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@ARTICLE{Arlt:268498,
author = {Arlt, Friederike A and Miske, Ramona and Machule,
Marie-Luise and Broegger Christensen, Peter and Mindorf,
Swantje and Teegen, Bianca and Borowski, Kathrin and Buthut,
Maria and Rößling, Rosa and Sánchez-Sendín, Elisa and
van Hoof, Scott and Cordero-Gómez, César and Bünger,
Isabel and Radbruch, Helena and Kraft, Andrea and Ayzenberg,
Ilya and Klausewitz, Jaqueline and Hansen, Niels and
Timäus, Charles and Körtvelyessy, Peter and Postert,
Thomas and Baur-Seack, Kirsten and Rost, Constanze and
Brunkhorst, Robert and Doppler, Kathrin and Haigis, Niklas
and Hamann, Gerhard and Kunze, Albrecht and Stützer,
Alexandra and Maschke, Matthias and Melzer, Nico and
Rosenow, Felix and Siebenbrodt, Kai and Stenør, Christian
and Dichgans, Martin and Georgakis, Marios K and Fang, Rong
and Petzold, Gabor C and Görtler, Michael and Zerr, Inga
and Wunderlich, Silke and Mihaljevic, Ivan and Turko, Paul
and Schmidt Ettrup, Marianne and Buchholz, Emilie and
Foverskov Rasmussen, Helle and Nasouti, Mahoor and Talucci,
Ivan and Maric, Hans M and Heinemann, Stefan H and Endres,
Matthias and Komorowski, Lars and Prüss, Harald},
collaboration = {group, DEMDAS study},
title = {{KCNA}2 {I}g{G} autoimmunity in neuropsychiatric diseases.},
journal = {Brain, behavior and immunity},
volume = {117},
issn = {0889-1591},
address = {Orlando, Fla.},
publisher = {Academic Press},
reportid = {DZNE-2024-00244},
pages = {399 - 411},
year = {2024},
abstract = {Autoantibodies against the potassium voltage-gated channel
subfamily A member 2 (KCNA2) have been described in a few
cases of neuropsychiatric disorders, but their diagnostic
and pathophysiological role is currently unknown, imposing
challenges to medical practice.We retrospectively collected
comprehensive clinical and paraclinical data of 35 patients
with KCNA2 IgG autoantibodies detected in cell-based and
tissue-based assays. Patients' sera and cerebrospinal fluid
(CSF) were used for characterization of the antigen,
clinical-serological correlations, and determination of IgG
subclasses.KCNA2 autoantibody-positive patients (n = 35,
median age at disease onset of 65 years, range of 16-83
years, 74 $\%$ male) mostly presented with cognitive
impairment and/or epileptic seizures but also ataxia, gait
disorder and personality changes. Serum autoantibodies
belonged to IgG3 and IgG1 subclasses and titers ranged from
1:32 to 1:10,000. KCNA2 IgG was found in the CSF of 8/21 (38
$\%)$ patients and in the serum of 4/96 (4.2 $\%)$ healthy
blood donors. KCNA2 autoantibodies bound to characteristic
anatomical areas in the cerebellum and hippocampus of
mammalian brain and juxtaparanodal regions of peripheral
nerves but reacted exclusively with intracellular epitopes.
A subset of four KCNA2 autoantibody-positive patients
responded markedly to immunotherapy alongside with
conversion to seronegativity, in particular those presenting
an autoimmune encephalitis phenotype and receiving early
immunotherapy. An available brain biopsy showed strong
immune cell invasion. KCNA2 autoantibodies occurred in less
than 10 $\%$ in association with an underlying tumor.Our
data suggest that KCNA2 autoimmunity is clinically
heterogeneous. Future studies should determine whether KCNA2
autoantibodies are directly pathogenic or develop
secondarily. Early immunotherapy should be considered, in
particular if autoantibodies occur in CSF or if clinical or
diagnostic findings suggest ongoing inflammation. Suspicious
clinical phenotypes include autoimmune encephalitis,
atypical dementia, new-onset epilepsy and unexplained
epileptic seizures.},
keywords = {Animals / Humans / Male / Adolescent / Young Adult / Adult
/ Middle Aged / Aged / Aged, 80 and over / Female /
Autoimmunity / Retrospective Studies / Autoantibodies /
Seizures / Autoimmune Diseases of the Nervous System /
Mammals / Kv1.2 Potassium Channel / Encephalitis / Hashimoto
Disease / Autoantibody (Other) / Autoimmune dementia (Other)
/ Autoimmune encephalitis (Other) / Epilepsy (Other) /
Immunotherapy (Other) / KCNA2 (Other) / Kv1.2 (Other) /
Autoantibodies (NLM Chemicals) / KCNA2 protein, human (NLM
Chemicals) / Kv1.2 Potassium Channel (NLM Chemicals)},
cin = {AG Prüß / AG Dichgans / AG Endres / AG Düzel / AG
Petzold ; AG Petzold / AG Zerr},
ddc = {150},
cid = {I:(DE-2719)1810003 / I:(DE-2719)5000022 /
I:(DE-2719)1811005 / I:(DE-2719)5000006 / I:(DE-2719)1013020
/ I:(DE-2719)1440011-1},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:38309639},
doi = {10.1016/j.bbi.2024.01.220},
url = {https://pub.dzne.de/record/268498},
}