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Progressive encephalomyelitis with rigidity and myoclonus: glycine and NMDA receptor antibodies

M R Turner1, S R Irani, M I Leite

  • 1Oxford University Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.

Neurology
|July 22, 2011
PubMed
Abstract

Insights

This study details a rare, rapidly fatal case of autoimmune encephalomyelitis, presenting with features of progressive encephalomyelitis with rigidity and myoclonus (PERM). The patient had antibodies against both NMDA receptors and glycine receptors, leading to a severe clinical course.

Area of Science:

  • Neuroimmunology
  • Neuropathology

Background:

  • Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disorder.
  • Historically, PERM has been associated with glycine receptor (GlyR) antibodies.

Observation:

  • A previously healthy 28-year-old man presented with a rapidly progressing, fatal form of PERM over two months.
  • Postmortem analysis revealed autoimmune encephalomyelitis with specific neuronal cell involvement.

Findings:

  • Serum antibodies against both NMDA receptors (NMDAR) and glycine receptors (GlyR) were detected.
  • Brain examination showed autoimmune inflammation targeting hippocampal pyramidal and cerebellar Purkinje cells, with relative neocortical sparing.
  • No underlying malignancy was identified.

Implications:

  • This case highlights an unusual co-occurrence of NMDAR and GlyR antibodies in PERM.
  • The combined antibody profile may explain the particularly aggressive disease progression and sudden death observed.
  • This finding expands the understanding of autoimmune encephalitis phenotypes and their associated antibody targets.

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