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Škorvánek, M.* ; Jech, R.* ; Winkelmann, J. ; Zech, M.

Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: A rare but recurrent presentation.

Ann. Clin. Transl. Neurol. 9, 577-581 (2022)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold
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An association between movement disorders and immune-system dysfunction has been described in the context of rare genetic diseases such as ataxia telangiectasia as well as infectious encephalopathies. We encountered a male patient who presented immunodeficiency of unknown etiology since childhood. A medication-refractory, progressive choreodystonic movement disorder emerged at the age of 42 years and prompted an exome-wide molecular testing approach. This revealed a pathogenic hemizygous variant in CD40LG, the gene implicated in X-linked hyper-IgM syndrome. Only two prior reports have specifically suggested a causal relationship between CD40LG mutations and involuntary hyperkinetic movements. Our findings thus confirm the existence of a particular CD40LG-related condition, combining features of compromised immunity with neurodegenerative movement abnormalities. Establishing the diagnosis is crucial because of potential life-threatening immunological complications.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ataxia-telangiectasia; Dystonia; Patient; Gene; Neurodegeneration; Variants
Sprache englisch
Veröffentlichungsjahr 2022
HGF-Berichtsjahr 2022
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Zeitschrift Annals of Clinical and Translational Neurology
Quellenangaben Band: 9, Heft: 4, Seiten: 577-581 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Chichester [u.a.]
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
Förderungen Technische Universität München
Slovak Grant and Development Agency

Czech Ministry of Education
Charles University
Helmholtz Zentrum Munchen
German Research Foundation
DOI 10.1002/acn3.51538
WOS ID WOS:000766695300001
Scopus ID 85126023470
PubMed ID 35267244
Erfassungsdatum 2022-07-14
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