Wang Yujie, Sadaghiani Mohammad S, Tian Fan, Fitzgerald Kathryn C, Solnes Lilja, Newsome Scott D
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Front Neurol. 2021 Sep 17;12:692240. doi: 10.3389/fneur.2021.692240. eCollection 2021.
To report clinical characteristics and fluorodeoxyglucose positron emission tomography (FDG-PET) findings in the brain and muscles of individuals with stiff person syndrome (SPS) spectrum disorders (SPSSDs). Retrospective cohort study from 1997 to 2018 at Johns Hopkins Hospital identified 170 individuals with SPS or cerebellar ataxia (CA) associated with anti-glutamic acid decarboxylase (anti-GAD)-65 antibodies. Fifty-one underwent FDG-PET, with 50 involving the body and 30 with dedicated brain acquisition. The clinical and immunological profiles were extracted via medical record review. The brain scans were analyzed quantitatively using the NeuroQ software, with comparison with an averaged normal database. The body scans were reviewed qualitatively by a blinded nuclear medicine radiologist. Mean age of symptom onset was 41.5 years (range 12-75 years). Majority were female (68%) and White (64%). Of the patients, 82% had SPS (majority being classic phenotype), and 18% had CA. Three had a paraneoplastic process. Forty-seven had serum anti-GAD, two with anti-amphiphysin, and one with anti-glycine receptor antibodies. Brain metabolic abnormalities were seen in both SPS and CA, with significant differences between the groups noted in the right superior frontal cortex, right sensorimotor cortex, left inferior parietal cortex, bilateral thalami, vermis, and left cerebellum. Of the patients, 62% demonstrated muscle hypermetabolism, most commonly bilateral, involving the upper extremities or axial muscles. Neither brain nor muscle metabolism was correlated with functional outcomes nor treatments. Metabolic changes as seen by FDG-PET are present in the brain and muscle in many individuals with SPSSD. Future studies are needed to assess whether FDG-PET can help aid in the diagnosis and/or monitoring of individuals with SPSSD.
报告僵人综合征（SPS）谱系障碍（SPSSDs）患者大脑和肌肉的临床特征及氟脱氧葡萄糖正电子发射断层扫描（FDG-PET）结果。1997年至2018年在约翰霍普金斯医院进行的一项回顾性队列研究，纳入了170例患有SPS或与抗谷氨酸脱羧酶（抗GAD）-65抗体相关的小脑共济失调（CA）患者。51例患者接受了FDG-PET检查，其中50例包括全身检查，30例进行了专门的脑部扫描。通过病历回顾提取临床和免疫学特征。使用NeuroQ软件对脑部扫描进行定量分析，并与平均正常数据库进行比较。由一位不知情的核医学放射科医生对全身扫描进行定性评估。症状出现的平均年龄为41.5岁（范围12 - 75岁）。大多数为女性（68%），白人（64%）。患者中，82%患有SPS（大多数为经典表型），18%患有CA。3例有副肿瘤性病变。47例有血清抗GAD抗体，2例有抗 amphiphysin抗体，1例有抗甘氨酸受体抗体。SPS和CA患者均出现脑代谢异常，两组在右侧额上回、右侧感觉运动皮层、左侧顶下小叶、双侧丘脑、蚓部和左侧小脑存在显著差异。62%的患者表现出肌肉代谢亢进，最常见为双侧性，累及上肢或轴性肌肉。脑和肌肉代谢均与功能结局及治疗无关。FDG-PET显示的代谢变化在许多SPSSD患者的脑和肌肉中存在。未来需要开展研究以评估FDG-PET是否有助于SPSSD患者的诊断和/或监测。
