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[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 and respiratory problems, such as neonatal alveolar respiratory distress syndrome or interstitial disease, since TITF1 is...

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PMID: 23658034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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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 ↗

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 ↗

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

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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