Anti-IGLON5 disease : A new case without neuropathologic evidence of brainstem tauopathy
Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology..
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.
Medienart: |
E-Artikel |
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Erscheinungsjahr: |
2020 |
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Erschienen: |
2020 |
Enthalten in: |
Zur Gesamtaufnahme - volume:7 |
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Enthalten in: |
Neurology(R) neuroimmunology & neuroinflammation - 7(2020), 2 vom: 11. März |
Sprache: |
Englisch |
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Beteiligte Personen: |
Erro, Maria Elena [VerfasserIn] |
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Links: |
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Themen: |
Autoantibodies |
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Anmerkungen: |
Date Completed 06.05.2021 Date Revised 06.05.2021 published: Electronic-Print Citation Status MEDLINE |
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doi: |
10.1212/NXI.0000000000000651 |
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funding: |
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Förderinstitution / Projekttitel: |
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PPN (Katalog-ID): |
NLM304282529 |
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100 | 1 | |a Erro, Maria Elena |e verfasserin |4 aut | |
245 | 1 | 0 | |a Anti-IGLON5 disease |b A new case without neuropathologic evidence of brainstem tauopathy |
264 | 1 | |c 2020 | |
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500 | |a published: Electronic-Print | ||
500 | |a Citation Status MEDLINE | ||
520 | |a Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. | ||
520 | |a OBJECTIVE: To describe the neuropathologic features and the molecular data of phosphorylated tau (pTau) in a new case of anti-IgLON5 disease | ||
520 | |a 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 | ||
520 | |a 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 | ||
520 | |a 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 | ||
650 | 4 | |a Case Reports | |
650 | 4 | |a Journal Article | |
650 | 4 | |a Research Support, Non-U.S. Gov't | |
650 | 7 | |a Autoantibodies |2 NLM | |
650 | 7 | |a Cell Adhesion Molecules, Neuronal |2 NLM | |
650 | 7 | |a IgLON5 protein, human |2 NLM | |
650 | 7 | |a MAPT protein, human |2 NLM | |
650 | 7 | |a tau Proteins |2 NLM | |
700 | 1 | |a Sabater, Lidia |e verfasserin |4 aut | |
700 | 1 | |a Martínez, Laura |e verfasserin |4 aut | |
700 | 1 | |a Herrera, María |e verfasserin |4 aut | |
700 | 1 | |a Ostolaza, Aiora |e verfasserin |4 aut | |
700 | 1 | |a García de Gurtubay, Iñaki |e verfasserin |4 aut | |
700 | 1 | |a Tuñón, Teresa |e verfasserin |4 aut | |
700 | 1 | |a Graus, Francesc |e verfasserin |4 aut | |
700 | 1 | |a Gelpi, Ellen |e verfasserin |4 aut | |
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