CAJ | 학술논문

目的探讨浙江沿海脊髓小脑性共济失调的基因突变检测与临床表现.方法对该家系18例患者的临床表现、头颅MRI等辅助检查资料分析,并与10名家系中未发病成员及12名非血缘的健康人进行SCA31MJD基因CAG三核苷酸重复数目比较.结果家系18例患者均为SCA3/MJD型,同时检测出家系中未发病对照组有2例为SCA31MJD型基因携带者.产物测序结果家系对照组与健康对照组CAG重复数为14～27次;SCA患者CAG重复数为67～82次;SCA3/MJD携带者CAG重复数为28～45次.在现存三代18例患者中,每代均有患者,男女均受累,起病年龄平均38岁,以行走不稳、动作笨拙和言语含糊为突出表现,MRI检测结果小脑、脑干明显萎缩.结论在我国沿海存在SCA3/MJD家系遗传.临床均以共济失调和构音障碍为突出,CAG重复数目检测可为基因诊断和症状前诊断提供依据.
목적 탐토절강연해척수소뇌성공제실조적기인돌변검측여림상표현.방법 대해가계18례환자적림상표현、두로MRI등보조검사자료분석,병여10명가계중미발병성원급12명비혈연적건강인진행SCA31MJD기인CAG삼핵감산중복수목비교.결과 가계18례환자균위SCA3/MJD형,동시검측출가계중미발병대조조유2례위SCA31MJD형기인휴대자.산물측서결과가계대조조여건강대조조CAG중복수위14～27차;SCA환자CAG중복수위67～82차;SCA3/MJD휴대자CAG중복수위28～45차.재현존삼대18례환자중,매대균유환자,남녀균수루,기병년령평균38세,이행주불은、동작분졸화언어함호위돌출표현,MRI검측결과소뇌、뇌간명현위축.결론 재아국연해존재SCA3/MJD가계유전.림상균이공제실조화구음장애위돌출,CAG중복수목검측가위기인진단화증상전진단제공의거.
Objective To study the clinical features and gene mutation analysis in Machado-Joseph disease of spinocerebellar ataxia type 3 in littoral of Zhejiang. Methods Clinical manifestation and brain MRI data 18 patients with SCA in family were analyged. The gene mutations of 18 patients and 10 family numbers without abnormal presentation,and 12 healthy persons of controls. Results The gene mutations of 18 patients is SCA3/ MJD,and 2 asymptomatic SCA3/MJD had been detected in SCA family. Normal alleles of SCA3/MJD have CAG repeats ranging from 14 to 27, patients from 67 to 82, asymptomatic and carrier SCA3/MJD from 28 to 45. The main features of 18 patients included gait ataxia, ambiguity in speech and action clumsiness. Brain MRI showed remarkable atrophy on cerebellum and brain stem. Conclusion CAG expansions were related to SCA3/MJD.The clinical manifestations are ataxia and dysarthria. The detection of repeated times CAG can provide an effective way for the genetic and asymptomatic diagnosis.