Rakocevic Goran, Raju Raghavan, Semino-Mora Cristina, Dalakas Marinos C
Neuromuscular Diseases Section, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Neurology. 2006 Sep 26;67(6):1068-70. doi: 10.1212/01.wnl.0000237558.83349.d0.
We report five of 38 patients with stiff person syndrome (SPS), who also had cerebellar disease, gait ataxia, dysarthria, and oculomotor dysfunction (SPS-Cer). Cerebellar manifestations either preceded SPS or occurred concurrently. Brain MRI was normal. The intrathecal production of glutamic acid decarboxylase antibodies was elevated. Gamma-aminobutyric acid-enhancing drugs and immunotherapies improved only the stiffness. SPS-Cer is a distinct subset of SPS causing a more severe and complex clinical phenotype.
我们报告了38例僵人综合征(SPS)患者中的5例,他们同时患有小脑疾病、步态共济失调、构音障碍和动眼功能障碍(SPS-小脑型)。小脑表现要么先于SPS出现,要么与SPS同时发生。脑部磁共振成像(MRI)正常。谷氨酸脱羧酶抗体的鞘内生成增加。γ-氨基丁酸增强药物和免疫疗法仅改善了僵硬症状。SPS-小脑型是SPS的一个独特亚组,会导致更严重和复杂的临床表型。