TY  - JOUR
AU  - Stehr, Antonia M
AU  - Koeglsperger, Thomas
AU  - Jacob, Maureen
AU  - Rhodio, Valerio
AU  - Winkelmann, Juliane
AU  - Hopfner, Franziska
AU  - Zech, Michael
TI  - Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
JO  - Tremor and other hyperkinetic movements
VL  - 14
IS  - 1
SN  - 2160-8288
CY  - New York, NY
PB  - Center for Digital Research and Scholarship
M1  - DZNE-2024-01183
SP  - 48
PY  - 2024
AB  - 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.
KW  - Humans
KW  - Tremor: genetics
KW  - Tremor: physiopathology
KW  - Young Adult
KW  - Repressor Proteins: genetics
KW  - Male
KW  - Intellectual Disability: genetics
KW  - Intellectual Disability: physiopathology
KW  - Facies
KW  - Frameshift Mutation
KW  - Microcephaly: genetics
KW  - Microcephaly: complications
KW  - Microcephaly: physiopathology
KW  - Tooth Abnormalities: genetics
KW  - Tooth Abnormalities: physiopathology
KW  - Bone Diseases, Developmental: genetics
KW  - Bone Diseases, Developmental: physiopathology
KW  - Bone Diseases, Developmental: complications
KW  - Bone Diseases, Developmental: diagnosis
KW  - Female
KW  - Abnormalities, Multiple
KW  - ANKRD11 (Other)
KW  - KBG syndrome (Other)
KW  - combined tremor syndrome (Other)
KW  - tremor (Other)
KW  - ANKRD11 protein, human (NLM Chemicals)
KW  - Repressor Proteins (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:39346806
C2  - pmc:PMC11428658
DO  - DOI:10.5334/tohm.926
UR  - https://pub.dzne.de/record/272507
ER  -