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Prevalence of the [[HLA-DRB1]]*10:01 [[allele]] was greatly increased in people with anti-IgLON5 disease.<ref name=gaig>{{cite journal |last1=Gaig |first1=Carles |last2=Graus |first2=Francesc |last3=Compta |first3=Yarko |last4=Högl |first4=Birgit |title=Clinical manifestations of the anti-IgLON5 disease |journal=Neurology |date=2 May 2017 |volume=88 |issue=18 |pages=1736–1743 |doi=10.1212/WNL.0000000000003887 |pmid=28381508 |pmc=5409845 |issn=0028-3878}}</ref>
Prevalence of the [[HLA-DRB1]]*10:01 [[allele]] was greatly increased in people with anti-IgLON5 disease.<ref name=gaig>{{cite journal |last1=Gaig |first1=Carles |last2=Graus |first2=Francesc |last3=Compta |first3=Yarko |last4=Högl |first4=Birgit |title=Clinical manifestations of the anti-IgLON5 disease |journal=Neurology |date=2 May 2017 |volume=88 |issue=18 |pages=1736–1743 |doi=10.1212/WNL.0000000000003887 |pmid=28381508 |pmc=5409845 |issn=0028-3878}}</ref>

== Immunology and Pathophysiology ==
The IgLON proteins are a family of cell adhesions molecules, that help somehow in neuronal growth and synaptic development and connections and consist of 5 different protein entities IgLON 1,2,3,4 & 5 and may be helpful in genesis of synapses [[Synaptogenesis|.]]<ref>{{Cite journal|last=Ranaivoson|first=Fanomezana M.|last2=Turk|first2=Liam S.|last3=Ozgul|first3=Sinem|last4=Kakehi|first4=Sumie|last5=von Daake|first5=Sventja|last6=Lopez|first6=Nicole|last7=Trobiani|first7=Laura|last8=De Jaco|first8=Antonella|last9=Denissova|first9=Natalia|last10=Demeler|first10=Borries|last11=Özkan|first11=Engin|date=2019-06|title=A Proteomic Screen of Neuronal Cell-Surface Molecules Reveals IgLONs as Structurally Conserved Interaction Modules at the Synapse|url=https://linkinghub.elsevier.com/retrieve/pii/S0969212619300826|journal=Structure|language=en|volume=27|issue=6|pages=893–906.e9|doi=10.1016/j.str.2019.03.004|pmc=PMC6609445|pmid=30956130}}</ref> and help in brain evolution and maturation to maintain integrity of the [[Blood–brain barrier|blood brain barrier ( BBB)]]<ref>{{Cite journal|last=Kubick|first=Norwin|last2=Brösamle|first2=Desiree|last3=Mickael|first3=Michel-Edwar|date=2018-01|title=Molecular Evolution and Functional Divergence of the IgLON Family|url=http://journals.sagepub.com/doi/10.1177/1176934318775081|journal=Evolutionary Bioinformatics|language=en|volume=14|pages=117693431877508|doi=10.1177/1176934318775081|issn=1176-9343|pmc=PMC5967153|pmid=29844654}}</ref>

