%0 Journal Article
%A Stehr, Antonia M
%A Koeglsperger, Thomas
%A Jacob, Maureen
%A Rhodio, Valerio
%A Winkelmann, Juliane
%A Hopfner, Franziska
%A Zech, Michael
%T Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
%J Tremor and other hyperkinetic movements
%V 14
%N 1
%@ 2160-8288
%C New York, NY
%I Center for Digital Research and Scholarship
%M DZNE-2024-01183
%P 48
%D 2024
%X 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.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.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.
%K Humans
%K Tremor: genetics
%K Tremor: physiopathology
%K Young Adult
%K Repressor Proteins: genetics
%K Male
%K Intellectual Disability: genetics
%K Intellectual Disability: physiopathology
%K Facies
%K Frameshift Mutation
%K Microcephaly: genetics
%K Microcephaly: complications
%K Microcephaly: physiopathology
%K Tooth Abnormalities: genetics
%K Tooth Abnormalities: physiopathology
%K Bone Diseases, Developmental: genetics
%K Bone Diseases, Developmental: physiopathology
%K Bone Diseases, Developmental: complications
%K Bone Diseases, Developmental: diagnosis
%K Female
%K Abnormalities, Multiple
%K ANKRD11 (Other)
%K KBG syndrome (Other)
%K combined tremor syndrome (Other)
%K tremor (Other)
%K ANKRD11 protein, human (NLM Chemicals)
%K Repressor Proteins (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:39346806
%2 pmc:PMC11428658
%R 10.5334/tohm.926
%U https://pub.dzne.de/record/272507