Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring?
Navnika GuptaAfsaneh ShiraniLakshman Arcot JayagopalEzequiel PiccioneElizabeth HartmanRana Khalil ZabadPublished in: Brain sciences (2022)
Autoantibodies against nodal and paranodal proteins, specifically anti-neurofascin antibodies (ANFAs), have been recently described in central and peripheral nervous system demyelinating disorders. We retrospectively reviewed the charts of six individuals evaluated at our Multiple Sclerosis Program who tested positive for serum ANFAs on Western blot. We describe these patients' clinical and diagnostic findings and attempt to identify features that might guide clinicians in checking for ANFAs. In our series, the women-to-men ratio was 2:1. At presentation, the median age was 60 years (range 30-70). The clinical presentation was pleiotropic and included incomplete transverse myelitis (n = 3), progressive myelopathy ( n = 1), recurrent symmetric polyneuropathy ( n = 1), and nonspecific neurological symptoms ( n = 1). Atypical features prompting further workup included coexisting upper and lower motor neuron features, older age at presentation with active disease, atypical spinal cord MRI features, and unusual cerebrospinal fluid findings. The serum ANFAs panel was positive for the NF-155 isoform in five patients (IgM n = 2; IgG n = 2; both n = 1) and the NF-140 isoform in two (IgG n = 2). Larger studies are needed to assess the relevance of ANFAs in demyelinating nervous system diseases, their impact on long-term clinical outcomes, and associated therapeutic implications.
Keyphrases
- multiple sclerosis
- spinal cord
- end stage renal disease
- white matter
- cerebrospinal fluid
- newly diagnosed
- signaling pathway
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- physical activity
- type diabetes
- oxidative stress
- middle aged
- computed tomography
- immune response
- lps induced
- insulin resistance
- metabolic syndrome
- radiation therapy
- case report
- blood brain barrier
- magnetic resonance
- brain injury
- sleep quality
- toll like receptor
- neoadjuvant chemotherapy
- community dwelling