中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2013年
3期
148-152
,共5页
王琳%万新华%成伏波%杨英麦%马凌燕%崔丽英
王琳%萬新華%成伏波%楊英麥%馬凌燕%崔麗英
왕림%만신화%성복파%양영맥%마릉연%최려영
张力失调%DNA结合蛋白质类%核蛋白质类%凋亡调节蛋白质类%突变%磁共振成像
張力失調%DNA結閤蛋白質類%覈蛋白質類%凋亡調節蛋白質類%突變%磁共振成像
장력실조%DNA결합단백질류%핵단백질류%조망조절단백질류%돌변%자공진성상
Dystonia%DNA-binding proteins%Nuclear proteins%Apoptosis regulatory proteins%Mutation%Magnetic resonance imaging
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.
目的 分析DYT6型肌張力障礙患者的臨床資料,總結DYT6型肌張力障礙的臨床錶現和影像學特點.方法 對北京協和醫院2009年6月至2012年5月經基因檢查證實的11例DYT6型肌張力障礙患者進行迴顧性分析,包括性彆、起病年齡、起病部位、病變分佈、傢族史等資料.所有患者均進行瞭常規頭部MRI檢查,6例患者進行瞭DTI檢查.結果 11例經基因檢查證實的DYT6型肌張力障礙患者中,男性7例,女性4例,起病年齡5 ～ 36歲,平均19.4歲.8例患者有傢族史.早髮型肌張力障礙10例,晚髮型肌張力障礙1例.最常見的起病部位為頸部,共7例,其次為右上肢起病.病變受纍部位1～5箇,平均2.8箇,其中10例患者頸部受纍,其次為下麵部、下頜和舌部.6例患者錶現為節段型肌張力障礙,4例患者為跼竈型肌張力障礙,1例為全身型肌張力障礙.基因突變影響THAP(thanatos-associated protein domain-containing apoptosis-associated protein)結構域的患者均有傢族史,雖基因突變相同但臨床錶現各異,影響非THAP結構域的4例患者中隻有1例有傢族史,多數傢族中髮現成年突變基因攜帶者.影響THAP結構域的患者平均起病年齡小于影響非THAP結構域的患者(分彆為17.3歲與21.8歲).所有患者常規MRI檢查正常,DTI檢查示雙側感覺運動區部分各嚮異性降低.1例患者同時存在DYT1和DYT6型肌張力障礙基因改變.結論 DYT6型肌張力障礙以早髮型為主,頸部是最常見的起病部位,其次為右上肢.病變部位以頸部為主,下麵部、下頜和舌受纍相對常見.未髮現喉部肌張力障礙.具有相同基因突變的患者臨床錶現具有明顯異質性,影響THAP結構域者傾嚮于更早的髮病年齡和更高的外顯率.DTI示部分各嚮異性降低提示感覺運動區神經纖維的完整性或連續性可能受損.
목적 분석DYT6형기장력장애환자적림상자료,총결DYT6형기장력장애적림상표현화영상학특점.방법 대북경협화의원2009년6월지2012년5월경기인검사증실적11례DYT6형기장력장애환자진행회고성분석,포괄성별、기병년령、기병부위、병변분포、가족사등자료.소유환자균진행료상규두부MRI검사,6례환자진행료DTI검사.결과 11례경기인검사증실적DYT6형기장력장애환자중,남성7례,녀성4례,기병년령5 ～ 36세,평균19.4세.8례환자유가족사.조발형기장력장애10례,만발형기장력장애1례.최상견적기병부위위경부,공7례,기차위우상지기병.병변수루부위1～5개,평균2.8개,기중10례환자경부수루,기차위하면부、하합화설부.6례환자표현위절단형기장력장애,4례환자위국조형기장력장애,1례위전신형기장력장애.기인돌변영향THAP(thanatos-associated protein domain-containing apoptosis-associated protein)결구역적환자균유가족사,수기인돌변상동단림상표현각이,영향비THAP결구역적4례환자중지유1례유가족사,다수가족중발현성년돌변기인휴대자.영향THAP결구역적환자평균기병년령소우영향비THAP결구역적환자(분별위17.3세여21.8세).소유환자상규MRI검사정상,DTI검사시쌍측감각운동구부분각향이성강저.1례환자동시존재DYT1화DYT6형기장력장애기인개변.결론 DYT6형기장력장애이조발형위주,경부시최상견적기병부위,기차위우상지.병변부위이경부위주,하면부、하합화설수루상대상견.미발현후부기장력장애.구유상동기인돌변적환자림상표현구유명현이질성,영향THAP결구역자경향우경조적발병년령화경고적외현솔.DTI시부분각향이성강저제시감각운동구신경섬유적완정성혹련속성가능수손.
Objective 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.
