Lima Salvatore Maria, Rini Nicasio, Calì Andrea, Brighina Filippo, Di Stefano Vincenzo
Department of Biomedicine, Neuroscience, and Advanced Diagnostic (BIND), University of Palermo, Via del Vespro 143, 90129, Palermo, Italy.
J Neurol. 2025 Jul 1;272(7):485. doi: 10.1007/s00415-025-13226-6.
Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder characterized by high titers of antibodies against glutamic acid decarboxylase (GAD) and impaired GABAergic inhibitory neurotransmission. If not promptly treated, SPS progresses to disability with high risk of respiratory insufficiency; therefore, it is essential to apply the best therapeutic regimens since the beginning, both in the chronic and in the emergency setting during exacerbations. To date, there are no defined guidelines for the treatment of this rare disease. In this study, we report the case of a woman affected by refractory SPS who benefited from clonidine with immediate resolution of stiffness and SPS crisis.
僵人综合征(SPS)是一种罕见的自身免疫性神经疾病,其特征是谷氨酸脱羧酶(GAD)抗体滴度高以及γ-氨基丁酸(GABA)能抑制性神经传递受损。如果不及时治疗,SPS会发展为残疾,并有呼吸功能不全的高风险;因此,从一开始就在慢性期和病情加重的紧急情况下应用最佳治疗方案至关重要。迄今为止,尚无针对这种罕见疾病的明确治疗指南。在本研究中,我们报告了一例难治性SPS女性患者的病例,该患者受益于可乐定,僵硬症状和SPS危象立即得到缓解。