中国神经精神疾病杂志
中國神經精神疾病雜誌
중국신경정신질병잡지
CHINESE JOURNAL OF NERVOUS AND MENTAL DISEASES
2014年
4期
202-208
,共7页
李洁亮%孙筱放%周伯荣%何文智%何文茵%范勇%魏君%朱德途
李潔亮%孫篠放%週伯榮%何文智%何文茵%範勇%魏君%硃德途
리길량%손소방%주백영%하문지%하문인%범용%위군%주덕도
脊髓小脑共济失调3型%临床特征%核磁共振成像%临床异质性
脊髓小腦共濟失調3型%臨床特徵%覈磁共振成像%臨床異質性
척수소뇌공제실조3형%림상특정%핵자공진성상%림상이질성
Spinocerebellar ataxia 3%Clinical manifestation%Magnetic resonance imaging%Clinical heterogeneity
目的:分析一个脊髓小脑共济失调3型家系患者临床特征,探讨脊髓小脑共济失调3型(spinocere-bellar ataxia 3, SCA3)疾病家族临床异质性,为临床医生早期正确诊断疾病提供依据。方法通过聚合酶链反应及毛细管电泳片段分析确诊一个SCA3家系,详细记录患者临床特征,并对其进行汇总分析,部分患者行头颅MRI检测及眼底检查。结果此SCA3家系共18例临床患者,12例症状前患者。除经典的小脑系统症状外,其中3例还表现为智力障碍,1例伴随颈椎病,1例早期出现肌张力障碍,1例视觉系统障碍,7例植物神经机能障碍表现。部分患者MRI检测结果显示不同程度桥脑小脑萎缩,眼底检测未见明显改变。结论在同一家系中, SCA3也具有明显的临床异质性。建议当一个家系中同时存在小脑系统、视觉系统、植物神经系统障碍,颈椎病,智力障碍时,需考虑SCA3型可能。
目的:分析一箇脊髓小腦共濟失調3型傢繫患者臨床特徵,探討脊髓小腦共濟失調3型(spinocere-bellar ataxia 3, SCA3)疾病傢族臨床異質性,為臨床醫生早期正確診斷疾病提供依據。方法通過聚閤酶鏈反應及毛細管電泳片段分析確診一箇SCA3傢繫,詳細記錄患者臨床特徵,併對其進行彙總分析,部分患者行頭顱MRI檢測及眼底檢查。結果此SCA3傢繫共18例臨床患者,12例癥狀前患者。除經典的小腦繫統癥狀外,其中3例還錶現為智力障礙,1例伴隨頸椎病,1例早期齣現肌張力障礙,1例視覺繫統障礙,7例植物神經機能障礙錶現。部分患者MRI檢測結果顯示不同程度橋腦小腦萎縮,眼底檢測未見明顯改變。結論在同一傢繫中, SCA3也具有明顯的臨床異質性。建議噹一箇傢繫中同時存在小腦繫統、視覺繫統、植物神經繫統障礙,頸椎病,智力障礙時,需攷慮SCA3型可能。
목적:분석일개척수소뇌공제실조3형가계환자림상특정,탐토척수소뇌공제실조3형(spinocere-bellar ataxia 3, SCA3)질병가족림상이질성,위림상의생조기정학진단질병제공의거。방법통과취합매련반응급모세관전영편단분석학진일개SCA3가계,상세기록환자림상특정,병대기진행회총분석,부분환자행두로MRI검측급안저검사。결과차SCA3가계공18례림상환자,12례증상전환자。제경전적소뇌계통증상외,기중3례환표현위지력장애,1례반수경추병,1례조기출현기장력장애,1례시각계통장애,7례식물신경궤능장애표현。부분환자MRI검측결과현시불동정도교뇌소뇌위축,안저검측미견명현개변。결론재동일가계중, SCA3야구유명현적림상이질성。건의당일개가계중동시존재소뇌계통、시각계통、식물신경계통장애,경추병,지력장애시,수고필SCA3형가능。
Objective To analysis the clinical manifestations of a large Spinocerebellar Ataxia 3 pedigree to pro-vide the information for the early diagnosis of Ataxia 3. Methods SCA3/ATXN3 gene was determined by using Poly-merase Chain Reaction and fragment analysis in the large pedigree members and patients ’clinical data was collected. Five patients underwent MRI imaging and fundus examination. Results There were eighteen clinical patients and twelve ATXN3 carriers in this Pedigree . In addition to ataxia, three patients presented with intellectual disability, one with cer-vical spondylosis, one with dysmyotonia, one with disorder in visual system, and seven with abnormality in autonomic ner-vous system. The MRI revealed that pons and cerebellar atrophy in some patients inordinately. Undus examination did not reveal any obvious abnormality. Conclusions The symptoms of SCA3 are heterogeneous in the same pedigree. When patients present with symptoms of cerebellar system, visual system and autonomic nervous system, or cervical spondylosis and intellectual disability, SCA3 should be considered.