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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)

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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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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Ataxia-telangiectasia; Dystonia; Patient; Gene; Neurodegeneration; Variants

ISSN (print) / ISBN 2328-9503

e-ISSN 2328-9503

Journal Annals of Clinical and Translational Neurology

Quellenangaben Volume: 9, Issue: 4, Pages: 577-581

Publisher Wiley

Publishing Place Chichester [u.a.]

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants Technische Universität München
Slovak Grant and Development Agency

Czech Ministry of Education
Charles University
Helmholtz Zentrum Munchen
German Research Foundation