Journal Article

DZNE-2024-01183

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

Stehr, A. M. ; Koeglsperger, T. (First author)DZNE* ; Jacob, M. ; Rhodio, V. ; Winkelmann, J. ; Hopfner, F. (Last author)DZNE* ; Zech, M.

2024
Center for Digital Research and Scholarship New York, NY

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Please use a persistent id in citations: doi:10.5334/tohm.926

Abstract: 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.

Keyword(s): Humans (MeSH) ; Tremor: genetics (MeSH) ; Tremor: physiopathology (MeSH) ; Young Adult (MeSH) ; Repressor Proteins: genetics (MeSH) ; Male (MeSH) ; Intellectual Disability: genetics (MeSH) ; Intellectual Disability: physiopathology (MeSH) ; Facies (MeSH) ; Frameshift Mutation (MeSH) ; Microcephaly: genetics (MeSH) ; Microcephaly: complications (MeSH) ; Microcephaly: physiopathology (MeSH) ; Tooth Abnormalities: genetics (MeSH) ; Tooth Abnormalities: physiopathology (MeSH) ; Bone Diseases, Developmental: genetics (MeSH) ; Bone Diseases, Developmental: physiopathology (MeSH) ; Bone Diseases, Developmental: complications (MeSH) ; Bone Diseases, Developmental: diagnosis (MeSH) ; Female (MeSH) ; Abnormalities, Multiple (MeSH) ; ANKRD11 ; KBG syndrome ; combined tremor syndrome ; tremor ; ANKRD11 protein, human ; Repressor Proteins

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Contributing Institute(s):

1. Translational Neurodegeneration (AG Höglinger)
2. Clinical Research (Munich) (Clinical Research (Munich))

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2024

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Database coverage:
; ; ; ; Article Processing Charges ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Emerging Sources Citation Index ; Fees ; IF < 5 ; JCR ; PubMed Central ; Web of Science Core Collection

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