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Article

[Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].

Revista de neurologia - 16 May 2013

Salvado Maria, Boronat-Guerrero Susanna, Hernández-Vara Jorge, Álvarez-Sabin José

Abstract excerpt

INTRODUCTION: Chorea due to a mutation in the TITF1 gene, which is also known as benign hereditary chorea, is an autosomal dominant disorder that usually begins before the age of 5 years. In most cases, the chorea tends to improve as the child gets older. It may be associated to hypothyroidism an...

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PMID: 23658034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23658034-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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[Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family].PMID 23658034Read ↗

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 ↗

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

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with 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 ↗

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.Semantic proximity Read ↗

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Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.Semantic proximity Read ↗

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.Semantic proximity Read ↗

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