Article
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
Movement disorders : official journal of the Movement Disorder Society - 15 Jun 2010
Pons Roser, Serrano Mercedes, Ormazabal Aida, Toma Claudio, Garcia-Cazorla Angels, Area Estela, Ribasés Marta, Kanavakis Emmanuel, Drakaki Kaliopi, Giannakopoulos Aristotelis, Orfanou Irene, Youroukos Sotiris, Cormand Bru, Artuch Rafael
Abstract excerpt
We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Response to levodopa was...
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