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Article

Mutations in TITF-1 are associated with benign hereditary chorea.

Human molecular genetics - 15 Apr 2002

Breedveld Guido J, van Dongen Jeroen W F, Danesino Cesare, Guala Andrea, Percy Alan K, Dure Leon S, Harper Peter, Lazarou Lazarus P, van der Linde Herma, Joosse Marijke, Grüters Annette, MacDonald Marcy E, de Vries Bert B A, Arts Willem Frans M, Oostra Ben A, Krude Heiko, Heutink Peter

Abstract excerpt

Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and patients have...

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Identifiers

PMID: 11971878
DOI: 10.1093/hmg/11.8.971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in TITF-1 are associated with benign hereditary chorea.PMID 11971878Read ↗

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Clinical and genetic heterogeneity in benign hereditary chorea.Semantic proximity Read ↗

A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.Semantic proximity Read ↗

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.Semantic proximity Read ↗

Hereditary benign chorea: clinical and genetic features of a distinct disease.Semantic proximity Read ↗

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.Semantic proximity Read ↗

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.Semantic proximity Read ↗

A novel TITF-1 mutation causes benign hereditary chorea with response to levodopaSemantic proximity Read ↗

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.Semantic proximity Read ↗

Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.Semantic proximity Read ↗

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.Semantic proximity Read ↗

Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene.Semantic proximity Read ↗

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