Abnormal pTau deposits seen in several brain, brain stem and upper cervical cord shown by nero-immuno-histochemistry studies of brain tissue from these regions without inflammatory cells differentiates this entity from other Autoimmune encephalitis<ref name=":0">{{Cite journal|last=Gelpi|first=Ellen|last2=Höftberger|first2=Romana|last3=Graus|first3=Francesc|last4=Ling|first4=Helen|last5=Holton|first5=Janice L.|last6=Dawson|first6=Timothy|last7=Popovic|first7=Mara|last8=Pretnar-Oblak|first8=Janja|last9=Högl|first9=Birgit|last10=Schmutzhard|first10=Erich|last11=Poewe|first11=Werner|date=2016-10|title=Neuropathological criteria of anti-IgLON5-related tauopathy|url=http://link.springer.com/10.1007/s00401-016-1591-8|journal=Acta Neuropathologica|language=en|volume=132|issue=4|pages=531–543|doi=10.1007/s00401-016-1591-8|issn=0001-6322|pmc=PMC5023728|pmid=27358064}}</ref> <ref>{{Cite journal|last=Sabater|first=Lidia|last2=Gaig|first2=Carles|last3=Gelpi|first3=Ellen|last4=Bataller|first4=Luis|last5=Lewerenz|first5=Jan|last6=Torres-Vega|first6=Estefanía|last7=Contreras|first7=Angeles|last8=Giometto|first8=Bruno|last9=Compta|first9=Yaroslau|last10=Embid|first10=Cristina|last11=Vilaseca|first11=Isabel|date=2014-06|title=A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study|url=https://linkinghub.elsevier.com/retrieve/pii/S1474442214700511|journal=The Lancet Neurology|language=en|volume=13|issue=6|pages=575–586|doi=10.1016/S1474-4422(14)70051-1|pmc=PMC4104022|pmid=24703753}}</ref>

== Treatment and Outcome ==
Anti-IgLON5 disease were mainly treated with immunosuppressants (80%) mostly cycles of IV corticosteroids (58%) in combination with IV immunoglobulins (IVIg−36%) and/or TPE (27%).Alternative second line treatments used succesfully are [[Rituximab]] (22%) and [[Cyclophosphamide]] (12%), [[Azathioprine]] and [[Mycophenolic acid|Mycophenolat Mofetil]]<ref name=":1" /><ref name=":2">{{Cite journal|last=Haitao|first=Ren|last2=Yingmai|first2=Yang|last3=Yan|first3=Huang|last4=Fei|first4=Han|last5=Xia|first5=Lv|last6=Honglin|first6=Hao|last7=Chaiyan|first7=Liu|last8=Stöcker|first8=Winfried|last9=Liying|first9=Cui|last10=Hongzhi|first10=Guan|date=2016-11|title=Chorea and parkinsonism associated with autoantibodies to IgLON5 and responsive to immunotherapy|url=https://linkinghub.elsevier.com/retrieve/pii/S0165572816302831|journal=Journal of Neuroimmunology|language=en|volume=300|pages=9–10|doi=10.1016/j.jneuroim.2016.09.012}}</ref><ref>{{Cite journal|last=Montagna|first=Massimiliano|last2=Amir|first2=Rizvana|last3=De Volder|first3=Ilse|last4=Lammens|first4=Martin|last5=Huyskens|first5=Jef|last6=Willekens|first6=Barbara|date=2018-05-17|title=IgLON5-Associated Encephalitis With Atypical Brain Magnetic Resonance Imaging and Cerebrospinal Fluid Changes|url=http://journal.frontiersin.org/article/10.3389/fneur.2018.00329/full|journal=Frontiers in Neurology|volume=9|pages=329|doi=10.3389/fneur.2018.00329|issn=1664-2295|pmc=PMC5966542|pmid=29867738}}</ref><ref>{{Cite journal|last=Schöberl|first=Florian|last2=Levin|first2=Johannes|last3=Remi|first3=Jan|last4=Goldschagg|first4=Nicolina|last5=Eren|first5=Ozan|last6=Okamura|first6=Nobuyuki|last7=Unterrainer|first7=Marcus|last8=Rominger|first8=Axel|last9=Albert|first9=Nathalie|last10=Brendel|first10=Matthias|date=2018-07-24|title=IgLON5: A case with predominant cerebellar tau deposits and leptomeningeal inflammation|url=http://www.neurology.org/lookup/doi/10.1212/WNL.0000000000005859|journal=Neurology|language=en|volume=91|issue=4|pages=180–182|doi=10.1212/WNL.0000000000005859|issn=0028-3878}}</ref>

