脊液（CSF）研究。
脑磁共振成像显示小脑萎缩。常规生物学筛查正常。免疫学筛查显示多种抗体（Ab）呈阳性，包括GAD - Ab、甲状腺过氧化物酶 - Ab、甲状腺球蛋白 - Ab、21 - 羟化酶（肾上腺） - Ab、胃壁细胞 - Ab和GM1神经节苷脂IgG - Ab。脑脊液正常，未检测到寡克隆带。脑脊液中GAD - Ab呈阳性，提示小脑共济失调的自身免疫起源。静脉注射免疫球蛋白治疗使眼球震颤和步态不稳略有改善。
与GAD - Ab相关的自身免疫性小脑共济失调是一种罕见疾病，通常影响患有迟发性1型糖尿病或其他自身免疫性疾病（包括自身免疫性多内分泌病）的女性。免疫调节治疗可能有效。
