【摘要】 目的探讨齿状核红核苍白球路易体萎缩症(dentatorubral-pallidoluysian atrophy, DRPLA)患者的临床特征和基因突变特点。方法选取2005年8月1日至2017年6月30日中日友好医院神经科运动障碍与神经遗传性疾病研究中心收集的1 689例临床拟诊为脊髓小脑共济失调(spinocerebellar ataxias, SCA)的病例,采用聚合酶链反应(polymerase chain reaction, PCR)结合荧光标记毛细管电泳片段分析方法,对患者进行ATN1基因三核苷酸CAG(cytosine-adenineguanine)重复序列检测,并对阳性患者的表型与基因突变相关性进行分析。结果 6例患者携带异常扩增的ATN1基因CAG重复序列,临床表现各异,除以共济失调为主要症状,另伴有癫痫、肌张力障碍、不自主运动及下肢痉挛状态等特殊表型。发病年龄(37.17±11.14)岁,ATN1基因CAG重复序列平均(56.00±2.28)个,Pearson相关分析显示二者呈负相关(r=-4.385,P=0.015)。结论 DRPLA在中国人群中罕见;国人DRPLA表型复杂多变,CAG重复次数与发病年龄呈负相关,与病情的严重程度呈正相关。更多还原

【Abstract】 Objective To investigate the clinical features and genetic mutations of dentatorubral-pallidoluysian atrophy(DRPLA). Methods The cytosine-adenine-guanine(CAG) repeats of ATN1 gene were detected by polymerase chain reaction(PCR) and capillary electrophoresis in 1689 spinocerebellar ataxia cases. The correlation between phenotypes and expanded CAG repeats in the ATN1 gene of patients were studied carefully. Results The expanded CAG repeats in the ATN1 gene was detected in 6 cases. The clinical phenotypes were varied, in addition to ataxia, patients also presented epilepsy, dysmyotonia, involuntary movement and spasticity of the lower limbs. The average age of onset was(37.17±11.14) years old, and the average CAG repeat number of ATN1 gene was 56.00 ±2.28.Pearson correlation analysis showed that the age of onset was significantly and negatively correlated with the CAG repeat number(r =-4.385,P = 0.015). Conclusions DRPLA is a relatively rare subtype of SCA in Chinese population. The number of CAG repeats is negatively correlated with the age of onset and positively correlated with the severity of the disease.更多还原