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.

doi:10.1136/jnnp-2012-302505

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Article

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.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2012

Gras Domitille, Jonard Laurence, Roze Emmanuel, Chantot-Bastaraud Sandra, Koht Jeanette, Motte Jacques, Rodriguez Diana, Louha Malek, Caubel Isabelle, Kemlin Isabelle, Lion-François Laurence, Goizet Cyril, Guillot Loic, Moutard Marie-Laure, Epaud Ralph, Héron Bénédicte, Charles Perrine, Tallot Marilyn, Camuzat Agnès, Durr Alexandra, Polak Michel, Devos David, Sanlaville Damien, Vuillaume Isabelle, Billette de Villemeur Thierry, Vidailhet Marie, Doummar Diane

Abstract excerpt

BACKGROUND: Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterised by childhood onset that tends to improve in adulthood. The associated gene, NKX2-1 (previously called TITF1), is essential for organogenesis of the basal ganglia, thyroid and lungs. The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large...

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PMID: 22832740
DOI: 10.1136/jnnp-2012-302505

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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