Article
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.
Annals of neurology - 1 Oct 2007
Verbeek Marcel M, Steenbergen-Spanjers Gerry C H, Willemsen Michèl A A P, Hol Frans A, Smeitink Jan, Seeger Jürgen, Grattan-Smith Padraic, Ryan Monique M, Hoffmann Georg F, Donati Maria A, Blau Nenad, Wevers Ronald A
Abstract excerpt
Tyrosine hydroxylase (TH) deficiency (OMIM 191290) is one cause of early-onset dopa-responsive dystonia. We describe seven cases from five unrelated families with dopa-responsive dystonia and low homovanillic acid in cerebrospinal fluid who were suspected to suffer from TH deficiency. Analysis of part of the TH promotor showed five homozygous and two heterozygous mutations in the highly conserved cyclic adenosine...
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