Sudden death is the most common outcome in nearly 34 % of patients irrespective of partial response to therapy. while complications from aspiration was the other common cause of death<ref>{{Cite journal|last=Schröder|first=Jens Burchard|last2=Melzer|first2=Nico|last3=Ruck|first3=Tobias|last4=Heidbreder|first4=Anna|last5=Kleffner|first5=Ilka|last6=Dittrich|first6=Ralf|last7=Muhle|first7=Paul|last8=Warnecke|first8=Tobias|last9=Dziewas|first9=Rainer|date=2017-01|title=Isolated dysphagia as initial sign of anti-IgLON5 syndrome|url=http://nn.neurology.org/lookup/doi/10.1212/NXI.0000000000000302|journal=Neurology - Neuroimmunology Neuroinflammation|language=en|volume=4|issue=1|pages=e302|doi=10.1212/NXI.0000000000000302|issn=2332-7812|pmc=PMC5120591|pmid=27900347}}</ref><ref>{{Cite journal|last=Wenninger|first=Stephan|date=2017-11-21|title=Expanding the Clinical Spectrum of IgLON5-Syndrome|url=https://www.medra.org/servlet/aliasResolver?alias=iospress&doi=10.3233/JND-170259|journal=Journal of Neuromuscular Diseases|volume=4|issue=4|pages=337–339|doi=10.3233/JND-170259}}</ref><ref name=":3">{{Cite journal|last=Bahtz|first=Ramona|last2=Teegen|first2=Bianca|last3=Borowski|first3=Kathrin|last4=Probst|first4=Christian|last5=Blöcker|first5=Inga-Madeleine|last6=Fechner|first6=Kai|last7=Parigger|first7=Silvia|last8=Daniel|first8=Gerhard|last9=Brücke|first9=Thomas|last10=Lauenstein|first10=Annesophie|last11=Schrank|first11=Bertold|date=2014-10|title=Autoantibodies against IgLON5: Two new cases|url=https://linkinghub.elsevier.com/retrieve/pii/S0165572814002604|journal=Journal of Neuroimmunology|language=en|volume=275|issue=1-2|pages=8|doi=10.1016/j.jneuroim.2014.08.027}}</ref>

Symptomatic treatment with CPAP in patients with OSA helps improve respiratory symptoms, while parasomnias and movement disorders (myoclonus, parkinsonism, and dystonia) did not respond to antiepileptic, dopaminergic, and anti-hyperkinetic drugs were administered.<ref name=":2" /><ref name=":3" /><ref>{{Cite journal|last=Brüggemann|first=Norbert|last2=Wandinger|first2=Klaus-Peter|last3=Gaig|first3=Carles|last4=Sprenger|first4=Andreas|last5=Junghanns|first5=Klaus|last6=Helmchen|first6=Christoph|last7=Münchau|first7=Alexander|date=2016-05|title=Dystonia, lower limb stiffness, and upward gaze palsy in a patient with IgLON5 antibodies: Dystonia, Lower Limb Stiffness, Palsy, and IgLON5 Antibodies|url=http://doi.wiley.com/10.1002/mds.26608|journal=Movement Disorders|language=en|volume=31|issue=5|pages=762–764|doi=10.1002/mds.26608}}</ref>


== References ==
== References ==

Revision as of 12:40, 22 June 2020

Anti-IgLON5 disease
SpecialtyImmunology

Anti-IgLON5 disease is a neurodegenerative autoimmune disease. It is marked by parasomnias and chorea.[1][2][3][4][5]

IgLON5 is a cell surface adhesion molecule.[6]

Prevalence of the HLA-DRB1*10:01 allele was greatly increased in people with anti-IgLON5 disease.[1]

Immunology and Pathophysiology

The IgLON proteins are a family of cell adhesions molecules, that help somehow in neuronal growth and synaptic development and connections and consist of 5 different protein entities IgLON 1,2,3,4 & 5 and may be helpful in genesis of synapses .[7] and help in brain evolution and maturation to maintain integrity of the blood brain barrier ( BBB)[8]

