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@ARTICLE{Yogeshwar:285470,
author = {Yogeshwar, Selina M and Bartels, Frederik and Grüter,
Thomas and Muñiz-Castrillo, Sergio and Picard, Géraldine
and Crijnen, Yvette S and Bernard, Emilien and Heidbreder,
Anna and Zekeridou, Anastasia and Ringelstein, Marius and
Kraft, Andrea and Kovac, Stjepana and Wandinger, Klaus-Peter
and de Vries, Juna M and Boon, Agnita J W and Veenbergen,
Sharon and Geis, Christian and Penner, Loana and Melzer,
Nico and Leypoldt, Frank and Blaabjerg, Morten and Pittock,
Sean J and Gaig, Carles and Sabater, Lidia and Santamaria,
Joan and Graus, Francesc and Dalmau, Josep and Prüss,
Harald and Höftberger, Romana and Schreiner, Bettina and
McKeon, Andrew and Lewerenz, Jan and Irani, Sarosh and
Mignot, Emmanuel and Titulaer, Maarten J and Ayzenberg, Ilya
and Honnorat, Jérôme and Finke, Carsten},
collaboration = {Consortium, IgLON5 Imaging},
othercontributors = {Francillard, Aurélie Méneret Isabelle and Renard, Dimitri
and Desestret, Virginie and Capet, Nicolas and Davion,
Jeanbaptiste and Boucher, Julie and Zephir, Helene and
Damier, Philippe and Combres, Helene and Rafiq, Marie and
Bonneville, Fabrice and Cumin, Marina and Soulages, Antoine
and Compoint, Mathilde and Moulin, Maximilien and Berling,
Edouard and Garrigues, Eve and Chanson, Marine and Bourg,
Veronique and Giordana, Caroline and Benoit, Jeanne and
Flabeau, Olivier and Derivoyre, Emmanuelle and Ryckewaert,
Gilles and Alberto, Tifanie and Carriere, Nicolas and
Mostoufizadehs, Sohrab and Barbay, Melanie and Benaiteau,
Marie and Vogrig, Alberto and Sellal, Francois and Casez,
Olivier and Bruel, Cedric and Kalifa, L. and Rusu, Elena
Camelia and Demortiere, Sarah and Maarouf, Adil and Wang,
Adrien and Brasset, Adelaide and Dalliere, Clarisse Carra
and Attal, Arthur and Demourant, Céline and Cluse, Florent
and Houeto, Jean-Luc and Brueggemann, Norbert and
Dargvainiene, Justina and Seifert, Thomas and Oy, Ulrich
Hofstadt-van and Nagel, Michael and Urbanek, Christian and
Schroeder, Ina and Schramm, Peter and Tonner, Silke and
Seitz, Caspar and Tschernatsch, Marlene and Chung, Ha-Yeun
and Wickel, Jonathan and Schoeberl, Florian and Macher,
Stefan and Simabukuro, Mateus M and Zittel-Dirks, Simone and
Wildemann, Brigitte and Kothaj, Jan and Ordas, Carlos and
Álvarez, Javier Villacieros and Angstwurm, Klemens and
Macher, Stefan and Berger-Sieczkowski, Evelyn and Tomás,
Ángela Milán and Bastida, Antonio Martin and Quintas,
Sonia and Tambasco, Nicola and Nigro, Pasquale and Iorio,
Raffaele and Ono, Yoya and Shimohata, Takayoshi and Akio,
Kimura and Akira, Takekoshi and Scheller-Nissen, Mette and
Hartmann, Christian and Bastiaansen, Danielle and van
Steenhoven, Robin and Schwichtenberg, Katia},
title = {{B}rain atrophy patterns in anti-{I}g{LON}5 disease.},
journal = {Brain},
volume = {149},
number = {3},
issn = {0006-8950},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DZNE-2026-00247},
pages = {884 - 896},
year = {2026},
abstract = {Anti-IgLON5 disease is an autoimmune encephalitis that
presents with a heterogenous clinical phenotype, including
sleep disorders, movement abnormalities and bulbar
involvement. It is characterized by autoantibodies against
IgLON5, $85\%$ association with HLA-DQB1*05:∼ and a
brainstem-dominant tauopathy. Cellular and murine models
report pathogenic effects of the autoantibodies, and
neurodegenerative factors suggest progressive atrophy as a
common sequela. However, evidence from in vivo patient data
and long-term follow-up is limited, and the degree of
progression remains elusive. In this multicentre study,
clinical and brain MRI data were collected from 127 patients
across 12 countries to investigate the relationships between
clinical presentations and the development of distinct brain
atrophy patterns. Our data show that most patients develop a
complex multisystem phenotype as the disease progresses;
however, neuromuscular manifestations rarely emerge at later
disease stages. By comparison to healthy controls, this
disease presents with severe substructure-specific atrophy,
especially affecting the hypothalamus, brainstem, accumbens
and basal ganglia, which, in age-independent analyses, show
significant ventricular enlargement and also suggest
progression of brainstem atrophy over the disease course.
Moreover, the focality of atrophy was functionally linked to
specific symptoms, with more severe involvement of the basal
ganglia in patients with movement disorders, and greater
atrophy in the hippocampus and thalamus in patients with
cognitive impairment. Taken together, our results provide
evidence of distinct atrophy patterns in anti-IgLON5
disease, which closely mirror sites of pathophysiologic
processes, including autoantibody binding and tau
deposition. Our data emphasize the brainstem as the
pathophysiological hub of the disease and provide normative
data for the incorporation of atrophy measurements into
routine clinical assessments and future treatment studies to
monitor disease trajectory and evaluate future treatment
strategies.},
keywords = {Humans / Male / Atrophy: pathology / Female / Middle Aged /
Brain: pathology / Brain: diagnostic imaging / Aged /
Magnetic Resonance Imaging / Adult / Autoantibodies:
immunology / Cell Adhesion Molecules, Neuronal: immunology /
Disease Progression / Autoimmune Diseases of the Nervous
System: pathology / Autoimmune Diseases of the Nervous
System: diagnostic imaging / Autoimmune Diseases of the
Nervous System: immunology / Encephalitis: pathology /
Encephalitis: immunology / Encephalitis: diagnostic imaging
/ IgLON5 (Other) / MRI (Other) / atrophy (Other) /
autoimmune encephalitis (Other) / IgLON5 protein, human (NLM
Chemicals) / Autoantibodies (NLM Chemicals) / Cell Adhesion
Molecules, Neuronal (NLM Chemicals)},
cin = {AG Prüß},
ddc = {610},
cid = {I:(DE-2719)1810003},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40650880},
doi = {10.1093/brain/awaf256},
url = {https://pub.dzne.de/record/285470},
}
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