Clinical Characteristics and Treatment Response in Autoimmune Nodopathies: A Retrospective Review
Fabiola Valenzuela1, Jaya Trivedi2, Mary Vo1
1Neuromuscular, Houston Methodist, 2UT Southwestern Medical Center
Objective:
To characterize the clinical features, diagnostic patterns, and treatment response of autoimmune nodopathies at a neuromuscular tertiary center. The study aims to identify distinguishing features, diagnostic delays, and outcomes to improve early recognition and tailored management.
Background:
Autoimmune nodopathies are immune-mediated neuropathies associated with antibodies against nodal/paranodal proteins (Neurofascin 155/140/186, Contactin-1, Caspr1). They are distinct from CIDP, with unique clinical features, poor IVIG response, and better outcomes with B-cell–targeted therapies. Early diagnosis is key to guiding appropriate treatment and improving outcomes.
Design/Methods:
IRB approval was obtained for a retrospective chart review from 2019 to 2024. Adults with confirmed antibody positivity were identified from a CIDP cohort. Demographics, clinical features, diagnostic delay, and treatment response were collected. Outcomes were assessed using the Medical Research Council (MRC) sum score and Inflammatory Neuropathy Cause and Treatment (INCAT) disability score.
Results:
Of 262 patients initially diagnosed with CIDP, 24 had nodal/paranodal antibodies. Median onset age was 59 years, predominantly male. Common features included asymmetric weakness (75%), distal involvement (54%), ataxia (66.7%), and tremor (16.7%). Dysautonomia, bulbar, and respiratory symptoms were present in 12.5% each; 8.3% had facial involvement. One-third of patients were initially misdiagnosed. Mean time to diagnosis was 30 months.
IVIG was used as first-line in 79% of patients, but 89.5% were refractory. Ten patients received Rituximab, with 70% showing significant improvement. MRC scores increased by a mean of 12 points (42→54), and INCAT decreased by 3.2 points (6→2.8), both exceeding thresholds for clinically meaningful change.
Conclusions:
Autoimmune nodopathies differ from CIDP, with higher rates of ataxia and tremor, limited IVIG response, and notable improvement in strength and disability among patients treated with Rituximab. Early antibody testing may help identify these patients and reduce diagnostic and treatment delays. These findings highlight the importance of tailored management and suggest a role for B-cell–directed therapies in this subgroup.
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