Clinical characteristics and prognostic analysis of glutamic acid decarboxylase 65-associated neurological syndromes: A retrospective study from Southwest China.
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OBJECTIVE: To investigate the clinical characteristics, immunotherapeutic responses, and long-term outcomes of glutamic acid decarboxylase-65 (GAD65)-associated neurological syndromes, and to identify potential factors linked to poor outcomes. METHODS: We conducted a retrospective cohort study of patients diagnosed with anti-GAD65-associated neurological syndromes at West China Hospital from August 2019 to March 2024. The clinical characteristics, laboratory and imaging findings, response to immunotherapy and prognosis of the patients were systematically analyzed. RESULTS: 37 patients were included in this study. Predominant clinical phenotypes included epilepsy (Ep) (n = 12, 32.4 %), stiff-person spectrum disorder (SPSD) (n = 8, 21.6 %), limbic encephalitis (LE) (n = 7, 18.9 %), cerebellar ataxia (CA) (n = 3, 8.1 %). Among them, 26 (70.3 %) were female, with a median age of onset at 39 years (IQR 30; range 9-65). Concomitant systemic autoimmune diseases were observed in 10 patients (27.0 %), 15 (40.0 %) were positive for coexisting autoantibodies. Anxiety disorders were documented in 11 patients (29.7 %). 35 patients (94.6 %) received immunotherapy, with symptom remission observed in 30 patients. The follow-up data over a median duration of 16 months (IQR 31.0; range 12.0-67.0), anxiety disorders, elevated cerebrospinal fluid (CSF) protein, delayed treatment and disease relapse are associated with poor outcomes. CONCLUSIONS: Neurological syndromes related to GAD65 antibodies exhibited marked clinical heterogeneity. Although most patients responded to immunotherapy, early intervention was critical for improving outcomes. Anxiety disorders, elevated CSF protein, treatment delay, and disease relapse were associated with adverse prognosis.