Abnormal pTau deposits seen in several brain, brain stem and upper cervical cord shown by nero-immuno-histochemistry studies of brain tissue from these regions without inflammatory cells differentiates this entity from other Autoimmune encephalitis[9] [10]

Treatment and Outcome

Anti-IgLON5 disease were mainly treated with immunosuppressants (80%) mostly cycles of IV corticosteroids (58%) in combination with IV immunoglobulins (IVIg−36%) and/or TPE (27%).Alternative second line treatments used succesfully are Rituximab (22%) and Cyclophosphamide (12%), Azathioprine and Mycophenolat Mofetil[11][12][13][14]

Sudden death is the most common outcome in nearly 34 % of patients irrespective of partial response to therapy. while complications from aspiration was the other common cause of death[15][16][17]

Symptomatic treatment with CPAP in patients with OSA helps improve respiratory symptoms, while parasomnias and movement disorders (myoclonus, parkinsonism, and dystonia) did not respond to antiepileptic, dopaminergic, and anti-hyperkinetic drugs were administered.[12][17][18]

References

  1. ^ a b Gaig, Carles; Graus, Francesc; Compta, Yarko; Högl, Birgit (2 May 2017). "Clinical manifestations of the anti-IgLON5 disease". Neurology. 88 (18): 1736–1743. doi:10.1212/WNL.0000000000003887. ISSN 0028-3878. PMC 5409845. PMID 28381508.
  2. ^ Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis (June 2014). "A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study". The Lancet Neurology. 13 (6): 575–586. doi:10.1016/S1474-4422(14)70051-1. PMC 4104022. PMID 24703753.
  3. ^ Honorat, Josephe A.; Komorowski, Lars; Josephs, Keith A.; Fechner, Kai (18 July 2017). "IgLON5 antibody". Neurology: Neuroimmunology & Neuroinflammation. 4 (5): e385. doi:10.1212/NXI.0000000000000385. PMC 5515599. PMID 28761904.
  4. ^ Graus, Francesc; Santamaría, Joan (24 August 2017). "Understanding anti-IgLON5 disease". Neurology: Neuroimmunology & Neuroinflammation. 4 (5): e393. doi:10.1212/NXI.0000000000000393. PMC 5570673. PMID 28852690.
  5. ^ "NEJM Journal Watch: Summaries of and commentary on original medical and scientific articles from key medical journals". www.jwatch.org. Retrieved 16 June 2018.
  6. ^ Database, GeneCards Human Gene. "IGLON5 Gene - GeneCards | IGLO5 Protein | IGLO5 Antibody". www.genecards.org. Retrieved 16 June 2018.
  7. ^ Ranaivoson, Fanomezana M.; Turk, Liam S.; Ozgul, Sinem; Kakehi, Sumie; von Daake, Sventja; Lopez, Nicole; Trobiani, Laura; De Jaco, Antonella; Denissova, Natalia; Demeler, Borries; Özkan, Engin (2019-06). "A Proteomic Screen of Neuronal Cell-Surface Molecules Reveals IgLONs as Structurally Conserved Interaction Modules at the Synapse". Structure. 27 (6): 893–906.e9. doi:10.1016/j.str.2019.03.004. PMC 6609445. PMID 30956130. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  8. ^ Kubick, Norwin; Brösamle, Desiree; Mickael, Michel-Edwar (2018-01). "Molecular Evolution and Functional Divergence of the IgLON Family". Evolutionary Bioinformatics. 14: 117693431877508. doi:10.1177/1176934318775081. ISSN 1176-9343. PMC 5967153. PMID 29844654. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  9. ^ Gelpi, Ellen; Höftberger, Romana; Graus, Francesc; Ling, Helen; Holton, Janice L.; Dawson, Timothy; Popovic, Mara; Pretnar-Oblak, Janja; Högl, Birgit; Schmutzhard, Erich; Poewe, Werner (2016-10). "Neuropathological criteria of anti-IgLON5-related tauopathy". Acta Neuropathologica. 