Gilles de la Tourette syndrome (GTS) is a kind of neuropsychiatric disorder with childhood onset. The cognitive dysfunction caused by GTS could affect the growth and learning of children and adolescents. The mechanism of cognitive functions was associated with dopaminergic system, thus we access the associations between polymorphism of some dopaminergic system-related genes including Catechol-O-methyltransferase (COMT) met/val, Dopamine receptor D4 (DRD4) exon III 48 bp VNTR (variable number of tandem repeats), Interleukin 1 (IL-1) Ra 86 bp and IL-1β exon 5, and cognitive functions in GTS patients. Genotyping analysis was performed through polymerase chain reaction (PCR). Test for cognitive functions of GTS patients included modified wisconsin card sorting test (WCST), trail making test, visual reproduction test, stroop test and verbal fluency test. The patients with COMT met/met genotype showed less perseverative errors in modified WCST test compared with patients with COMT val/val genotype (P < 0.05). Meanwhile, patients without allele val had better delayed memory in visual reproduction test, less errors in the stroop test and less perseverative errors in modified WCST test compared with patients with allele val (P < 0.05). However, no significant difference was found in cognitive functions among patients with different genotypes or alleles of polymorphisms of DRD4 exon III 48 bp VNTR, IL-1 Ra 86 bp and IL-1β exon 5 (P > 0.05). Polymorphism of COMT met/val was correlated with cognitive functions in GTS patients. This study provided basis for the analysis of molecular genetic pathology of cognitive dysfunctions in GTS.

目的:观察丙戊酸镁与利培酮治疗老年期痴呆激越行为的疗效及安全性。方法:于2003-12/2005-12选择新乡医学院第二附属医院老年科住院及门诊患者中符合中国精神疾病分类与诊断标准的阿尔茨海默病及血管性痴呆患者87例。以接诊先后顺序编号分为两组,单号为丙戊酸镁组（n=43）,双号为利培酮组（n=44）。丙戊酸镁组予以0.2g/d,1次/d,口服。视病情情况在1周内将丙戊酸镁加至0.6～0.8g/d,2次/d,口服。利培酮组予0.5mg/d,1次/d,口服。亦视病情情况在1周内将利培酮加至1～2mg/d,2次/d,口服。疗效评定采用CohanMansfield激越行为量表,临床总体疗效评定量表。安全性和药物不良反应评定采用药物副反应量表,于治疗开始前及治疗2,4,6,8周末各评定1次。以治疗前后CohanMansfield激越行为量表总分减分率为疗效指标标准,8周末减分率＞50%为显效。以治疗末临床总体疗效评定量表等级变化分析治疗前后两组间的差异。血常规,尿常规,肝功能组合,心电图于实验开始前和治疗2,4,6,8周末各检查1次。结果:两组患者均完成治疗和量表评定,全部进入结果分析。①丙戊酸镁组总有效率65%,利培酮组总有效率68%,两组比较差异无显著性意义。②治疗后两组激越行为量表较治疗前有显著下降,至第8周末激越行为量表评分与治疗前比较差异有显著性意义（P＜0.01）,但治疗后两组激越行为量表评分差异无显著性意义（P＞0.05）。丙戊酸镁组临床总体疗效评定量表由治疗前（5.27±0.93）分下降至（2.13±1.18）分,利培酮组由治疗前（5.26±0.89）分下降至（1.98±1.10）分,差异均有非常显著意义（P＜0.01）。③丙戊酸镁组不良反应表现为恶心呕吐、食欲下降、嗜睡、头晕等。多在服药前2周出现,以后逐渐减轻。利培酮组不良反应表现为锥体外系副反应、食欲减退、口干、嗜睡、便秘等。两组不良反应发生率差异无显著性意义（25.58%,27.27%,P＞0.05）。结论:丙戊酸镁和利培酮均能很好控制痴呆患者的激越行为,随着治疗的进展,丙戊酸镁不良反应越来越轻,较之利培酮有较好的依从性。