Pubblicazioni

Autori:

Gelpi, Ellen; Reinecke, Raphael; Gaig, Carles; Iranzo, Alex; Sabater, Lidia; Molina-Porcel, Laura; Aldecoa, Iban; Endmayr, Verena; Högl, Birgit; Schmutzhard, Erich; Poewe, Werner; Pfausler, Bettina; Popovic, Mara; Pretnar-Oblak, Janja; Leypoldt, Frank; Matschke, Jakob; Glatzel, Markus; Erro, Elena Maria; Jerico, Ivonne; Caballero, Maria Cristina; Zelaya, Maria Victoria; Mariotto, Sara; Heidbreder, Anna; Kalev, Ognian; Weis, Serge; Macher, Stefan; Berger-Sieczkowski, Evelyn; Ferrari, Julia; Reisinger, Christoph; Klupp, Nikolaus; Tienari, Pentti; Rautila, Osma; Niemelä, Marja; Yilmazer-Hanke, Deniz; Guasp, Mar; Bloem, Bas; Van Gaalen, Judith; Kusters, Benno; Titulaer, Maarten; Fransen, Nina L; Santamaria, Joan; Dawson, Thimoty; Holton, Janice L; Ling, Helen; Revesz, Tamas; Myllykangas, Liisa; Budka, Herbert; Kovacs, Gabor G; Lewerenz, Jan; Dalmau, Josep; Graus, Francesc; Koneczny, Inga; Höftberger, Romana

Titolo:

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

Anno:

2024

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

Elettronico

Referee:

Sì

Nome rivista:

Acta Neuropathologica

ISSN Rivista:

0001-6322

N° Volume:

148

Numero o Fascicolo:

53

Intervallo pagine:

1-25

Parole chiave:

3R; 4R tau; ALS; Anti-IgLON5 disease; Anti-IgLON5 tauopathy; Atypical; Brainstem tauopathy; Dementia; IgLON5; Motor neuron disease; Neuropathology; PSP; Stages; TDP-43

Breve descrizione dei contenuti:

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 < 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: stage 1 mild neurodegeneration without overt or only minimal tau pathology, stage 2 moderate neurodegeneration and mild/ moderate tauopathy and stage 3 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.

Pagina Web:

https://doi.org/10.1007/s00401-024-02805-y

Id prodotto:

141841

Handle IRIS:

11562/1143326

ultima modifica:

19 dicembre 2024

Citazione bibliografica:

Gelpi, Ellen; Reinecke, Raphael; Gaig, Carles; Iranzo, Alex; Sabater, Lidia; Molina-Porcel, Laura; Aldecoa, Iban; Endmayr, Verena; Högl, Birgit; Schmutzhard, Erich; Poewe, Werner; Pfausler, Bettina; Popovic, Mara; Pretnar-Oblak, Janja; Leypoldt, Frank; Matschke, Jakob; Glatzel, Markus; Erro, Elena Maria; Jerico, Ivonne; Caballero, Maria Cristina; Zelaya, Maria Victoria; Mariotto, Sara; Heidbreder, Anna; Kalev, Ognian; Weis, Serge; Macher, Stefan; Berger-Sieczkowski, Evelyn; Ferrari, Julia; Reisinger, Christoph; Klupp, Nikolaus; Tienari, Pentti; Rautila, Osma; Niemelä, Marja; Yilmazer-Hanke, Deniz; Guasp, Mar; Bloem, Bas; Van Gaalen, Judith; Kusters, Benno; Titulaer, Maarten; Fransen, Nina L; Santamaria, Joan; Dawson, Thimoty; Holton, Janice L; Ling, Helen; Revesz, Tamas; Myllykangas, Liisa; Budka, Herbert; Kovacs, Gabor G; Lewerenz, Jan; Dalmau, Josep; Graus, Francesc; Koneczny, Inga; Höftberger, Romana, Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy «Acta Neuropathologica» , vol. 148 , n. 53 , 2024 , pp. 1-25

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo