Article
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.
Brain & development - 1 Mar 2012
Fons Carmen, Rizzu Patrizia, Garcia-Cazorla Angels, Martorell Loreto, Ormazabal Aida, Artuch Rafael, Campistol Jaume, Fernandez-Alvarez Emilio
Abstract excerpt
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...
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