132 (4): 531–543. doi:10.1007/s00401-016-1591-8. ISSN 0001-6322. PMC 5023728. PMID 27358064. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  10. ^ Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel (2014-06). "A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study". The Lancet Neurology. 13 (6): 575–586. doi:10.1016/S1474-4422(14)70051-1. PMC 4104022. PMID 24703753. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  11. ^ Cite error: The named reference :1 was invoked but never defined (see the help page).
  12. ^ a b Haitao, Ren; Yingmai, Yang; Yan, Huang; Fei, Han; Xia, Lv; Honglin, Hao; Chaiyan, Liu; Stöcker, Winfried; Liying, Cui; Hongzhi, Guan (2016-11). "Chorea and parkinsonism associated with autoantibodies to IgLON5 and responsive to immunotherapy". Journal of Neuroimmunology. 300: 9–10. doi:10.1016/j.jneuroim.2016.09.012. {{cite journal}}: Check date values in: |date= (help)
  13. ^ Montagna, Massimiliano; Amir, Rizvana; De Volder, Ilse; Lammens, Martin; Huyskens, Jef; Willekens, Barbara (2018-05-17). "IgLON5-Associated Encephalitis With Atypical Brain Magnetic Resonance Imaging and Cerebrospinal Fluid Changes". Frontiers in Neurology. 9: 329. doi:10.3389/fneur.2018.00329. ISSN 1664-2295. PMC 5966542. PMID 29867738.{{cite journal}}: CS1 maint: PMC format (link) CS1 maint: unflagged free DOI (link)
  14. ^ Schöberl, Florian; Levin, Johannes; Remi, Jan; Goldschagg, Nicolina; Eren, Ozan; Okamura, Nobuyuki; Unterrainer, Marcus; Rominger, Axel; Albert, Nathalie; Brendel, Matthias (2018-07-24). "IgLON5: A case with predominant cerebellar tau deposits and leptomeningeal inflammation". Neurology. 91 (4): 180–182. doi:10.1212/WNL.0000000000005859. ISSN 0028-3878.
  15. ^ Schröder, Jens Burchard; Melzer, Nico; Ruck, Tobias; Heidbreder, Anna; Kleffner, Ilka; Dittrich, Ralf; Muhle, Paul; Warnecke, Tobias; Dziewas, Rainer (2017-01). "Isolated dysphagia as initial sign of anti-IgLON5 syndrome". Neurology - Neuroimmunology Neuroinflammation. 4 (1): e302. doi:10.1212/NXI.0000000000000302. ISSN 2332-7812. PMC 5120591. PMID 27900347. {{cite journal}}: Check date values in: |date= (help)CS1 maint: PMC format (link)
  16. ^ Wenninger, Stephan (2017-11-21). "Expanding the Clinical Spectrum of IgLON5-Syndrome". Journal of Neuromuscular Diseases. 4 (4): 337–339. doi:10.3233/JND-170259.
  17. ^ a b Bahtz, Ramona; Teegen, Bianca; Borowski, Kathrin; Probst, Christian; Blöcker, Inga-Madeleine; Fechner, Kai; Parigger, Silvia; Daniel, Gerhard; Brücke, Thomas; Lauenstein, Annesophie; Schrank, Bertold (2014-10). "Autoantibodies against IgLON5: Two new cases". Journal of Neuroimmunology. 275 (1–2): 8. doi:10.1016/j.jneuroim.2014.08.027. {{cite journal}}: Check date values in: |date= (help)
  18. ^ Brüggemann, Norbert; Wandinger, Klaus-Peter; Gaig, Carles; Sprenger, Andreas; Junghanns, Klaus; Helmchen, Christoph; Münchau, Alexander (2016-05). "Dystonia, lower limb stiffness, and upward gaze palsy in a patient with IgLON5 antibodies: Dystonia, Lower Limb Stiffness, Palsy, and IgLON5 Antibodies". Movement Disorders. 31 (5): 762–764. doi:10.1002/mds.26608. {{cite journal}}: Check date values in: |date= (help)


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