Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring?
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...
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MDPI AG
2022-08-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/12/9/1124 |
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| author | Navnika Gupta Afsaneh Shirani Lakshman Arcot Jayagopal Ezequiel Piccione Elizabeth Hartman Rana Khalil Zabad |
| author_facet | Navnika Gupta Afsaneh Shirani Lakshman Arcot Jayagopal Ezequiel Piccione Elizabeth Hartman Rana Khalil Zabad |
| author_sort | Navnika Gupta |
| collection | DOAJ |
| description | 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 <i>(n</i> = 3), progressive myelopathy (<i>n</i> = 1), recurrent symmetric polyneuropathy (<i>n</i> = 1), and nonspecific neurological symptoms (<i>n</i> = 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 <i>n</i> = 2; IgG <i>n</i> = 2; both <i>n</i> = 1) and the NF-140 isoform in two (IgG <i>n</i> = 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. |
| first_indexed | 2024-03-10T00:34:22Z |
| format | Article |
| id | doaj.art-54e8875ca1f0485682c36860bc62dbe9 |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-10T00:34:22Z |
| publishDate | 2022-08-01 |
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| series | Brain Sciences |
| spelling | doaj.art-54e8875ca1f0485682c36860bc62dbe92023-11-23T15:19:34ZengMDPI AGBrain Sciences2076-34252022-08-01129112410.3390/brainsci12091124Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring?Navnika Gupta0Afsaneh Shirani1Lakshman Arcot Jayagopal2Ezequiel Piccione3Elizabeth Hartman4Rana Khalil Zabad5Department of Neurological Sciences, University of Nebraska Medical Center, 988440 Nebraska Medical Center, Omaha, NE 68198, USADepartment of Neurological Sciences, University of Nebraska Medical Center, 988440 Nebraska Medical Center, Omaha, NE 68198, USADepartment of Neurological Sciences, University of Nebraska Medical Center, 988440 Nebraska Medical Center, Omaha, NE 68198, USADepartment of Neurological Sciences, University of Nebraska Medical Center, 988440 Nebraska Medical Center, Omaha, NE 68198, USADepartment of Neurological Sciences, University of Nebraska Medical Center, 988440 Nebraska Medical Center, Omaha, NE 68198, USADepartment of Neurological Sciences, University of Nebraska Medical Center, 988440 Nebraska Medical Center, Omaha, NE 68198, USAAutoantibodies 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 <i>(n</i> = 3), progressive myelopathy (<i>n</i> = 1), recurrent symmetric polyneuropathy (<i>n</i> = 1), and nonspecific neurological symptoms (<i>n</i> = 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 <i>n</i> = 2; IgG <i>n</i> = 2; both <i>n</i> = 1) and the NF-140 isoform in two (IgG <i>n</i> = 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.https://www.mdpi.com/2076-3425/12/9/1124anti-neurofascin antibodiesnodes of Ranvierparanodesdemyelinating diseasescombined central and peripheral demyelinationmultiple sclerosis |
| spellingShingle | Navnika Gupta Afsaneh Shirani Lakshman Arcot Jayagopal Ezequiel Piccione Elizabeth Hartman Rana Khalil Zabad Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring? Brain Sciences anti-neurofascin antibodies nodes of Ranvier paranodes demyelinating diseases combined central and peripheral demyelination multiple sclerosis |
| title | Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring? |
| title_full | Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring? |
| title_fullStr | Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring? |
| title_full_unstemmed | Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring? |
| title_short | Anti-Neurofascin Antibodies Associated with White Matter Diseases of the Central Nervous System: A Red Flag or a Red Herring? |
| title_sort | anti neurofascin antibodies associated with white matter diseases of the central nervous system a red flag or a red herring |
| topic | anti-neurofascin antibodies nodes of Ranvier paranodes demyelinating diseases combined central and peripheral demyelination multiple sclerosis |
| url | https://www.mdpi.com/2076-3425/12/9/1124 |
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