Clinical Spectrum and Outcomes of SOX1 Antibody-Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort...

SOX1 antibody-positive paraneoplastic neurological syndromes (PNS) exhibit significant population-specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert-Eaton myasthenic syndrome (65%-80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically limited.

We conducted a single-center retrospective case series analyzing 13 consecutive patients with SOX1 antibody-positive PNS treated at Guangdong Sanjiu Brain Hospital from January 2019 to December 2024. SOX1 antibodies were confirmed using commercial immunoblot assay. Primary endpoints included treatment response (≥ 1-point improvement on modified Rankin Scale [mRS]) and functional recovery (mRS ≤ 2). Statistical analyses employed Fisher's exact tests and Mann-Whitney U tests.

Among 13 patients (median age 61 years [IQR 56-67], 53.8% female), neuropsychiatric presentations predominated, including seizures (46.2%) and psychiatric symptoms (30.8%), with combined neuropsychiatric manifestations occurring in 53.8% of patients. Co-existing neuronal antibodies were identified in 15.4% of cases (GABAB receptor, LGI1). Malignancy was confirmed in 30.8% of patients. Immunotherapy recipients (n = 7) demonstrated significantly superior functional outcomes compared to non-treated patients: median 3-month mRS 0 (IQR 0-0) versus 3 (IQR 3-3), p = 0.03. Treatment response rates were 85.7% versus 33.3% (p = 0.103).

Chinese patients with SOX1 antibody-positive PNS demonstrate a neuropsychiatric-predominant phenotype (53.8%), contrasting markedly with Western cohorts. Early immunotherapy administration was associated with superior functional outcomes (median 3-month mRS: 0 vs. 3, p = 0.03). These findings support comprehensive neuronal antibody profiling and early immunotherapy consideration in patients presenting with neuropsychiatric manifestations.