A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.
Neurology
; 64(11): 1952-4, 2005 Jun 14.
Article
em En
| MEDLINE
| ID: mdl-15955952
ABSTRACT
Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 (523G-->T, E175X) of the TITF-1 (Nkx2.1) gene. Four confirmed mutation carriers showed the typical movement disorder of BHC and congenital hypothyroidism. Surprisingly, treatment with levodopa improved gait dramatically and reduced chorea in two patients. Dopaminergic drugs should be considered a useful therapeutic option in BHC.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Proteínas Nucleares
/
Levodopa
/
Coreia
/
Códon sem Sentido
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Alemanha