Cargando…

Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy

OBJECTIVE: To describe the neuropathologic features and the molecular data of phosphorylated tau (pTau) in a new case of anti-IgLON5 disease. METHODS: Review of clinical data, postmortem neuropathologic examination. Biochemical analyses of pTau were performed in brain samples from the present case a...

Descripción completa

Detalles Bibliográficos
Autores principales: Erro, Maria Elena, Sabater, Lidia, Martínez, Laura, Herrera, María, Ostolaza, Aiora, García de Gurtubay, Iñaki, Tuñón, Teresa, Graus, Francesc, Gelpi, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007636/
https://www.ncbi.nlm.nih.gov/pubmed/31826985
http://dx.doi.org/10.1212/NXI.0000000000000651
_version_ 1783495345439768576
author Erro, Maria Elena
Sabater, Lidia
Martínez, Laura
Herrera, María
Ostolaza, Aiora
García de Gurtubay, Iñaki
Tuñón, Teresa
Graus, Francesc
Gelpi, Ellen
author_facet Erro, Maria Elena
Sabater, Lidia
Martínez, Laura
Herrera, María
Ostolaza, Aiora
García de Gurtubay, Iñaki
Tuñón, Teresa
Graus, Francesc
Gelpi, Ellen
author_sort Erro, Maria Elena
collection PubMed
description OBJECTIVE: To describe the neuropathologic features and the molecular data of phosphorylated tau (pTau) in a new case of anti-IgLON5 disease. METHODS: Review of clinical data, postmortem neuropathologic examination. Biochemical analyses of pTau were performed in brain samples from the present case and from a previously described patient with anti-IgLON5 with the characteristic brainstem tauopathy. RESULTS: The patient was a 71-year-old man with a clinical syndrome consisting of sleep disturbance and bulbar symptoms. IgLON5 antibodies of predominant IgG4 subtype were detected in serum and CSF. He carried the HLA DRB1*10:01-DQB1*05:01 haplotype. Despite treatment with IV immunoglobulins, he unexpectedly died during sleep 2 years after disease onset. Histology showed neurofibrillary pathology and β-amyloid deposits consistent with Alzheimer disease (AD) of intermediate severity. pTau deposits were absent in the brainstem. There were few perivascular CD8(+) T-cell infiltrates in the posterior hypothalamus, amygdala, and brainstem with microglial activation. The pTau immunoblot showed a pattern of bands consistent with AD, which was different from that observed in the patient with anti-IgLON5 with brainstem tauopathy who presented a differential band around 56 KDa. CONCLUSION: The absence of pTau deposits in the brainstem of the present patient suggests that the tauopathy of patients with anti-IgLON5 disease may be a late, secondary event. The anti-IgLON5 brainstem tauopathy has a specific molecular signature different from primary tauopathies. pTau deposits restricted to the hippocampus/limbic regions of patients with anti-IgLON5 may represent an age-related comorbidity.
format Online
Article
Text
id pubmed-7007636
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Lippincott Williams & Wilkins
record_format MEDLINE/PubMed
spelling pubmed-70076362020-02-10 Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy Erro, Maria Elena Sabater, Lidia Martínez, Laura Herrera, María Ostolaza, Aiora García de Gurtubay, Iñaki Tuñón, Teresa Graus, Francesc Gelpi, Ellen Neurol Neuroimmunol Neuroinflamm Article OBJECTIVE: To describe the neuropathologic features and the molecular data of phosphorylated tau (pTau) in a new case of anti-IgLON5 disease. METHODS: Review of clinical data, postmortem neuropathologic examination. Biochemical analyses of pTau were performed in brain samples from the present case and from a previously described patient with anti-IgLON5 with the characteristic brainstem tauopathy. RESULTS: The patient was a 71-year-old man with a clinical syndrome consisting of sleep disturbance and bulbar symptoms. IgLON5 antibodies of predominant IgG4 subtype were detected in serum and CSF. He carried the HLA DRB1*10:01-DQB1*05:01 haplotype. Despite treatment with IV immunoglobulins, he unexpectedly died during sleep 2 years after disease onset. Histology showed neurofibrillary pathology and β-amyloid deposits consistent with Alzheimer disease (AD) of intermediate severity. pTau deposits were absent in the brainstem. There were few perivascular CD8(+) T-cell infiltrates in the posterior hypothalamus, amygdala, and brainstem with microglial activation. The pTau immunoblot showed a pattern of bands consistent with AD, which was different from that observed in the patient with anti-IgLON5 with brainstem tauopathy who presented a differential band around 56 KDa. CONCLUSION: The absence of pTau deposits in the brainstem of the present patient suggests that the tauopathy of patients with anti-IgLON5 disease may be a late, secondary event. The anti-IgLON5 brainstem tauopathy has a specific molecular signature different from primary tauopathies. pTau deposits restricted to the hippocampus/limbic regions of patients with anti-IgLON5 may represent an age-related comorbidity. Lippincott Williams & Wilkins 2019-12-11 /pmc/articles/PMC7007636/ /pubmed/31826985 http://dx.doi.org/10.1212/NXI.0000000000000651 Text en Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Article
Erro, Maria Elena
Sabater, Lidia
Martínez, Laura
Herrera, María
Ostolaza, Aiora
García de Gurtubay, Iñaki
Tuñón, Teresa
Graus, Francesc
Gelpi, Ellen
Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy
title Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy
title_full Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy
title_fullStr Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy
title_full_unstemmed Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy
title_short Anti-IGLON5 disease: A new case without neuropathologic evidence of brainstem tauopathy
title_sort anti-iglon5 disease: a new case without neuropathologic evidence of brainstem tauopathy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007636/
https://www.ncbi.nlm.nih.gov/pubmed/31826985
http://dx.doi.org/10.1212/NXI.0000000000000651
work_keys_str_mv AT erromariaelena antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT sabaterlidia antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT martinezlaura antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT herreramaria antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT ostolazaaiora antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT garciadegurtubayinaki antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT tunonteresa antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT grausfrancesc antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy
AT gelpiellen antiiglon5diseaseanewcasewithoutneuropathologicevidenceofbrainstemtauopathy