Cheng Zhengping, Song Yang, Zhao Shuqi, Sui Xiaowen, Xie Lili, Zhao Hongling, Pan Xin, Cui Li, Huang Xinran, Ma Shubei
Neurology Department, Central Hospital of Dalian University of Technology, Dalian City, 116000, China.
Hematology Department, Central Hospital of Dalian University of Technology, Dalian City, 116000, China.
BMC Neurol. 2025 Jan 20;25(1):27. doi: 10.1186/s12883-025-04037-3.
Autoimmune encephalitis associated with anti-GluK2 antibodies is a recently identified condition, typically characterized by cerebellar ataxia. This case report presents a unique clinical manifestation involving involuntary movements and emotional dysregulation, expanding the known phenotype spectrum.
A 60-year-old woman presented with a two-year history of involuntary movements predominantly affecting her lower limbs and facial muscles, occasionally accompanied by hysterical shouting. Initial investigations revealed coexisting multiple myeloma (MM) and anti-GluK2 antibody positivity. Following MM-specific therapy, including bortezomib, cyclophosphamide, and dexamethasone, the patient's symptoms resolved, and her serum anti-GluK2 antibody titers decreased significantly.
This case suggests that involuntary movements and psychiatric symptoms may represent novel phenotypes of anti-GluK2 antibody-associated autoimmune encephalitis. The findings underscore the importance of recognizing the diverse clinical presentations of this rare condition and prompt further research into its underlying mechanisms.
与抗GluK2抗体相关的自身免疫性脑炎是一种最近才被确认的疾病，其典型特征为小脑共济失调。本病例报告展示了一种涉及不自主运动和情绪失调的独特临床表现，扩展了已知的表型谱。
一名60岁女性，有两年不自主运动病史，主要影响其下肢和面部肌肉，偶尔伴有癔症性喊叫。初步检查发现同时存在多发性骨髓瘤（MM）且抗GluK2抗体呈阳性。在接受包括硼替佐米、环磷酰胺和地塞米松在内的MM特异性治疗后，患者症状消失，血清抗GluK2抗体滴度显著下降。
本病例提示，不自主运动和精神症状可能代表抗GluK2抗体相关自身免疫性脑炎的新表型。这些发现强调了认识这种罕见疾病多样临床表现的重要性，并促使对其潜在机制进行进一步研究。
