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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.
Artigo em Chinês | WPRIM | ID: wpr-278673
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>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Fenótipo / Análise Mutacional de DNA / Dados de Sequência Molecular / Dopaminérgicos / Levodopa / China / Fatores Sexuais / Reação em Cadeia da Polimerase / Resultado do Tratamento Tipo de estudo: Estudo diagnóstico / Estudo de rastreamento Limite: Criança / Feminino / Humanos / Masculino País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Pediatrics Ano de publicação: 2006 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Fenótipo / Análise Mutacional de DNA / Dados de Sequência Molecular / Dopaminérgicos / Levodopa / China / Fatores Sexuais / Reação em Cadeia da Polimerase / Resultado do Tratamento Tipo de estudo: Estudo diagnóstico / Estudo de rastreamento Limite: Criança / Feminino / Humanos / Masculino País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Pediatrics Ano de publicação: 2006 Tipo de documento: Artigo