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Titel:

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

Dokumenttyp:
Case Reports; Research Support, Non-U.S. Gov't
Autor(en):
Škorvánek, Matej; Jech, Robert; Winkelmann, Juliane; Zech, Michael
Abstract:
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...     »
Zeitschriftentitel:
Ann Clin Transl Neurol
Jahr:
2022
Band / Volume:
9
Heft / Issue:
4
Seitenangaben Beitrag:
577-581
Volltext / DOI:
doi:10.1002/acn3.51538
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/35267244
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann); Lehrstuhl für Neurogenetik (N.N.)
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