title: TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.
abstract: Benign hereditary chorea (BHC) is a rare autosomal dominant disorder characterized by non-progressive chorea of early onset, without other underlying progressive neurologic dysfunction. Hypothyroidism and pulmonary problems may also be associated. Recently, mutations in the thyroid transcription factor 1 gene (TITF-1), linked to chromosome 14q, have been related to this disorder. We describe the clinical phenotype and response to levodopa treatment in a 6 year-old girl affected with sporadic non-progressive chorea, and a de novo TITF-1 gene mutation, in order to increase understanding of this rare and misdiagnosed disorder.
authors.affiliation: Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona University, CIBER-ER, Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain. cfons@hsjdbcn.org
authors.forename: Carmen
authors.initials: C
authors.lastname: Fons
authors.forename: Patrizia
authors.initials: P
authors.lastname: Rizzu
authors.forename: Angels
authors.initials: A
authors.lastname: Garcia-Cazorla
authors.forename: Loreto
authors.initials: L
authors.lastname: Martorell
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazabal
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
authors.forename: Emilio
authors.initials: E
authors.lastname: Fernandez-Alvarez
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000188:drug therapy* / Q000235:genetics*; D015259:Dopamine Agents / Q000627:therapeutic use*; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D015259:Dopamine Agents; C000614412:NKX2-1 protein, human; D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors; D007980:Levodopa