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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)

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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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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Ankrd11 ; Kbg Syndrome ; Combined Tremor Syndrome ; Tremor

ISSN (print) / ISBN 2160-8288

e-ISSN 2160-8288

Journal Tremor and other hyperkinetic movements

Quellenangaben Volume: 14, Article Number: 48

Publisher Center for Digital Research and Scholarship

Publishing Place New York, NY

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Neurogenomics (ING)

Grants 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)