Glycine receptor autoimmune spectrum with stiff-man syndrome phenotype.

Abstract

OBJECTIVES:

To determine whether glycine receptor α1 subunit-specific autoantibodies (GlyRα1-IgG) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity.

DESIGN:

Retrospective, case-control study.

SETTINGS:

Mayo Clinic, Rochester, Minnesota, and University of Barcelona, Spain.

PATIENTS:

Eighty-one patients with stiff-man syndrome phenotype, 80 neurologic control subjects, and 20 healthy control subjects.

INTERVENTION:

Glycine receptor α1-transfected cells to test serum or cerebrospinal fluid from cases and control subjects.

MAIN OUTCOME MEASURES:

Frequency of GlyRα1-IgG positivity among stiff-man syndrome phenotype cases and control subjects. Comparison of GlyRα1-IgG seropositive and seronegative cases.

RESULTS:

Seropositive cases (12% of cases) included 9 with stiff-man syndrome (4 classic; 5 variant; 66% were glutamic acid decarboxylase 65-IgG positive) and 1 with progressive encephalomyelitis with rigidity and myoclonus. Immunotherapy responses were noted more frequently in GlyRα1-IgG-positive cases (6 of 7 improved) than in seronegative cases (7 of 25 improved; P= .02). The single seropositive control patient had steroid-responsive vision loss and optic atrophy with inflammatory cerebrospinal fluid.

CONCLUSIONS:

Glycine receptor α1-IgG aids identification of autoimmune brainstem/spinal cord hyperexcitability disorders and may extend to the glycinergic visual system.

• Authors: Andrew McKeon, Eugenia Martinez-Hernandez, Eric Lancaster, Joseph Y Matsumoto, Robert J Harvey, Kathleen M McEvoy, Sean J Pittock, Vanda A Lennon, Josep Dalmau
• Journal: JAMA neurology (JAMA Neurol) Vol. 70 Issue 1 Pg. 44-50 (Jan 2013) ISSN: 2168-6157 [Electronic] United States
• PMID: 23090334 (Publication Type: Case Reports, Comparative Study, Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Autoantibodies
• Protein Subunits
• Receptors, Glycine

Topics

• Adolescent
• Adult
• Age of Onset
• Aged
• Autoantibodies (biosynthesis, genetics)
• Brain Stem (immunology, metabolism, pathology)
• Case-Control Studies
• Child, Preschool
• Female
• HEK293 Cells
• Humans
• Male
• Middle Aged
• Phenotype
• Protein Subunits (genetics, immunology)
• Receptors, Glycine (blood, genetics, immunology)
• Retrospective Studies
• Stiff-Person Syndrome (genetics, immunology)