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Antiglycine-receptor encephalomyelitis with rigidity.

Natalia Mas1, Albert Saiz, Maria Isabel Leite

  • 1Service of Neurology, Hospital Clínic and Institut d' Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

Journal of Neurology, Neurosurgery, and Psychiatry
|December 15, 2010
PubMed
Summary
This summary is machine-generated.

Glycine receptor antibodies (GlyR-ab) are associated with a broader spectrum of neurological disorders than previously thought. Testing for GlyR-ab is recommended for patients presenting with muscle rigidity and spasms not typical of stiff-person syndrome (SPS).

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Area of Science:

  • Neuroimmunology
  • Neurology
  • Autoimmune Encephalitis

Background:

  • Glycine receptor antibodies (GlyR-ab) have been previously identified in patients with progressive encephalomyelitis with rigidity and myoclonus (PERM).
  • This study investigates additional patients with GlyR-ab to further delineate the clinical spectrum associated with these antibodies.

Observation:

  • Three patients with GlyR-ab presented with diverse neurological symptoms including diplopia, dysphagia, gait ataxia, facial palsy, trigeminal hypoaesthesia, and autonomic dysfunction.
  • Clinical manifestations ranged from stiff-person syndrome (SPS) and stiff limb syndrome to severe encephalopathy with seizures and cardiac arrest.
  • One patient experienced behavioral changes, emotional irritability, and sensory disturbances preceding motor symptoms.

Findings:

  • GlyR-ab were detected using a cell-based assay involving HEK293 cells transfected with the GlyR α1 subunit.
  • The clinical presentations in these patients extended beyond the classical PERM, encompassing features overlapping with SPS and other autoimmune neurological disorders.
  • Treatment responses varied, with corticosteroids and intravenous immunoglobulins (IVIG) showing partial or complete symptom resolution in some cases.

Implications:

  • The clinical spectrum associated with GlyR-ab is broader than the classical view of PERM, suggesting GlyR-ab as a potential biomarker for a wider range of autoimmune neurological conditions.
  • GlyR-ab testing should be considered in patients presenting with core symptoms of muscle rigidity and spasms, especially when the presentation is atypical for SPS.
  • Early identification and targeted immunotherapy may improve outcomes for patients with GlyR-ab associated neurological disorders.