Arzalluz-Luque Joaquín, Dumez Pauline, Picard Géraldine, Benaiteau Marie, Bonjour Maxime, Lardeux Pierre, Theuriet Julian, Lamblin Florian, Rafiq Marie, Honnorat Jerome, Marignier Romain
French Reference Center for Paraneoplastic Neurological Syndromes and Autoimmune Encephalitis, Hospices Civils de Lyon, Lyon, France.
Centre de Référence des Maladies Inflammatoires Rares du Cerveau et de la Moelle (MIRCEM), Service sclérose en plaques, pathologie de la myeline et neuro-inflammation, Hôpital Neurologique Pierre-Wertheimer, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron Cedex, France.
J Neurol. 2025 May 26;272(6):421. doi: 10.1007/s00415-025-13159-0.
The aim was to describe the clinical course and long-term outcomes of the French cohort of patients with glial fibrillary acidic protein (GFAP) astrocytopathy.
Patients with positive CSF GFAP antibody test were identified between May 2017 and February 2023. Those whose clinical presentation occurred < 2 years before the initiation of the study, with other diagnosis than GFAP astrocytopathy, and with missing clinical information were excluded.
Among the 74 patients included, 71 were alive at last follow-up. The median age at onset was 43 years (range 6-84), 44 patients were male (62%), and 11 (15%) had a neoplasia. The main initial syndrome was meningo-encephalitis (n = 41, 58%). The median follow-up was 28 months (range 1-129). The median mRS at presentation was 4 (range 1-5) and at last follow-up was 1 (range 0-4). Forty patients reported disability at last follow-up (56%). The most frequent sequelae were cognitive complaints (20/40, 50%) and gait disorder (19/40, 48%). 38/55 patients (69%) returned to school/work. Long-term immunoactive treatment was introduced in 40 patients (56%); the most commonly administered were oral corticosteroids (n = 35, 49%). Relapses were documented in 10 patients (14%) and occurred after a median follow-up of 9 months (range 3-46). The presence of concomitant tumor at onset was associated with relapse (HR 4.55, 95% CI 1.28-16.14, p = 0.03).
This study suggests a greater impact than previously described in long-term outcomes of patients with GFAP astrocytopathy and reports concomitant tumor at presentation as a risk factor for relapse.
目的是描述法国胶质纤维酸性蛋白（GFAP）星形细胞病患者队列的临床病程和长期预后。
在2017年5月至2023年2月期间识别脑脊液GFAP抗体检测呈阳性的患者。排除那些在研究开始前不到2年出现临床表现、患有GFAP星形细胞病以外的其他诊断以及临床信息缺失的患者。
在纳入的74例患者中，71例在末次随访时存活。发病时的中位年龄为43岁（范围6 - 84岁），44例患者为男性（62%），11例（15%）患有肿瘤。主要的初始综合征为脑膜脑炎（n = 41，58%）。中位随访时间为28个月（范围1 - 129个月）。就诊时的改良Rankin量表（mRS）中位数为4（范围1 - 5），末次随访时为1（范围0 - 4）。40例患者在末次随访时报告有残疾（56%）。最常见的后遗症是认知障碍（20/40，50%）和步态障碍（19/40，48%）。55例患者中有38例（69%）重返学校/工作。40例患者（56%）接受了长期免疫活性治疗；最常用的是口服皮质类固醇（n = 35，49%）。10例患者（14%）有复发记录，中位随访9个月（范围3 - 46个月）后出现复发。发病时伴有肿瘤与复发相关（风险比4.55，95%置信区间1.28 - 16.14，p = 0.03）。
本研究表明GFAP星形细胞病患者的长期预后影响比先前描述的更大，并报告就诊时伴有肿瘤是复发的危险因素。
