ORCID: https://orcid.org/0000-0001-9932-5187; Koeglsperger, Thomas
ORCID: https://orcid.org/0000-0001-6101-0323; Jacob, Maureen; Rhodio, Valerio; Winkelmann, Juliane
ORCID: https://orcid.org/0000-0002-3074-599X; Hopfner, Franziska
ORCID: https://orcid.org/0000-0001-6524-0281 und Zech, Michael
ORCID: https://orcid.org/0000-0001-8112-9153
(2024):
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
In: Tremor and Other Hyperkinetic Movements, Vol. 14, No. 1, 48
[PDF, 1MB]

Abstract
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.
Item Type: | Journal article |
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Faculties: | Medicine > Munich Cluster for Systems Neurology (SyNergy) Medicine > Institute for Stroke and Dementia Research (ISD) Medicine > Medical Center of the University of Munich > Neurological Clinic and Polyclinic with Friedrich Baur Institute |
Subjects: | 600 Technology > 610 Medicine and health |
URN: | urn:nbn:de:bvb:19-epub-123247-0 |
ISSN: | 2160-8288 |
Language: | English |
Item ID: | 123247 |
Date Deposited: | 19. Dec 2024 16:25 |
Last Modified: | 19. Dec 2024 16:25 |
DFG: | Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198 |