ReviewCurrent opinion in neurology2016
Recent advances in genetics of chorea.
Review in Current opinion in neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- Update on Genetic Chorea.Current neurology and neuroscience reports · 2026Review
- Deutetrabenazine in Hyperkinetic Movement Disorders: VMAT2 Modulation From Choreiform Disorders to Hyperkinetic Dystonic Syndromes.Journal of central nervous system disease · 2026Review
- Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.Current issues in molecular biology · 2024Review
- Scoping Review on ADCY5-Related Movement Disorders.Movement disorders clinical practice · 2023Article
- The enduring enigma of sporadic chorea: A single center case series.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Online Databases of Genome Editing in Cardiovascular and Metabolic Diseases.Advances in experimental medicine and biology · 2023Article
- Novel Mutation in theMovement disorders clinical practice · 2021Article
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Challenges in Clinicogenetic Correlations: One Phenotype - Many Genes.Movement disorders clinical practice · 2021Review
- Novel Imaging Biomarkers for Huntington's Disease and Other Hereditary Choreas.Current neurology and neuroscience reports · 2018Review
- Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?Current neurology and neuroscience reports · 2018Review
- A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.Movement disorders : official journal of the Movement Disorder Society · 2018Article
- ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.Parkinsonism & related disorders · 2017Article
- Will New Genetic Techniques Like Exome Sequencing and Others Obviate the Need for Clinical Expertise? Yes.Movement disorders clinical practiceArticle
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 3 countries.
Funding
Abstract
purpose of reviewChorea presenting in childhood and adulthood encompasses several neurological disorders, both degenerative and nonprogressive, often with a genetic basis. In this review, we discuss how modern genomic technologies are expanding our knowledge of monogenic choreic syndromes and advancing our insight into the molecular mechanisms responsible for chorea. RECENT
findingsA genome-wide association study in Huntington's disease identified genetic disease modifiers involved in controlling DNA repair mechanisms and stability of the HTT trinucleotide repeat expansion. Chorea is the cardinal feature of newly recognized genetic entities, ADCY5 and PDE10A-related choreas, with onset in infancy and childhood. A phenotypic overlap between chorea, ataxia, epilepsy, and neurodevelopmental disorders is becoming increasingly evident. SUMMARY: The differential diagnosis of genetic conditions presenting with chorea has considerably widened, permitting a molecular diagnosis and an improved prognostic definition in an expanding number of cases. The identification of Huntington's disease genetic modifiers and new chorea-causing gene mutations has allowed the initial recognition of converging molecular pathways underlying medium spiny neurons degeneration and dysregulation of normal development and activity of basal ganglia circuits. Signalling downstream of dopamine receptors and control of cAMP levels represent a very promising target for the development of new aetiology-based treatments for chorea and other hyperkinetic disorders.
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