Clinical characteristics of GAD 65-associated autoimmune encephalitis

To examine the clinical characteristics of autoimmune encephalitis associated with the glutamate decarboxylase 65 (GAD 65) antibody.

Medical records of all patients that diagnosed with GAD 65 antibody-associated encephalitis were retrospectively analyzed. Data regarding demographics and symptoms, neurological signs, laboratory and imaging results, treatment and prognosis were collected.

We collected a total of seven patients, mainly young or middle-aged women with a subacute or chronic course. The main clinical symptoms mainly included chronic epilepsy, cerebellar ataxia, stiff-person syndrome, and limbic encephalitis. Three of seven (43%) patients had high CSF (cerebrospinal fluid) protein levels. Oligoclonal IgG bands (including IgG 1) and 24 hours intrathecal synthesis of IgG were detected in CSF and serum in six patients, five patients (83%) reported increased distribution of oligoclonal IgG bands (including IgG 1) and 24 hours intrathecal synthesis of IgG in serum and CSF. And six of seven patients (86%) had abnormal thyroid function or were positive for thyroid antibodies. By electroencephalogram examination, sharp or slow waves in the temporal region were often observed for six of seven patients (86%). Abnormal imaging signals (six of seven patients, 86%) of the temporal lobe and hippocampus were detected by brain magnetic resonance imaging, and decreased metabolism of the temporal lobe was detected by positron emission tomography/computed tomography (six of six patients, 100%). These patients were mainly treated with corticosteroid and gamma globulin. The clinical symptoms of the patients were alleviated.

The course of GAD 65 antibody-associated encephalitis is longer than other autoimmune encephalitides. The clinical symptoms of GAD 65 autoimmune encephalitis mainly manifested as chronic epilepsy, cerebellar ataxia, stiff-person syndrome, and limbic encephalitis, and combined with or without thyroid autoimmune diseases, type 1 diabetes, and thymoma. A comprehensive understanding of the disease is a way to prevent misdiagnosis and delayed treatment.