Matsui Naoko, Tanaka Keiko, Kaji Ryuji
Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School.
Brain Nerve. 2018 Apr;70(4):357-362. doi: 10.11477/mf.1416201008.
Stiff-person syndrome (SPS) is a disorder characterized by fluctuating muscle rigidity and painful spasms that occur spontaneously or are triggered by diverse stimuli. Partial or segmental forms of the disorder, such as stiff-limb syndrome (SLS) and a more severe disease called progressive encephalomyelitis with rigidity and myoclonus (PERM), are usually considered within the spectrum of SPS. SPS responds to immunotherapies, and several autoantigens have been identified. Most patients with SPS have a high-titer of antibodies against glutamic acid decarboxylase (GAD), the rate-limiting enzyme for the synthesis of γ-aminobutyric acid (GABA), and up to 15% have antibodies to the glycine receptor α-subunit. This review explains milestones in defining SPS including autoantibodies.
僵人综合征(SPS)是一种以肌肉僵硬波动和疼痛性痉挛为特征的疾病,这些痉挛可自发出现或由多种刺激引发。该疾病的部分或节段性形式,如僵肢综合征(SLS)以及一种称为进行性脑脊髓炎伴僵硬和肌阵挛(PERM)的更严重疾病,通常被认为属于SPS的范畴。SPS对免疫疗法有反应,并且已经鉴定出几种自身抗原。大多数SPS患者具有高滴度的抗谷氨酸脱羧酶(GAD)抗体,GAD是γ-氨基丁酸(GABA)合成的限速酶,高达15%的患者具有抗甘氨酸受体α亚基的抗体。本综述解释了定义SPS(包括自身抗体)的里程碑事件。