脊髓小脑性共济失调12型一家系的临床特征和基因突变分析  

Clinical characteristics and gene mutation of a Chinese family with spinocerebellar ataxia type 12

作　　者：陈江瑛[1] 闫振文[2] 何锐[1] 喻长顺[3] 张素平[1] 

机构地区：[1]暨南大学医学院第四附属医院广州市红十字会医院神经内科,广东广州510220 [2]中山大学孙逸仙纪念医院神经科,广东广州510120 [3]广州金域医学检验中心有限公司,广东广州510330

出　　处：《中风与神经疾病杂志》2014年第11期995-997,共3页Journal of Apoplexy and Nervous Diseases

基　　金：广州市中医药;中西医结合科研课题(2009A25);广东省中医药局科研立项(A2010020);广州市卫生局一般引导项目(20131A011047);广东省医学科研基金立项(编号A2013506)

摘　　要：目的 研究1个遗传性共济失调12型（spinocerebellar ataxia type 12 SCA12）家系的临床特征与基因突变特点。方法 应用聚合酶链反应、毛细管电泳等方法对1个临床诊断为遗传性共济失调的家系进行SCA基因检测。结果 确定该家系为遗传性共济失调SCA12型家系。共确诊7例现证患者,患者异常CAG的重复次数为51-55次。结论 上肢震颤,逐渐出现共济失调、延髓麻痹,病理征阳性为SCA12型相对独特的临床表现。先证者异常片段CAG重复为55次,第3代患者Ⅲ2 CAG重复次数54次,发病年龄提前,可能存在遗传早现现象。SCAs核苷酸突变扩展的数目与年龄呈负相关,与症状严重程度呈正相关的特点可能也存在于SCA12型中。Objective To characterize the clinical characteristics and the gene mutation of a spinocerebellar ataxia 12 （SCA12）family. Methods Florescence PCR-capillary electrophoresis was used to detected the SCA gene in the family. Results Molecular analysis demonstrated the pathological expansions in the SCA12 gene,with 51-55 CAG repeats in seven confirmed patients. Conclusion Action tremor of arms,progressive ataxia,bulboparalysis and positive pyramidal tract signs are the prominent feature of SCA12. The 55 CAG repeats of the proband and the 54 CAG repeats of the lII2 patient suggested possible anticipation. The expanded triplet repeats number of SCA12 is possibly negatively related with age, while positively related with symptoms.

关 键 词：脊髓小脑性共济失调 三核苷酸重复扩增 突变分析 

分 类 号：R744[医药卫生—神经病学与精神病学]