Dual ankyrinG and subpial autoantibodies in a man with well-controlled HIV infection with steroid-responsive meningoencephalitis: A case report

Bartley, Christopher M.; Ngo, Thomas T.; Cadwell, Cathryn R.; Harroud, Adil; Schubert, Ryan; Alvarenga, Bonny D.; Hawes, Isobel A.; Zorn, Kelsey C.; Hunyh, Trung; Teliska, Lindsay H; Kung, Andrew F.; Shah, S. M.; Gelfand, Jeffrey M.; Chow, Felicia C; Rasband, Matthew N.; Dubey, Divyanshu; Pittock, Sean J.; DeRisi, Joseph L.; Wilson, Michael R.; Pleasure, Samuel J.

doi:10.3389/fneur.2022.1102484

Cited by 4 publications

(3 citation statements)

References 40 publications

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“…36 As a massively parallel antibody detection method, PhIP-Seq may also aid in identifying autoimmune neurological patients who harbor additional antibodies that may contribute to illness presentation. 37 Moreover, PhIP-Seq has detected autoantibodies that fail to bind rodent brain tissue 35 or novel autoantibodies that do not recognize a rodent ortholog, 38 or for which a rodent ortholog does not exist. 39 However, the sensitivity of PhIP-Seq is hampered by the absence of post- Although PhIP-Seq identified the homologous TRIM9/TRIM67 B-box 2 domains as immunodominant peptide epitopes, not all cases were immunoreactive to this epitope.…”

Section: Discussionmentioning

confidence: 99%

Detection of High‐Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins

Bartley,

Ngo,

et al. 2023

Annals of Neurology

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Co‐occurring anti‐tripartite motif‐containing protein 9 and 67 autoantibodies (TRIM9/67‐IgG) have been reported in only a very few cases of paraneoplastic cerebellar syndrome. The value of these biomarkers and the most sensitive methods of TRIM9/67‐IgG detection are not known. We performed a retrospective, multi‐center study to evaluate the cerebrospinal fluid (CSF) and serum of candidate TRIM9/67‐IgG cases by tissue‐based immunofluorescence (TBIF), peptide phage display immunoprecipitation sequencing (PhIP‐Seq), overexpression cell‐based assay (CBA), and immunoblot. Cases in whom TRIM9/67‐IgG was detected by at least two assays were considered TRIM9/67‐IgG positive. Among these cases (N=13), CBA was the most sensitive (100%) and revealed that all cases had TRIM9 and TRIM67 autoantibodies. Of TRIM9/67‐IgG cases with available clinical history, a subacute cerebellar syndrome was the most common presentation (N = 7/10), followed by encephalitis (N = 3/10). Of these ten, 70% had comorbid cancer (7/10), 85% of whom (N = 6/7) had confirmed metastatic disease. All evaluable cancer biopsies expressed TRIM9 protein (N = 5/5), whose expression was elevated in the cancerous regions of the tissue in 4 of 5 cases. TRIM9/67‐IgG are rare but likely high‐risk paraneoplastic biomarkers for which CBA appears to be the most sensitive diagnostic assay.This article is protected by copyright. All rights reserved.

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Section: Discussionmentioning

confidence: 99%

Detection of High‐Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins

Bartley,

Ngo,

et al. 2023

Annals of Neurology

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“…Both patients had an adenocarcinoma and a progressive CNS syndrome [25 ▪ ]. Lastly, antibodies targeting AnkyrinG were reported in two patients, one with HIV and steroid responsive encephalopathy and the other with ovarian cancer and seizures [26 ▪ ].…”

Section: Recent Updates In Rare Antibody Discoverymentioning

confidence: 99%

Interest of rare autoantibodies in autoimmune encephalitis and paraneoplastic neurological syndromes: the utility (or futility) of rare antibody discovery

Segal,

Zekeridou

2024

Current Opinion in Neurology

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Purpose of review The increasing recognition and diagnosis of autoimmune encephalitis (AE) and paraneoplastic neurological syndromes (PNS) is partly due to neural autoantibody testing and discovery. The past two decades witnessed an exponential growth in the number of identified neural antibodies. This review aims to summarize recent rare antibody discoveries in the context of central nervous system (CNS) autoimmunity and evaluate the ongoing debate about their utility. Recent findings In the last 5 years alone 15 novel neural autoantibody specificities were identified. These include rare neural antibody biomarkers of autoimmune encephalitis, cerebellar ataxia or other movement disorders, including multifocal presentations. Summary Although the clinical applications of these rare antibody discoveries may be limited by the low number of positive cases, they still provide important diagnostic, prognostic, and therapeutic insights.

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“…AnkyrinG autoantibodies have been identified in some people affected by viral infections or suffering from cancer. AnkyrinG autoantibodies have been identified in AIS, nodes of Ranvier, and the subpial space in a patient living with human immunodeficiency virus (HIV) suffering steroid-responsive meningoencephalitis [ 124 ] and in a patient with a diagnosis of metastatic ovarian cancer and seizures [ 124 ]. Autoantibodies to Lgi1 are characteristic of limbic encephalitis [ 125 ].…”

Section: Axon Initial Segment Mental Disorders and Neurodegenerative ...mentioning

confidence: 99%

Contribution of Axon Initial Segment Structure and Channels to Brain Pathology

Garrido

2023

Cells

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Brain channelopathies are a group of neurological disorders that result from genetic mutations affecting ion channels in the brain. Ion channels are specialized proteins that play a crucial role in the electrical activity of nerve cells by controlling the flow of ions such as sodium, potassium, and calcium. When these channels are not functioning properly, they can cause a wide range of neurological symptoms such as seizures, movement disorders, and cognitive impairment. In this context, the axon initial segment (AIS) is the site of action potential initiation in most neurons. This region is characterized by a high density of voltage-gated sodium channels (VGSCs), which are responsible for the rapid depolarization that occurs when the neuron is stimulated. The AIS is also enriched in other ion channels, such as potassium channels, that play a role in shaping the action potential waveform and determining the firing frequency of the neuron. In addition to ion channels, the AIS contains a complex cytoskeletal structure that helps to anchor the channels in place and regulate their function. Therefore, alterations in this complex structure of ion channels, scaffold proteins, and specialized cytoskeleton may also cause brain channelopathies not necessarily associated with ion channel mutations. This review will focus on how the AISs structure, plasticity, and composition alterations may generate changes in action potentials and neuronal dysfunction leading to brain diseases. AIS function alterations may be the consequence of voltage-gated ion channel mutations, but also may be due to ligand-activated channels and receptors and AIS structural and membrane proteins that support the function of voltage-gated ion channels.

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Dual ankyrinG and subpial autoantibodies in a man with well-controlled HIV infection with steroid-responsive meningoencephalitis: A case report

Cited by 4 publications

References 40 publications

Detection of High‐Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins

Detection of High‐Risk Paraneoplastic Antibodies against TRIM9 and TRIM67 Proteins

Interest of rare autoantibodies in autoimmune encephalitis and paraneoplastic neurological syndromes: the utility (or futility) of rare antibody discovery

Contribution of Axon Initial Segment Structure and Channels to Brain Pathology

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