Clinical analysis of dopa-responsive dystonia and mutation analysis of the GCH I gene / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 492-495, 2006.
Article
em Zh
| WPRIM
| ID: wpr-278673
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical characteristics and GCH I gene mutations in patients with dopa-responsive dystonia (DRD).</p><p><b>METHODS</b>The clinical features of 3 families with 6 affected members and 8 sporadic cases were analyzed to determine the clinical characteristics, and 2 families with 4 affected members and 2 sporadic cases were screened for mutations of the GCH I gene.</p><p><b>RESULTS</b>Age at onset was (10 +/- 3) years. Onset occurred earlier in female (9 +/- 4) years than in male (12 +/- 1) years. The initial symptom was a gait disorder, dystonia or tremor in most patients and nine patients (64%) presented with diurnal fluctuation. Thirteen patients (93%) were cured and one was improved after administration of low doses of levodopa for 3 months and no long-term side effects of levodopa had occurred. Two independent mutations were found in three patients. Gln161Pro, a new missense mutation, was found in a sporadic case, leading to a relatively severe phenotype. The two patients with mild phenotype in one family were found to have Lys224Arg mutation, as previously described.</p><p><b>CONCLUSIONS</b>DRD patients have diverse phenotypes and diurnal fluctuation is an important feature. They have dramatic and sustained response to levodopa. There may be a correlation between genotype and phenotype. The detection of GCH I mutations is helpful in early diagnosis of non-typical cases.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Linhagem
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Fenótipo
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Análise Mutacional de DNA
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Dados de Sequência Molecular
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Dopaminérgicos
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Levodopa
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China
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Fatores Sexuais
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Reação em Cadeia da Polimerase
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Resultado do Tratamento
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Child
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Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2006
Tipo de documento:
Article