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001     272507
005     20241017164443.0
024 7 _ |a 10.5334/tohm.926
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024 7 _ |a pmc:PMC11428658
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037 _ _ |a DZNE-2024-01183
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Stehr, Antonia M
|0 0000-0001-9932-5187
|b 0
245 _ _ |a Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
260 _ _ |a New York, NY
|c 2024
|b Center for Digital Research and Scholarship
336 7 _ |a article
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520 _ _ |a 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.
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650 _ 7 |a ANKRD11
|2 Other
650 _ 7 |a KBG syndrome
|2 Other
650 _ 7 |a combined tremor syndrome
|2 Other
650 _ 7 |a tremor
|2 Other
650 _ 7 |a ANKRD11 protein, human
|2 NLM Chemicals
650 _ 7 |a Repressor Proteins
|2 NLM Chemicals
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Tremor: genetics
|2 MeSH
650 _ 2 |a Tremor: physiopathology
|2 MeSH
650 _ 2 |a Young Adult
|2 MeSH
650 _ 2 |a Repressor Proteins: genetics
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Intellectual Disability: genetics
|2 MeSH
650 _ 2 |a Intellectual Disability: physiopathology
|2 MeSH
650 _ 2 |a Facies
|2 MeSH
650 _ 2 |a Frameshift Mutation
|2 MeSH
650 _ 2 |a Microcephaly: genetics
|2 MeSH
650 _ 2 |a Microcephaly: complications
|2 MeSH
650 _ 2 |a Microcephaly: physiopathology
|2 MeSH
650 _ 2 |a Tooth Abnormalities: genetics
|2 MeSH
650 _ 2 |a Tooth Abnormalities: physiopathology
|2 MeSH
650 _ 2 |a Bone Diseases, Developmental: genetics
|2 MeSH
650 _ 2 |a Bone Diseases, Developmental: physiopathology
|2 MeSH
650 _ 2 |a Bone Diseases, Developmental: complications
|2 MeSH
650 _ 2 |a Bone Diseases, Developmental: diagnosis
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Abnormalities, Multiple
|2 MeSH
700 1 _ |a Koeglsperger, Thomas
|0 P:(DE-2719)2810825
|b 1
|e First author
700 1 _ |a Jacob, Maureen
|b 2
700 1 _ |a Rhodio, Valerio
|b 3
700 1 _ |a Winkelmann, Juliane
|0 0000-0002-3074-599X
|b 4
700 1 _ |a Hopfner, Franziska
|0 0000-0001-6524-0281
|b 5
|e Last author
700 1 _ |a Zech, Michael
|0 0000-0001-8112-9153
|b 6
773 _ _ |a 10.5334/tohm.926
|g Vol. 14, no. 1, p. 48
|0 PERI:(DE-600)2674453-3
|n 1
|p 48
|t Tremor and other hyperkinetic movements
|v 14
|y 2024
|x 2160-8288
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