Oxford University Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
Neurology. 2011 Aug 2;77(5):439-43. doi: 10.1212/WNL.0b013e318227b176. Epub 2011 Jul 20.
The syndrome of progressive encephalopathy with limb rigidity has been historically termed progressive encephalomyelitis with rigidity and myoclonus (PERM) or stiff-person syndrome plus.
The case is presented of a previously healthy 28-year-old man with a rapidly fatal form of PERM developing over 2 months.
Serum antibodies to both NMDA receptors (NMDAR) and glycine receptors (GlyR) were detected postmortem, and examination of the brain confirmed an autoimmune encephalomyelitis, with particular involvement of hippocampal pyramidal and cerebellar Purkinje cells and relative sparing of the neocortex. No evidence for an underlying systemic neoplasm was found.
This case displayed not only the clinical features of PERM, previously associated with GlyR antibodies, but also some of the features associated with NMDAR antibodies. This unusual combination of antibodies may be responsible for the particularly progressive course and sudden death.
进行性脑病伴四肢僵硬综合征在历史上被称为进行性脑脊髓炎伴僵硬和肌阵挛（PERM）或僵硬人综合征伴发。
介绍了一例此前健康的 28 岁男性，在 2 个月内迅速发展为致命性 PERM 形式。
尸检时检测到抗 NMDA 受体（NMDAR）和甘氨酸受体（GlyR）的血清抗体，大脑检查证实为自身免疫性脑脊髓炎，特别是海马锥体和小脑浦肯野细胞受累，而大脑皮质相对不受累。未发现潜在的系统性肿瘤的证据。
本例不仅表现出与 GlyR 抗体相关的 PERM 的临床特征，还表现出与 NMDAR 抗体相关的一些特征。这种不寻常的抗体组合可能是导致疾病特别进行性进展和突然死亡的原因。
