Article
Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.
Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2006
Bauer Peter, Kreuz Friedmar R, Bürk Katrin, Saft Carsten, Andrich Jürgen, Heilemann Hubert, Riess Olaf, Schöls Ludger
Abstract excerpt
Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or...
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