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The many faces of anti-glycine receptor related disease: a case series and literature review
  1. Andrew Swayne1,
  2. Linda Tjoa2,
  3. Richard Wong3,
  4. David Gillis4,
  5. Daniel Schweitzer2,
  6. Benjamin Tsang5,
  7. Andrew McNabb6,
  8. Simon Broadley7,
  9. Stefan Blum1
  1. 1Department of Neurology, Princess Alexandra Hospital, Brisbane, QLD, Australia
  2. 2Department of Neurosciences, Mater Hospital, Brisbane, QLD, Australia
  3. 3Department of Immunology, Princess Alexandra Hospital, Brisbane, QLD, Australia
  4. 4Department of Immunology, Nambour Hospital, Nambour, QLD, Australia
  5. 5Department of Neurology, Nambour Hospital, Nambour, QLD, Australia
  6. 6Department of Neurology, Cairns Base Hospital, Cairns, QLD, Australia
  7. 7Department of Neurology, Gold Coast University Hospital, Gold Coast, QLD, Australia

Abstract

Objectives Neurological disorders linked to antibodies against the glycine receptor were first comprehensibly described in Carvajal-Gonzalez et al’s 2014 case series of 42 patients.1 Of the 42 patients the majority of cases (33) displayed features of Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM). Epilepsy or seizures were present in 4 cases, 2 of which were also associated with PERM. This report aims to broaden the clinical understanding of anti-glycine receptor antibody associated neurological disease by presenting data showing a much stronger association with seizures and epilepsy than previously reported.

Methods Literature review and retrospective analysis of 11 cases of anti-glycine receptor associated neurological disease across multiple neurology centres in Queensland, Australia.

Results Eleven cases were identified, with all cases known to the authors. Of the 11 cases, five had seizures/epilepsy as a prominent part of the presentation whereas two cases displayed features of PERM. A review of the literature revealed 103 cases of anti-glycine receptor antibody positive subjects. Of these 55 had clinical findings consistent with PERM, 36 had seizures/epilepsy and 20 had other neurological conditions. Some patients had more than one of these categories in their presentation.

Conclusions Anti-glycine receptor antibody related neurological disease encompasses a broader clinical spectrum than originally reported with a greater association with epileptic seizures demonstrated both in the case series presented and in a review of the literature.

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