ReviewTremor and other hyperkinetic movements (New York, N.Y.)2015
Benign Hereditary Chorea: An Update.
Review in Tremor and other hyperkinetic movements (New York, N.Y.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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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
25 citing papers in PubMed, 29 citations in OpenAlex.
- Update on Genetic Chorea.European journal of neurology · 2025Review
- Bilateral deep brain stimulation (DBS) of globus pallidus internus (GPi) for the treatment of benign hereditary chorea and other childhood onset choreas: a single-center experience.Neurosurgical review · 2024Article
- Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.Current issues in molecular biology · 2024Review
- The First Indian Patient With Benign Hereditary Chorea due to a De Novo Mutation in the NKX2-1 Gene.Journal of movement disorders · 2024Article
- NK2 homeobox gene cluster: Functions and roles in human diseases.Genes & diseases · 2023Review
- Article
- A case of brainZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.Frontiers in neurology · 2022Article
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Review of Hereditary and Acquired Rare Choreas.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused byMovement disorders clinical practice · 2019Article
- A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?Child neurology open · 2019Article
- Genetic basis for childhood interstitial lung disease among Japanese infants and children.Pediatric research · 2018Article
- NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.Frontiers in genetics · 2018Article
- NKX2-1 Is Required in the Embryonic Septum for Cholinergic System Development, Learning, and Memory.Cell reports · 2017Article
- A Case of Previously Unsuspected Huntington Disease Diagnosed at Autopsy.Academic forensic pathology · 2017Article
- The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate.Tremor and other hyperkinetic movements (New York, N.Y.) · 2017Article
- Recent advances in genetics of chorea.Current opinion in neurology · 2016Review
- De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.American journal of human genetics · 2016Article
- Benign hereditary chorea, not only chorea: a family case presentation.Cerebellum & ataxias · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with little progression of motor symptoms into adult life. The disorder is caused by mutations to the NKX2.1 (TITF1) gene and also forms part of the "brain-lung-thyroid syndrome", in which additional developmental abnormalities of lung and thyroid tissue are observed. In this review, we summarize the main clinical findings in "classical" BHC syndrome and discuss more recently reported atypical features, including non-choreiform movement phenotypes. We highlight additional non-motor characteristics such as cognitive impairment and psychiatric symptoms, while discussing the evidence for BHC as a developmental disorder involving impaired neural migration and other multisystem developmental abnormalities. Finally, we will discuss the efficacy of available therapies in both affected pediatric and adult cohorts. Delineation of the BHC disease spectrum will no doubt expand our understanding of this disorder, facilitating better targeting of genetic testing and establish a framework for future clinical trials.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.