Novel clinical features of glycine receptor antibody syndrome: A series of 17 cases

Neurol Neuroimmunol Neuroinflamm. 2019 Jul 1;6(5):e592. doi: 10.1212/NXI.0000000000000592. eCollection 2019 Sep.

Abstract

Objective: To describe novel clinical features of GlyRα1-IgG-positive patients.

Methods: Patients with a positive serum GlyRα1-IgG were identified during a 2-year period from July 2016 to December 2018 at 2 academic centers and followed prospectively. All patients in this series were evaluated in the Neuroimmunology and Autoimmune Neurology clinics at the University of Utah or the University of Colorado.

Results: Thirteen of 17 patients had phenotypes more typically associated with glutamic acid decarboxylase (GAD65) antibody syndromes, consisting of stiff-person syndrome (SPS) with parkinsonism or cerebellar signs. One patient with parkinsonism had a presentation similar to rapidly progressive multiple system atrophy with severe dysautonomia. Ten of 17 patients had various visual symptoms including visual snow, spider web-like images forming shapes and 3-dimensional images, palinopsia, photophobia, visual hallucinations, synesthesia, and intermittent diplopia. Three of 17 patients presented with primarily autoimmune epilepsy accompanied by psychiatric symptoms.

Conclusions: Clinicians should consider testing for GlyR antibodies in GAD65 antibody-negative or low-positive GAD65 antibody patients with SPS-like presentations, especially in the setting of atypical features such as visual disturbances, parkinsonism, or epilepsy.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Autoantibodies / blood*
  • Female
  • Glutamate Decarboxylase / blood
  • Humans
  • Immunoglobulin G / blood*
  • Male
  • Middle Aged
  • Nuclear Proteins / blood*
  • Oxidoreductases / blood*
  • Parkinson Disease / blood
  • Parkinson Disease / diagnosis
  • Prospective Studies
  • Stiff-Person Syndrome / blood
  • Stiff-Person Syndrome / diagnosis
  • Syndrome
  • Young Adult

Substances

  • Autoantibodies
  • Immunoglobulin G
  • Nuclear Proteins
  • GLYR1 protein, human
  • Oxidoreductases
  • Glutamate Decarboxylase