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Abstract Details

Not All Functional: Two Cases Highlighting the Role of Anti-Glutamic Acid Decarboxylase Antibody (GAD) 65 Antibodies in Patients Presenting with Symptoms Localizing to the CNS
Autoimmune Neurology
P1 - Poster Session 1 (12:00 PM-1:00 PM)
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Present two cases of cerebellar disease due to anti-GAD65 antibodies. Both patients presented with symptoms localizable to the cerebellum by vestibular testing when bedside exam could otherwise be misdiagnosed as functional. One patient received early vestibular testing for nystagmus while the other had symptoms for about 4 years before diagnosis and progressed to epilepsy. This highlights the importance of considering anti-GAD65 disease in workup for ataxia and dizziness.  

Anti-GAD65 antibody neurologic disease is rare but relatively understood autoimmune disease. The pathogenicity of the antibody is debated and clinical correlation is paramount. Several neurological syndromes are well associated to GAD65 antibodies including stiff-person syndrome, cerebellar ataxia and epilepsy. Patients with rare diseases receive 3 diagnoses and see 5 physicians prior to correct diagnosis (4).

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Case 1: 54 yo woman who presented with diplopia, nystagmus, vertigo and nausea ten years prior to her first seizure. Vestibular testing conducted 4 years after symptom onset demonstrated CNS involvement. Ataxia workup revealed significant anti-GAD 65 antibodies. Immunosuppression was initiated with symptom plateau, then progression to generalized paresthesias suggestive of psychogenic non-epileptic spells with generalized tonic–clonic movements.  EEG monitoring revealed non-convulsive status epilepticus.  

Case 2: 36 yo woman with prior left CN III palsy presented with progressive disequilibrium. Her initial workup included vestibular testing demonstrating central nystagmus with otherwise subtle cerebellar exam. Ataxia workup was conducted which revealed significant anti-GAD56 antibodies. She was then treated with IVIG with improvement in her disequilibrium.  

Both patients exhibit a neurologic syndrome well-associated with anti-GAD65 antibodies. They also presented with symptoms that could have been misdiagnosed as functional. Knowledge of these syndromes and workup for anti-GAD65 is crucial to detecting immune-mediated disease and timely treatment. Early vestibular testing can detect CNS patterns of nystagmus, especially if other signs of ataxia are subtle to subsequently inform appropriate testing for GAD65.

Authors/Disclosures
Hannah Harrison, MD, MBA
PRESENTER
Dr. Harrison has nothing to disclose.
Brielle M. Smith, MD Dr. Smith has nothing to disclose.
Gina S. Perez-Giraldo, MD Dr. Perez-Giraldo has received personal compensation for serving as an employee of TG therapeutics. Dr. Perez-Giraldo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG therapeutics.