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Stehr, A.M.* ; Koeglsperger, T.* ; Jacob, M.* ; Rhodio, V.* ; Winkelmann, J. ; Hopfner, F.* ; Zech, M.

Tremor-dominant movement disorder in ANKRD11- associated KBG syndrome.

Tremor Other Hyperkinet. Mov. 14:48 (2024)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
BACKGROUND: KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in ANKRD11. A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders. CASE REPORT: We report a 24-year-old patient harboring a pathogenic de novo ANKRD11 frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy. DISCUSSION: Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. ANKRD11 pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ankrd11 ; Kbg Syndrome ; Combined Tremor Syndrome ; Tremor
Sprache englisch
Veröffentlichungsjahr 2024
HGF-Berichtsjahr 2024
ISSN (print) / ISBN 2160-8288
e-ISSN 2160-8288
Zeitschrift Tremor and other hyperkinetic movements
Quellenangaben Band: 14, Heft: , Seiten: , Artikelnummer: 48 Supplement: ,
Verlag Center for Digital Research and Scholarship
Verlagsort New York, NY
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 Else Kroner-Fresenius-Stiftung
European Joint Programme on Rare Diseases
German Federal Ministry of Education and Research (BMBF, Bonn, Germany)
Federal Ministry of Education and Research (BMBF)
Free State of Bavaria under the Excellence Strategy of the Federal Government
Lander
Technical University of Munich - Institute for Advanced Study
German Research Foundation (DFG)
DOI 10.5334/tohm.926
WOS ID 001328051900001
PubMed ID 39346806
Erfassungsdatum 2024-10-15
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