Article
Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.
Movement disorders : official journal of the Movement Disorder Society - 1 Jun 2005
Diepold Katharina, Schütz Barbara, Rostasy Kevin, Wilken Bernd, Hougaard Pia, Güttler Flemming, Romstad Anne, Birk Møller Lisbeth
Abstract excerpt
Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently. The main clinical manifestations are Segawa's disease, or infantile hypokinetic rigid Parkinsonism. Here, we report on a patient with hyperrigidity, psychomotor developmental delay, and dystonic posturing of the hands, symptoms that appeared after a viral infection at the age of 14...
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