Saiz A, Arias M, Fernández-Barreiro A, Mínguez A, Casamitjana R, Tolosa E, Graus F
Departamento de Medicina, Laboratorio Hormonal, Hospital Clínic i Provincial, Universidad de Barcelona.
Med Clin (Barc). 1998 Mar 21;110(10):378-81.
Stiff-man syndrome (SMS) is a rare neurological disorder characterized by progressive rigidity of the axial musculature with superimposed spasms. Frequently, SMS remains undiagnosed for prolonged periods or the patients are diagnosed of a primary psychiatric disorder. 60% of the SMS patients harbor GAD-autoantibodies (GAD-Ab). We have analyzed the diagnostic value of GAD-Ab in a syndrome whose clinical expression is not well known, but its diagnosis is performed by clinical criteria. Five patients were studied following the established clinical criteria for diagnosis of SMS. GAD-Ab were analyzed by radioimmunoassay (RIA) and immunohistochemistry, and confirmed by immunoblot. The GAD-Ab titers were compared with those of 49 patients with insulin-dependent diabetes mellitus (IDDM), 322 with other neurological disorders, 14 non-IDDM first-degree relatives of IDDM patients with antibodies anti-islet cells and 91 normal subjects. Three patients fulfilled all clinical criteria (typical SMS). Unilateral limb symptoms alone, and acute onset with rapid progression involving the distal limb muscles constituted the atypical features of SMS in the remaining 2 patients. The 5 patients presented several serum organ-specific autoantibodies. All but one also presented autoimmune diseases. By RIA, GAD-Ab titers from all patients were elevated (mean: 24,532 +/- 26,892 U/ml) and significantly higher than the titers of IDDM patients without neurological disorders (mean: 48 +/- 112 U/ml) (p < 0.0001). GAD-Ab were absent in the non-SMS patients and in normal subjects. These findings suggest that clinical expression of SMS is more extensive than that recognized by the established criteria. GAD-Ab are helpful to define the clinical spectrum of SMS.
僵人综合征（SMS）是一种罕见的神经系统疾病，其特征为轴性肌肉组织进行性僵硬并伴有叠加性痉挛。通常，SMS在很长一段时间内未被诊断出来，或者患者被诊断为原发性精神障碍。60%的SMS患者存在谷氨酸脱羧酶自身抗体（GAD-Ab）。我们分析了GAD-Ab在一种临床表现尚不明确但通过临床标准进行诊断的综合征中的诊断价值。按照既定的SMS诊断临床标准对5例患者进行了研究。通过放射免疫分析（RIA）和免疫组织化学分析GAD-Ab，并通过免疫印迹法进行确认。将GAD-Ab滴度与49例胰岛素依赖型糖尿病（IDDM）患者、322例其他神经系统疾病患者、14例有抗胰岛细胞抗体的IDDM患者的非IDDM一级亲属以及91名正常受试者的滴度进行比较。3例患者符合所有临床标准（典型SMS）。仅单侧肢体症状以及累及远端肢体肌肉的急性起病且进展迅速构成了其余2例患者SMS的非典型特征。这5例患者均出现了几种血清器官特异性自身抗体。除1例患者外，其余患者还均患有自身免疫性疾病。通过RIA检测，所有患者的GAD-Ab滴度均升高（平均值：24,532 +/- 26,892 U/ml），且显著高于无神经系统疾病的IDDM患者的滴度（平均值：48 +/- 112 U/ml）（p < 0.0001）。非SMS患者和正常受试者中未检测到GAD-Ab。这些发现表明，SMS的临床表现比既定标准所认识到的更为广泛。GAD-Ab有助于明确SMS的临床谱。
