Xie Hui, Wu Zhi-ying, Wang Ning, Li Zhi-wen, Lin Min-ting, Murong Shen-xing
Department of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, China.
Zhonghua Er Ke Za Zhi. 2006 Jul;44(7):492-5.
To investigate the clinical characteristics and GCH I gene mutations in patients with dopa-responsive dystonia (DRD).
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.
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.
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.
探讨多巴反应性肌张力障碍（DRD）患者的临床特征及GCH I基因突变情况。
分析3个家系的6例患者及8例散发患者的临床特征以确定其临床特点，并对2个家系的4例患者及2例散发患者进行GCH I基因突变筛查。
发病年龄为（10±3）岁。女性发病年龄（9±4）岁早于男性（12±1）岁。多数患者初始症状为步态障碍、肌张力障碍或震颤，9例患者（64%）有日间波动现象。13例患者（93%）在给予小剂量左旋多巴治疗3个月后治愈，1例改善，且未出现左旋多巴的长期副作用。3例患者中发现2种独立的突变。在1例散发患者中发现新的错义突变Gln161Pro，导致相对严重的表型。在1个家系中2例表型较轻的患者发现有先前报道的Lys224Arg突变。
DRD患者具有多样的表型，日间波动是其重要特征。他们对左旋多巴有显著且持续的反应。基因型与表型之间可能存在相关性。GCH I基因突变的检测有助于非典型病例的早期诊断。
