Tremor-Dominant Movement Disorder in

Humans Tremor / genetics Young Adult Repressor Proteins / genetics Male Intellectual Disability / genetics Facies Frameshift Mutation Microcephaly / genetics Tooth Abnormalities / genetics Bone Diseases, Developmental / genetics Female Abnormalities, Multiple
ANKRD11 KBG syndrome combined tremor syndrome tremor

Journal

Tremor and other hyperkinetic movements (New York, N.Y.)
ISSN: 2160-8288
Titre abrégé: Tremor Other Hyperkinet Mov (N Y)
Pays: England
ID NLM: 101569493

Informations de publication

Date de publication:
2024
Historique:
received: 31 05 2024
accepted: 15 09 2024
medline: 30 9 2024
pubmed: 30 9 2024
entrez: 30 9 2024
Statut: epublish

Résumé

KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in We report a 24-year-old patient harboring a pathogenic Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome.

Sections du résumé

Background UNASSIGNED
KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in
Case report UNASSIGNED
We report a 24-year-old patient harboring a pathogenic
Discussion UNASSIGNED
Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome.

Identifiants

DOI: 10.5334/tohm.926 PMID: 39346806 PMC: PMC11428658
pubmed: 39346806
doi: 10.5334/tohm.926
pmc: PMC11428658
doi:

Substances chimiques

ANKRD11 protein, human 0
Repressor Proteins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

48

Informations de copyright

Copyright: © 2024 The Author(s).

Déclaration de conflit d'intérêts

The authors have no competing interests to declare.

Auteurs

Antonia M Stehr (AM)

Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
ORCID: 0000-0001-9932-5187

Thomas Koeglsperger (T)

Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
Department of Translational Brain Research, German Centre for Neurodegenerative Diseases, Munich, Germany.
ORCID: 0000-0001-6101-0323

Maureen Jacob (M)

Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.

Valerio Rhodio (V)

Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.

Juliane Winkelmann (J)

Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.
DZPG, Deutsches Zentrum für Psychische Gesundheit, Munich, Germany.
ORCID: 0000-0002-3074-599X

Franziska Hopfner (F)

Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.
Department of Translational Brain Research, German Centre for Neurodegenerative Diseases, Munich, Germany.
Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
ORCID: 0000-0001-6524-0281

Michael Zech (M)

Institute of Human Genetics, Technical University of Munich, School of Medicine and Health, Munich, Germany.
Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.
Institute for Advanced Study, Technical University of Munich, Garching, Germany.
ORCID: 0000-0001-8112-9153

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Tremblement › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Examen physique › Faciès › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Microcéphalie › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations dentaires › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Maladies ostéomusculaires › Maladies osseuses › Dysplasies osseuses › Tremor-Dominant Movement Disorder in
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Tremor-Dominant Movement Disorder in