Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation

被引：16

作者：

Pons, Roser ^{[1
]}

Serrano, Mercedes ^{[2
,3
]}

Ormazabal, Aida ^{[2
,3
]}

Toma, Claudio ^{[4
]}

Garcia-Cazorla, Angels ^{[2
,3
]}

Area, Estela ^{[5
]}

Ribases, Marta ^{[6
]}

Kanavakis, Emmanuel ^{[1
]}

Drakaki, Kaliopi ^{[1
]}

Giannakopoulos, Aristotelis ^{[1
]}

Orfanou, Irene ^{[1
]}

Youroukos, Sotiris ^{[1
]}

Cormand, Bru ^{[4
]}

Artuch, Rafael ^{[2
,3
]}

机构：

[1] Univ Athens, Agia Sofia Hosp, Dept Pediat 1, Athens 11527, Greece

[2] St Joan de Deu Hosp, Ctr Biomed Res Rare Dis CIBERER, Dept Neuropediat, Barcelona, Spain

[3] St Joan de Deu Hosp, Ctr Biomed Res Rare Dis CIBERER, Dept Clin Biochem, Barcelona, Spain

[4] Univ Barcelona, Dept Genet, Inst Biomed, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain

[5] Columbia Univ, Dept Neurol, New York, NY USA

[6] Vall dHebron Univ Hosp, Dept Psychiat, Barcelona, Spain

来源：

MOVEMENT DISORDERS | 2010年 / 25卷 / 08期

关键词：

tyrosine hydroxylase; infantile parkinsonism; oculogyric crisis; autonomic dysfunction; founder effect; DOPA-RESPONSIVE DYSTONIA; ACID DECARBOXYLASE DEFICIENCY; POINT MUTATION; CLINICAL-FEATURES; GENE; ENCEPHALOPATHY; PARKINSONISM; DIAGNOSIS;

D O I：

10.1002/mds.23002

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

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

引用

页码：1086 / 1090

页数：5

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