ArticleMovement disorders : official journal of the Movement Disorder Society2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Article in Movement disorders : official journal of the Movement Disorder Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders.Annals of clinical and translational neurology · 2026Article
- Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies.Movement disorders clinical practice · 2026Review
- International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.Brain : a journal of neurology · 2026Article
- Advances in Genetic Discoveries in Cerebral Palsy: Implications for Diagnosis, Prognosis, and Counseling.Current neurology and neuroscience reports · 2026Review
- Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.Epilepsia · 2026Article
- Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.Journal of clinical medicine · 2025Review
- Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Insights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders.Current neurology and neuroscience reports · 2025Review
- Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies.Biomolecules · 2025Review
- Gnao1 is a molecular switch that regulates the Rho signaling pathway in differentiating neurons.Scientific reports · 2024Article
- Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.Toxins · 2024Review
- Next-generation sequencing and bioinformatics in rare movement disorders.Nature reviews. Neurology · 2024Review
- Diverse WGBS profiles of longissimus dorsi muscle in Hainan black goats and hybrid goats.BMC genomic data · 2023Article
- Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders.Brain sciences · 2023Article
- A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Article
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- Video-EEG polygraphy in the clinical characterization of hyperkinetic movement disorders: a tertiary referral cohort.Frontiers in neurologyArticle
- Phenomenology and clinical relevance of minor neurological signs in child neurology and psychiatry.Frontiers in neurologyReview
Corrections and comments
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Authors and funding
26 authors at 16 institutions in 8 countries.
Funding
Abstract
BACKGROUND AND
objectiveThe objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders.
methodsPatients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria.
resultsOne hundred forty patients with pathogenic variants in 17 different genes (ADCY5, ATP1A3, DDC, DHPR, FOXG1, GCH1, GNAO1, KMT2B, MICU1, NKX2.1, PDE10A, PTPS, SGCE, SLC2A1, SLC6A3, SPR, and TH) were identified. In the majority, hyperkinetic movements were generalized (77%), with most patients (69%) manifesting combined motor semiologies. Parkinsonism-dystonia was characteristic of primary neurotransmitter disorders (DDC, DHPR, PTPS, SLC6A3, SPR, TH); chorea predominated in ADCY5-, ATP1A3-, FOXG1-, NKX2.1-, SLC2A1-, GNAO1-, and PDE10A-related disorders; and stereotypies were a prominent feature in FOXG1- and GNAO1-related disease. Those with generalized hyperkinetic movements had an earlier disease onset than those with focal/segmental distribution (2.5 ± 0.3 vs. 4.7 ± 0.7 years; P = 0.007). Patients with developmental delay also presented with hyperkinetic movements earlier than those with normal neurodevelopment (1.5 ± 2.9 vs. 4.7 ± 3.8 years; P < 0.001). Effective disease-specific therapies included dopaminergic agents for neurotransmitters disorders, ketogenic diet for glucose transporter deficiency, and deep brain stimulation for SGCE-, KMT2B-, and GNAO1-related hyperkinesia.
conclusionsThis study highlights the complex phenotypes observed in children with genetic hyperkinetic movement disorders that can lead to diagnostic difficulty. We provide a comprehensive analysis of motor semiology to guide physicians in the genetic investigation of these patients, to facilitate early diagnosis, precision medicine treatments, and genetic counseling. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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