Anti-IgLON5 Disease – The Current State of Knowledge and Further Perspectives

Madetko, Natalia; Marzec, Weronika; Kowalska, Agata; Przewodowska, Dominika; Alster, Piotr; Koziorowski, Dariusz

doi:10.3389/fimmu.2022.852215

Cited by 29 publications

(23 citation statements)

References 63 publications

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“…In total, we identified 130 novel synaptic proteins that correlate significantly with vGat and were not previously recognized as synaptic by SynGO. In the vGat core protein module we identified, for example, IgLON5, a cell adhesion protein implicated in a specific anti-IgLON5 neurodegenerative autoimmune disease (Madetko et al 2022).…”

Section: Resultsmentioning

confidence: 99%

The proteomic landscape of synaptic diversity across brain regions and cell types

Oostrum

Blok

Giandomenico

et al. 2023

Preprint

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Brain function relies on communication via neuronal synapses. Neurons build and diversify synaptic contacts using different protein combinations that define the specificity, function and plasticity potential of synapses. More than a thousand proteins have been globally identified in both pre- and postsynaptic compartments, providing substantial potential for synaptic diversity. While there is ample evidence of diverse synaptic structures, states or functional properties, the diversity of the underlying individual synaptic proteomes remains largely unexplored. Here we used 7 different Cre-driver mouse lines crossed with a floxed mouse line in which the presynaptic terminals were fluorescently labeled (SypTOM) to identify the proteomes that underlie synaptic diversity. We combined microdissection of 5 different brain regions with fluorescent-activated synaptosome sorting to isolate and analyze using quantitative mass spectrometry 18 types of synapses and their underlying synaptic proteomes. We discovered ~1800 unique synapse-enriched proteins and allocated thousands of proteins to different types of synapses. We identify commonly shared synaptic protein modules and highlight the hotspots for proteome specialization. A protein-protein correlation network classifies proteins into modules and their association with synaptic traits reveals synaptic protein communities that correlate with either neurotransmitter glutamate or GABA. Finally, we reveal specializations and commonalities of the striatal dopaminergic proteome and outline the proteome diversity of synapses formed by parvalbumin, somatostatin and vasoactive intestinal peptide-expressing cortical interneuron subtypes, highlighting proteome signatures that relate to their functional properties. This study opens the door for molecular systems biology analysis of synapses and provides a framework to integrate proteomic information for synapse subtypes of interest with cellular or circuit-level experiments.

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Section: Resultsmentioning

confidence: 99%

The proteomic landscape of synaptic diversity across brain regions and cell types

Oostrum

Blok

Giandomenico

et al. 2023

Preprint

View full text Add to dashboard Cite

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“…NCAN is a component of neuronal extracellular matrix and is linked to neurite growth 39 . IGLON5 has been implicated in maintenance of blood–brain–barrier integrity and an anti-IGLON5 antibody disease involves the deterioration of cognitive health 40 . Taken together, the protein markers identified in the PheWAS may, therefore, reflect pathways that could be targeted to improve brain health.…”

Section: Discussionmentioning

confidence: 99%

Integrated methylome and phenome study of the circulating proteome reveals markers pertinent to brain health

et al. 2022

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Characterising associations between the methylome, proteome and phenome may provide insight into biological pathways governing brain health. Here, we report an integrated DNA methylation and phenotypic study of the circulating proteome in relation to brain health. Methylome-wide association studies of 4058 plasma proteins are performed (N = 774), identifying 2928 CpG-protein associations after adjustment for multiple testing. These are independent of known genetic protein quantitative trait loci (pQTLs) and common lifestyle effects. Phenome-wide association studies of each protein are then performed in relation to 15 neurological traits (N = 1,065), identifying 405 associations between the levels of 191 proteins and cognitive scores, brain imaging measures or APOE e4 status. We uncover 35 previously unreported DNA methylation signatures for 17 protein markers of brain health. The epigenetic and proteomic markers we identify are pertinent to understanding and stratifying brain health.

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“…Varying effectiveness of therapy is described in the literature, review of 13 patients, discovered only one showed transient improvement of symptoms [ 9 ]. Another, in a case series of 46 patients; 20 responded to immunotherapy; 15 had lasting response to treatment at follow-up [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Combination therapy appears to give best response rates though no consensus exists [ 7 , 10 ]. Initial studies reported that many patients showed no improvement in symptoms with therapy, though recent suggestion is, treatment specifically within the active phase of disease, may increase efficacy of treatment [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Thinking beyond otorhinolaryngology in patients presenting with bilateral vocal cord paresis

Usman¹,

Protts²,

Fathers

et al. 2023

Journal of Surgical Case Reports

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Anti-immunoglobulin-like cell adhesion molecule 5 (IGLON5), a disease first described in 2014 by Sabater et al., is characterised by dysphonia, dysphagia, stridor and dysautonomia. We discuss the case of a patient presenting to the emergency department with anti-IGLON5 associated airway compromise following progressive reduced vocal cord movement requiring a surgical tracheostomy. We discuss the outpatient and emergency presentation of this case along with the available literature on anti-IGLON5. We aim to remind ENT practitioners to look beyond the common diagnoses and consider the diagnosis of anti-IGLON5 disease when faced with the symptoms listed above.

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Anti-IgLON5 Disease – The Current State of Knowledge and Further Perspectives

Cited by 29 publications

References 63 publications

The proteomic landscape of synaptic diversity across brain regions and cell types

The proteomic landscape of synaptic diversity across brain regions and cell types

Integrated methylome and phenome study of the circulating proteome reveals markers pertinent to brain health

Thinking beyond otorhinolaryngology in patients presenting with bilateral vocal cord paresis

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