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

Erscheinungsjahr:

2020

Erschienen:

2020

Enthalten in:

Zur Gesamtaufnahme - volume:7

Enthalten in:

Neurology(R) neuroimmunology & neuroinflammation - 7(2020), 2 vom: 11. März

Sprache:

Englisch

Beteiligte Personen:

Erro, Maria Elena [VerfasserIn]
Sabater, Lidia [VerfasserIn]
Martínez, Laura [VerfasserIn]
Herrera, María [VerfasserIn]
Ostolaza, Aiora [VerfasserIn]
García de Gurtubay, Iñaki [VerfasserIn]
Tuñón, Teresa [VerfasserIn]
Graus, Francesc [VerfasserIn]
Gelpi, Ellen [VerfasserIn]

Links:

Volltext

Themen:

Autoantibodies
Case Reports
Cell Adhesion Molecules, Neuronal
IgLON5 protein, human
Journal Article
MAPT protein, human
Research Support, Non-U.S. Gov't
Tau Proteins

Anmerkungen:

Date Completed 06.05.2021

Date Revised 06.05.2021

published: Electronic-Print

Citation Status MEDLINE

doi:

10.1212/NXI.0000000000000651

funding:

Förderinstitution / Projekttitel:

PPN (Katalog-ID):

NLM304282529