ArticleCerebellum & ataxias2016
Benign hereditary chorea, not only chorea: a family case presentation.
Article in Cerebellum & ataxias, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.
- Respiratory and other organ manifestations inFrontiers in medicine · 2025Pooled it
- International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2024Review
- Severe and Reversible Exacerbation of Primary Dystonia Associated With Hypothyroidism.Journal of clinical neurology (Seoul, Korea) · 2023Article
- Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.Neurogenetics · 2022Article
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 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
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBenign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14. CASE PRESENTATION: A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members.
conclusionsThis is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.
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