Department of Neurology, Kitasato University, School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0374, Japan.
J Neurol. 2012 Aug;259(8):1566-73. doi: 10.1007/s00415-011-6377-2. Epub 2012 Jan 4.
Glycine receptor (GlyR) antibodies were recently identified in a few patients with progressive encephalomyelitis with rigidity and myoclonus (PERM); none of these patients had antibodies against glutamic acid decarboxylase (GAD). An inhibitory glycinergic transmission defect has also been implicated in the mechanism underlying saccadic oscillations, including ocular flutter or opsoclonus; GlyR antibodies have not been reported in these patients. The purpose was to determine whether GlyR antibodies are found in patients with PERM, ocular flutter syndrome (OFS), and opsoclonus-myoclonus syndrome (OMS). GlyR antibodies were first measured in archived sera and CSF from five patients, including one patient with GAD antibody-positive PERM, two patients with OFS, and two patients with OMS. GlyR antibodies were also measured in archived sera from nine other adult patients with OMS. GlyR antibodies and GAD antibodies were both found at high titers in the serum and CSF of the patient with PERM, and their levels paralleled disease activity over time. GlyR antibodies were not found at significant levels in 13 patients with saccadic oscillations. GlyR and GAD antibodies can co-exist in PERM and follow the clinical course. Although saccadic oscillations are a feature of this condition, GlyR antibodies are not commonly found in patients with isolated saccadic oscillations.
甘氨酸受体 (GlyR) 抗体最近在一些进行性脑脊髓炎伴僵硬和肌阵挛 (PERM) 患者中被发现;这些患者均没有谷氨酸脱羧酶 (GAD) 抗体。眼动性眼球震颤,包括眼阵挛或眼球震颤,其发病机制中也涉及抑制性甘氨酸能传递缺陷;这些患者中尚未报道 GlyR 抗体。目的是确定 GlyR 抗体是否存在于 PERM、眼阵挛综合征 (OFS) 和眼震-肌阵挛综合征 (OMS) 患者中。首先在存档的血清和脑脊液中测量了五名患者的 GlyR 抗体,包括一名 GAD 抗体阳性 PERM 患者、两名 OFS 患者和两名 OMS 患者。还在存档的血清中测量了另外 9 名患有 OMS 的成年患者的 GlyR 抗体。PERM 患者的血清和脑脊液中均发现 GlyR 抗体和 GAD 抗体呈高滴度,其水平随时间推移与疾病活动度平行。在 13 名出现眼动性眼球震颤的患者中未发现有显著水平的 GlyR 抗体。GlyR 和 GAD 抗体可共存于 PERM 中,并遵循临床病程。尽管眼动性眼球震颤是该病症的一个特征,但在孤立性眼动性眼球震颤患者中通常未发现 GlyR 抗体。