Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.

Roser Pons, Mercedes Serrano, Aida Ormazabal, Claudio Toma, Angels Garcia-Cazorla, Estela Area, Marta Ribasés, Emmanuel Kanavakis, Kaliopi Drakaki, Aristotelis Giannakopoulos, Irene Orfanou, Sotiris Youroukos, Bru Cormand, Rafael Artuch

文献索引：Mov. Disord 25(8) , 1086-90, (2010)

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摘要

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 favorable though not dramatic. All patients were homozygous for a previously reported mutation (p.L236P). SNP haplotype analysis was consistent with a common ancestral mutation, thus indicating a founder effect in Greek patients with TH deficiency.(c) 2010 Movement Disorder Society.