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.
Artículo
en Chino
| 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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Fenotipo
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Dopaminérgicos
/
Levodopa
/
China
/
Factores Sexuales
/
Reacción en Cadena de la Polimerasa
/
Resultado del Tratamiento
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Niño
/
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Pediatrics
Año:
2006
Tipo del documento:
Artículo
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