摘要目的 分析DYT6型肌张力障碍患者的临床资料,总结DYT6型肌张力障碍的临床表现和影像学特点.方法 对北京协和医院2009年6月至2012年5月经基因检查证实的11例DYT6型肌张力障碍患者进行回顾性分析,包括性别、起病年龄、起病部位、病变分布、家族史等资料.所有患者均进行了常规头部MRI检查,6例患者进行了DTI检查.结果 11例经基因检查证实的DYT6型肌张力障碍患者中,男性7例,女性4例,起病年龄5 ～ 36岁,平均19.4岁.8例患者有家族史.早发型肌张力障碍10例,晚发型肌张力障碍1例.最常见的起病部位为颈部,共7例,其次为右上肢起病.病变受累部位1～5个,平均2.8个,其中10例患者颈部受累,其次为下面部、下颌和舌部.6例患者表现为节段型肌张力障碍,4例患者为局灶型肌张力障碍,1例为全身型肌张力障碍.基因突变影响THAP(thanatos-associated protein domain-containing apoptosis-associated protein)结构域的患者均有家族史,虽基因突变相同但临床表现各异,影响非THAP结构域的4例患者中只有1例有家族史,多数家族中发现成年突变基因携带者.影响THAP结构域的患者平均起病年龄小于影响非THAP结构域的患者(分别为17.3岁与21.8岁).所有患者常规MRI检查正常,DTI检查示双侧感觉运动区部分各向异性降低.1例患者同时存在DYT1和DYT6型肌张力障碍基因改变.结论 DYT6型肌张力障碍以早发型为主,颈部是最常见的起病部位,其次为右上肢.病变部位以颈部为主,下面部、下颌和舌受累相对常见.未发现喉部肌张力障碍.具有相同基因突变的患者临床表现具有明显异质性,影响THAP结构域者倾向于更早的发病年龄和更高的外显率.DTI示部分各向异性降低提示感觉运动区神经纤维的完整性或连续性可能受损.

abstractsObjective To summarize the clinical and radiological features of DYT6 dystonia with mutations based on the data of our patient cohort as well as the report by others.Methods Clinical data of the 11 patients with DYT6 dystonia in Peking Union Medical College Hospital from June 2009 to May 2012 were retrospectively reviewed and analyzed.Clinical data included gender,onset age,initiative symptom of onset,the sites of involvemet,family history,etc.All patients were examined for brain MRI scan,6 patients were examined for DTI.Results Of the eleven gene-confirmed DYT6 dystonia patients,7 were male and 4 were female,with an onset-age ranged from 5 years to 36 years,the mean age of onset was 19.4years.Eight patients had a family history.There were 10 patients with early onset dystonia and only 1 patient with late onset dystonia.The most common site of onset was the neck (7/11),and the next was the right arm,1-5 body areas were affected at the time of neurological assessment,the average amount was 2.8,and the most frequently affected anatomical site was the neck (10/11),next came lower face,jaw and tongue.Among all the patients,6 patients presented with segmental dystonia,4 patients presented with focal dystonia,only 1 patient presented with generalized dystonia.All the patients with thanatos-associated protein domain-containing apoptosis-associated protein (THAP) domain affected had a family history,but the patients with the same mutant gene varied with clinical manifestation.Only 1 patients with non-THAP domain affected had a family history,but in most families,there were adult asymptomatic mutant gene carriers.Mutations within the THAP domain were associated with an earlier age of onset than non-THAP domain (17.3 and 21.8 years old).Routine MRI of all patients were normal and DTI of 6 patients showed that fractional anisotropy values in the bilateral sensorimotor area in DYT6 dystonia were reduced.A detailed description of a patient with TOR1A and THAP1 gene mutations was given.Conclusions Early onset dystonia is the main manifestation in patients with DYT6 dystonia in China.The most common site of onset is the neck,and the next is the right arm.The most frequently affected anatomical site is the neck,next come lower face,jaw and tongue.Laryngeal dystonia is absent.The patients with same mutant gene show high heterogeneity in the clinical manifestations,mutations within the THAP domain of THAP1 tend to manifest at an earlier age and higher penetration than mutations localized to non-THAP domain.Reduction of fractional anisotropy values indicates that the axonal integrity and coherence in the region of sensorimotor area is damaged in DYT6 dystonia.