MovDisordV3, Main, Exploration, bibRecord, 001C73

GCH1 mutation and clinical study of Chinese patients with dopa‐responsive dystonia

Identifieur interne : 001C73 ( Main/Exploration ); précédent : 001C72; suivant : 001C74

GCH1 mutation and clinical study of Chinese patients with dopa‐responsive dystonia

Auteurs : Xin Liu [République populaire de Chine] ; Shu-Shan Zhang [République populaire de Chine] ; Deng-Fu Fang [République populaire de Chine] ; Ming-Yi Ma [République populaire de Chine] ; Xiao-Yan Guo [République populaire de Chine] ; Yuan Yang [République populaire de Chine] ; Hui-Fang Shang [République populaire de Chine]

Source :

Movement Disorders [ 0885-3185 ] ; 2010-03-15.

RBID : ISTEX:C8595B901AA28ADF142CDB9C1E323E466C12CDE3

English descriptors

KwdEn :
- Adolescent, Adult, Asian Continental Ancestry Group (genetics), Asian Continental Ancestry Group (statistics & numerical data), Child, Child, Preschool, DNA Mutational Analysis, DNA Primers (genetics), Dopamine Agonists (administration & dosage), Dopamine Agonists (therapeutic use), Dystonia (drug therapy), Dystonia (ethnology), Dystonia (genetics), Exons (genetics), Female, GCH1 gene, GTP Cyclohydrolase (genetics), Humans, Infant, Levodopa (administration & dosage), Levodopa (therapeutic use), Male, Pedigree, Point Mutation (genetics), Polymerase Chain Reaction, Young Adult, clinical feature, dopa‐responsive dystonia.
MESH :
- chemical , administration & dosage : Dopamine Agonists, Levodopa.
- chemical , genetics : DNA Primers, GTP Cyclohydrolase.
- drug therapy : Dystonia.
- ethnology : Dystonia.
- genetics : Asian Continental Ancestry Group, Dystonia, Exons, Point Mutation.
- statistics & numerical data : Asian Continental Ancestry Group.
- chemical , therapeutic use : Dopamine Agonists, Levodopa.
- Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, Female, Humans, Infant, Male, Pedigree, Polymerase Chain Reaction, Young Adult.

Abstract

Dopa‐responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (GCH1). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the GCH1 gene was screened by direct sequencing. Additionally, multiplex ligation‐dependent probe amplification (MLPA) assay targeting the GCH1 and the TH gene to evaluate large exon deletion or duplicate mutation of the genes were performed in point mutation‐negative patients. Ten sporadic DRD patients and two pedigrees including six patients were included in the study. The onset age ranged from 3 to 15 years old. All patients initially presented with walking problems due to lower limb dystonia. The delay between onset and diagnosis ranged from 1 to 42 years old. The symptoms were completely or near‐completely abolished with low dose levodopa treatment (dosages ranged from 25 mg to 400 mg/day). Direct sequencing in 14 patients found two known mutations (Gly203Arg in exon 5 in four unrelated patients and Met102Lys in exon 1 in one patient) and one new mutation (Thr186Ile mutation in exon 5 in two unrelated pedigrees). A heterozygous exon 2 deletion in the GCH1 gene was found in one of three point mutation‐negative patients by MLPA analysis. Our clinical findings in DRD patients were consistent with other studies. GCH1 gene mutations were quite common in Chinese patients. MPLA should be performed in routine deletion analysis of GCH1 in point mutation‐negative DRD patients. © 2010 Movement Disorder Society

Url:

https://api.istex.fr/document/C8595B901AA28ADF142CDB9C1E323E466C12CDE3/fulltext/pdf

DOI: 10.1002/mds.22976

Affiliations:

République populaire de Chine

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<front><div type="abstract" xml:lang="en">Dopa‐responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (GCH1). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the GCH1 gene was screened by direct sequencing. Additionally, multiplex ligation‐dependent probe amplification (MLPA) assay targeting the GCH1 and the TH gene to evaluate large exon deletion or duplicate mutation of the genes were performed in point mutation‐negative patients. Ten sporadic DRD patients and two pedigrees including six patients were included in the study. The onset age ranged from 3 to 15 years old. All patients initially presented with walking problems due to lower limb dystonia. The delay between onset and diagnosis ranged from 1 to 42 years old. The symptoms were completely or near‐completely abolished with low dose levodopa treatment (dosages ranged from 25 mg to 400 mg/day). Direct sequencing in 14 patients found two known mutations (Gly203Arg in exon 5 in four unrelated patients and Met102Lys in exon 1 in one patient) and one new mutation (Thr186Ile mutation in exon 5 in two unrelated pedigrees). A heterozygous exon 2 deletion in the GCH1 gene was found in one of three point mutation‐negative patients by MLPA analysis. Our clinical findings in DRD patients were consistent with other studies. GCH1 gene mutations were quite common in Chinese patients. MPLA should be performed in routine deletion analysis of GCH1 in point mutation‐negative DRD patients. © 2010 Movement Disorder Society</div>
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Movement Disorders (revue)

GCH1 mutation and clinical study of Chinese patients with dopa‐responsive dystonia

GCH1 mutation and clinical study of Chinese patients with dopa‐responsive dystonia

Source :

English descriptors

Abstract

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	Movement Disorders (revue)
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