PT  - JOURNAL ARTICLE
AU  - Belbezier, Aude
AU  - Joubert, Bastien
AU  - Montero-Martin, Gonzalo
AU  - Fernandez-Vina, Marcelo
AU  - Fabien, Nicole
AU  - Rogemond, Véronique
AU  - Mignot, Emmanuel
AU  - Honnorat, Jérôme
TI  - Multiplex family with GAD65-Abs neurologic syndromes
AID  - 10.1212/NXI.0000000000000416
DP  - 2018 Jan 01
TA  - Neurology - Neuroimmunology Neuroinflammation
PG  - e416
VI  - 5
IP  - 1
4099  - http://nn.neurology.org/content/5/1/e416.short
4100  - http://nn.neurology.org/content/5/1/e416.full
SO  - Neurol Neuroimmunol Neuroinflamm2018 Jan 01; 5
AB  - 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.GAD=glutamic acid decarboxylase; IgG=immunoglobulin G; SPS=stiff-person syndrome; T1DM=type 1 diabetes mellitus; TG=antithyroglobulin; TPO=antithyroperoxidase