Multiplex family with GAD65-Abs neurologic syndromes. Issue 1 (January 2018)

• Record Type: Journal Article
• Authors: Belbezier, Aude; Joubert, Bastien; Montero-Martin, Gonzalo; Fernandez-Vina, Marcelo; Fabien, Nicole; Rogemond, Véronique; Mignot, Emmanuel; Honnorat, Jérôme
• Is Part Of: Neurology. Volume 5:Issue 1(2018)
• Publication Date: 2018-01
• Subjects: Neuroimmunology -- Periodicals; Neurology -- Periodicals; 616.8
• DOI: 10.1212/NXI.0000000000000416
• Languages: English
• ISSNs: 2332-7812

Abstract

Abstract : Objective: Neurologic autoimmune syndromes associated with anti–glutamate acid decarboxylase 65 antibodies (GAD65-Abs) are rare and mostly sporadic. Methods: We describe a niece and her aunt with GAD65-Abs neurologic syndromes. High-resolution HLA typing of Class I and Class II alleles was performed using next-generation sequencing. Results: The proband had cerebellar ataxia and probable limbic encephalitis features, whereas her niece had stiff-person syndrome. Both had a high titer of GAD65-Abs in serum and CSF and showed signs of inflammation in CSF. Both affected members carried the same rare recombinant DRB1*15:01:01∼DQA1*01:02:01∼DQB1*05:02:01 haplotype, which may or may not be involved in disease susceptibility. Of interest, other unaffected members of the family either had the same HLA haplotype but normal serum GAD65-Abs or had different HLA types but a high titer of serum GAD65-Abs without neurologic symptoms, suggesting cumulative effects. Conclusions: This unique association strengthens the concept that hereditary factors, possibly including specific HLA haplotypes, play a role in neurologic syndromes associated with GAD65-Abs.