Gerstmann-Straüssler-Scheinker 病：新型 PRNP 突变和 VGKC 复合物抗体。
Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies.
机构信息
From the Greater Manchester Neurosciences Centre (M.J., D.d.P., D.G.), Salford Royal Foundation Trust, Salford; Manchester Medical School (S.O., D.d.P.), and Institute of Brain, Behaviour and Mental Health (M.J.), University of Manchester; Nuffield Department of Clinical Neurosciences (A.V.), John Radcliffe Hospital, University of Oxford; and National Creutzfeldt-Jakob Disease Research and Surveillance Unit (M.B., M.W.H., J.W.I.), University of Edinburgh, UK.
出版信息
Neurology. 2014 Jun 10;82(23):2107-11. doi: 10.1212/WNL.0000000000000500. Epub 2014 May 9.
OBJECTIVE
To describe a unique case of Gerstmann-Straüssler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltage-gated potassium channel (VGKC)-complex antibodies (Abs).
METHODS
Clinical data were gathered from retrospective review of the case notes. Postmortem neuropathologic examination was performed, and DNA was extracted from frozen brain tissue for full sequence analysis of the PRNP gene.
RESULTS
The patient was diagnosed in life with VGKC-complex Ab-associated encephalitis based on strongly positive VGKC-complex Ab titers but no detectable LGI1 or CASPR2 Abs. He died despite 1 year of aggressive immunosuppressive treatment. The neuropathologic diagnosis was GSS disease, and a novel mutation, P84S, in the PRNP gene was found.
CONCLUSION
VGKC-complex Abs are described in an increasingly broad range of clinical syndromes, including progressive encephalopathies, and may be amenable to treatment with immunosuppression. However, the failure to respond to aggressive immunotherapy warns against VGKC-complex Abs being pathogenic, and their presence does not preclude the possibility of prion disease.
目的
描述一种由新型朊病毒蛋白（PRNP）基因突变引起的独特的格斯特曼-施特劳斯勒-谢因克（GSS）疾病，并伴有强烈阳性电压门控钾通道（VGKC）-复合抗体（Abs）。
方法
通过回顾性病例记录收集临床数据。进行了死后神经病理学检查，并从冷冻脑组织中提取 DNA，用于 PRNP 基因的全长序列分析。
结果
该患者在生前被诊断为 VGKC 复合 Ab 相关脑炎，基于强烈阳性的 VGKC 复合 Ab 滴度，但未检测到 LGI1 或 CASPR2 Abs。尽管接受了 1 年的强化免疫抑制治疗，但他还是死亡了。神经病理学诊断为 GSS 疾病，并在 PRNP 基因中发现了一种新的突变 P84S。
结论
越来越多的临床综合征，包括进行性脑病，描述了 VGKC 复合 Abs 的存在，并且可能对免疫抑制治疗有效。然而，对强化免疫治疗的反应失败表明 VGKC 复合 Abs 不是致病性的，并且它们的存在并不能排除朊病毒病的可能性。
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