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Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation
Author(s) -
Pons Roser,
Serrano Mercedes,
Ormazabal Aida,
Toma Claudio,
GarciaCazorla Angels,
Area Estela,
Ribasés Marta,
Kanavakis Emmanuel,
Drakaki Kaliopi,
Giannakopoulos Aristotelis,
Orfanou Irene,
Youroukos Sotiris,
Cormand Bru,
Artuch Rafael
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.23002
Subject(s) - parkinsonism , tyrosine hydroxylase , levodopa , haplotype , mutation , phenotype , snp , cerebrospinal fluid , dopamine , medicine , endocrinology , tyrosine 3 monooxygenase , genetics , pediatrics , biology , parkinson's disease , single nucleotide polymorphism , disease , gene , genotype
Abstract 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. © 2010 Movement Disorder Society