Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy

  1. Gelpi, Ellen ORCID logo
  2. Reinecke, Raphael
  3. Gaig, Carles
  4. Iranzo, Alex
  5. Sabater, Lidia
  6. Molina-Porcel, Laura
  7. Aldecoa, Iban
  8. Endmayr, Verena
  9. Högl, Birgit
  10. Schmutzhard, Erich
  11. Poewe, Werner
  12. Pfausler, Bettina
  13. Popovic, Mara
  14. Pretnar-Oblak, Janja
  15. Leypoldt, Frank
  16. Matschke, Jakob
  17. Glatzel, Markus
  18. Erro, Elena Maria
  19. Jerico, Ivonne
  20. Caballero, Maria Cristina
  21. Zelaya, Maria Victoria
  22. Mariotto, Sara
  23. Heidbreder, Anna
  24. Kalev, Ognian
  25. Weis, Serge
  26. Macher, Stefan
  27. Berger-Sieczkowski, Evelyn
  28. Ferrari, Julia
  29. Reisinger, Christoph
  30. Klupp, Nikolaus
  31. Tienari, Pentti
  32. Rautila, Osma
  33. Niemelä, Marja
  34. Yilmazer-Hanke, Deniz
  35. Guasp, Mar
  36. Bloem, Bas
  37. Van Gaalen, Judith
  38. Kusters, Benno
  39. Titulaer, Maarten
  40. Fransen, Nina L.
  41. Santamaria, Joan
  42. Dawson, Thimoty
  43. Holton, Janice L.
  44. Ling, Helen
  45. Revesz, Tamas
  46. Myllykangas, Liisa
  47. Budka, Herbert
  48. Kovacs, Gabor G.
  49. Lewerenz, Jan
  50. Dalmau, Josep
  51. Graus, Francesc
  52. Koneczny, Inga
  53. Höftberger, Romana

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1000 Titel
  • Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy
1000 Autor/in
  1. Gelpi, Ellen |
  2. Reinecke, Raphael |
  3. Gaig, Carles |
  4. Iranzo, Alex |
  5. Sabater, Lidia |
  6. Molina-Porcel, Laura |
  7. Aldecoa, Iban |
  8. Endmayr, Verena |
  9. Högl, Birgit |
  10. Schmutzhard, Erich |
  11. Poewe, Werner |
  12. Pfausler, Bettina |
  13. Popovic, Mara |
  14. Pretnar-Oblak, Janja |
  15. Leypoldt, Frank |
  16. Matschke, Jakob |
  17. Glatzel, Markus |
  18. Erro, Elena Maria |
  19. Jerico, Ivonne |
  20. Caballero, Maria Cristina |
  21. Zelaya, Maria Victoria |
  22. Mariotto, Sara |
  23. Heidbreder, Anna |
  24. Kalev, Ognian |
  25. Weis, Serge |
  26. Macher, Stefan |
  27. Berger-Sieczkowski, Evelyn |
  28. Ferrari, Julia |
  29. Reisinger, Christoph |
  30. Klupp, Nikolaus |
  31. Tienari, Pentti |
  32. Rautila, Osma |
  33. Niemelä, Marja |
  34. Yilmazer-Hanke, Deniz |
  35. Guasp, Mar |
  36. Bloem, Bas |
  37. Van Gaalen, Judith |
  38. Kusters, Benno |
  39. Titulaer, Maarten |
  40. Fransen, Nina L. |
  41. Santamaria, Joan |
  42. Dawson, Thimoty |
  43. Holton, Janice L. |
  44. Ling, Helen |
  45. Revesz, Tamas |
  46. Myllykangas, Liisa |
  47. Budka, Herbert |
  48. Kovacs, Gabor G. |
  49. Lewerenz, Jan |
  50. Dalmau, Josep |
  51. Graus, Francesc |
  52. Koneczny, Inga |
  53. Höftberger, Romana |
1000 Verlag Springer Berlin Heidelberg
1000 Erscheinungsjahr 2024
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2024-10-14
1000 Erschienen in
1000 Quellenangabe
  • 148(1):53
1000 Copyrightjahr
  • 2024
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s00401-024-02805-y |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11473580/ |
1000 Publikationsstatus
1000 Begutachtungsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • <jats:title>Abstract</jats:title><jats:p>Anti-IgLON5 disease is a unique condition that bridges autoimmunity and neurodegeneration. Since its initial description 10 years ago, an increasing number of autopsies has led to the observation of a broader spectrum of neuropathologies underlying a particular constellation of clinical symptoms. In this study, we describe the neuropathological findings in 22 patients with anti-IgLON5 disease from 9 different European centers. In 15 patients (68%), we observed a hypothalamic and brainstem-predominant tauopathy of varying severity in which the original research neuropathological criteria were readily applicable. This pathology was observed in younger patients (median age at onset 61 years) with a long disease duration (median 9 years). In contrast, in 7 (32%) patients, the originally described brainstem tauopathy was nearly absent or only minimal in the form of delicate threads, despite mild-to-moderate neurodegenerative features, consistent clinical symptoms and the presence of anti-IgLON5 antibodies in CSF and serum. These patients were older at onset (median 79 years) and had shorter disease duration (median &lt; 1 year). Overall, about one-third of the patients showed concomitant TDP-43 pathology within the regions affected by tau pathology and/or neurodegeneration. Based on these observations and in view of the spectrum of the tau burden in the core regions involved in the disease, we propose a simple staging system: <jats:italic>stage 1</jats:italic> mild neurodegeneration without overt or only minimal tau pathology,<jats:italic> stage 2</jats:italic> moderate neurodegeneration and mild/ moderate tauopathy and <jats:italic>stage 3</jats:italic> prominent neurodegeneration and tau pathology. This staging intends to reflect a potential (age- and time-dependent) progression of tau pathology, supporting the current notion that tau accumulation is a secondary phenomenon related to the presence of anti-IgLON5 antibodies in the CNS. Finally, we adapt the original research criteria of the anti-IgLON5 disease-related tauopathy to include the spectrum of pathologies observed in this larger postmortem series.</jats:p>
1000 Sacherschließung
lokal Anti-IgLON5 disease
lokal Brain Stem/pathology [MeSH]
lokal Tauopathies/immunology [MeSH]
lokal Aged, 80 and over [MeSH]
lokal Aged [MeSH]
lokal Atypical
lokal Tauopathies/pathology [MeSH]
lokal Stages
lokal Anti-IgLON5 tauopathy
lokal 4R tau
lokal IgLON5
lokal Autoantibodies/immunology [MeSH]
lokal tau Proteins/immunology [MeSH]
lokal DNA-Binding Proteins/metabolism [MeSH]
lokal Cell Adhesion Molecules, Neuronal/metabolism [MeSH]
lokal Male [MeSH]
lokal Brain Stem/metabolism [MeSH]
lokal Brainstem tauopathy
lokal Dementia
lokal PSP
lokal Female [MeSH]
lokal Adult [MeSH]
lokal Humans [MeSH]
lokal Middle Aged [MeSH]
lokal Motor neuron disease
lokal Original Paper
lokal ALS
lokal Cell Adhesion Molecules, Neuronal/immunology [MeSH]
lokal Neuropathology
lokal Brain Stem/immunology [MeSH]
lokal TDP-43
lokal tau Proteins/metabolism [MeSH]
lokal 3R
1000 Fächerklassifikation (DDC)
1000 Liste der Beteiligten
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