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抗塌陷反应介质蛋白5(CV2/CRMP5)和抗谷氨酸脱羧酶(GAD)抗体介导的脑病,酷似非典型帕金森病。

Anti-Collapsin Response Mediator Protein 5(CV2/CRMP5) and Anti-Glutamic Acid Decarboxylase (GAD) Antibodies-Mediated Encephalopathy Mimicking Atypical Parkinsonism.

作者信息

Schirò Giuseppe, Gastaldi Matteo, Iacono Salvatore, Scaranzin Silvia, Picciolo Valentina, Arnao Valentina, Ferrari Anita, Gagliardo Cesare, D'Amelio Marco

机构信息

Department of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), University of Palermo, 90127 Palermo, Italy.

Neuroimmunology Laboratory and Neuroimmunology Research Section, IRCCS Mondino Foundation, Via Mondino 2, 27100 Pavia, Italy.

出版信息

Neurol Int. 2024 Dec 16;16(6):1849-1855. doi: 10.3390/neurolint16060132.

Abstract

: Paraneoplastic neurological syndromes (PNSs) are rare conditions characterized by immune-mediated pathogenesis, frequently associated with the presence of a neoplasm. Although a single antineuronal antibody mediates a specific syndrome, atypical manifestations mediated by the same antibody have been described. : The aim of this study was to report on an atypical case of PNS with dual positivity for anti-GAD65 and anti-CRMP5/CV2 antibodies, simultaneously characterized by cognitive decline associated with progressive ataxia and parkinsonism. We also reviewed the current literature for published cases of PNSs with parkinsonism associated with anti-GAD65 and anti- CRMP5/CV2 antibodies. : A 68-year-old man with an insidious onset of bradykinesia, cognitive decline, and gait instability that began the year before our evaluation had been diagnosed with parkinsonian syndrome. Analysis of the cerebrospinal fluid showed lymphocytic pleocytosis, and a panel for PNS tested positive for anti-GAD65 and anti- CRMP5/CV2 antibodies. After investigation, a microcitoma was found in the lung. : In light of our findings, we suggest considering PNS as an alternative diagnosis to parkinsonism-plus syndromes, in particular if bradykinetic syndrome is accompanied by other clinical manifestations including cognitive decline or ataxia in rapidly deteriorating patients. Earlier detection of PNS would lead to timelier identification of any occult tumors, therein promising improvement in the patient's prognosis.

摘要

副肿瘤性神经系统综合征(PNSs)是罕见疾病,其特征为免疫介导的发病机制,常与肿瘤的存在相关。尽管单一抗神经元抗体介导特定综合征,但由同一抗体介导的非典型表现也有报道。本研究旨在报告一例抗GAD65和抗CRMP5/CV2抗体双阳性的非典型PNS病例,其同时具有与进行性共济失调和帕金森症相关的认知功能减退特征。我们还回顾了当前文献中已发表的伴有帕金森症的抗GAD65和抗CRMP5/CV2抗体相关PNS病例。一名68岁男性,在我们评估前一年开始隐匿出现运动迟缓、认知功能减退和步态不稳,被诊断为帕金森综合征。脑脊液分析显示淋巴细胞增多,PNS检测组抗GAD65和抗CRMP5/CV2抗体呈阳性。经检查,在肺部发现微细胞瘤。根据我们的研究结果,我们建议将PNS作为帕金森叠加综合征的一种替代诊断,特别是如果运动迟缓综合征伴有其他临床表现,包括快速恶化患者的认知功能减退或共济失调。早期发现PNS将有助于更及时地识别任何隐匿性肿瘤,有望改善患者预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3d11/11677969/d6e09c156b74/neurolint-16-00132-g001.jpg

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