脊髓小脑性共济失调3型一家系报道

目的 探讨脊髓小脑性共济失调(spinocerebellar ataxia, SCA)3型(SCA3)的临床特点。方法 收集1例2016年6月在济宁医学院附属医院神经内科住院的SCA3患者及其家系的临床资料,基因检测明确家系分型,结合文献分析家系中的临床差异。结果 患者23岁发病,临床表现为行走不稳伴进行性下肢无力,肌张力正常,水平性诱发眼震,无跌倒及吟诗性语言,闭目难立征阳性,呈宽基底步态,双侧巴氏征未引出,腹壁反射减低,膝反射及跟腱反射活跃,深浅感觉未见异常。基因检测提示患者ATXN3基因CAG重复次数79次(正常人范围在12～44次),超过正常范围,患者其它(ATXN1、ATXN2、CACNA1A、ATXN7、ATXN8、PPP2R2B、TBP)基因的CAG重复次数均在正常范围内。患者的55岁父亲、6岁女儿及4岁儿子的ATXN3基因的CAG重复数分别为65、73、71次,超过正常范围,但均未发病。患者母亲ATXN3基因的CAG重复数29次,属正常范围,未见临床症状。结论 本例家系是SCA3型,具有临床异质性,基因检测有助于诊断。

A report of a family with spinocerebellar ataxia 3

ObjectiveTo explore the clinical features of spinocerebellar ataxia 3(SCA3).Methods Clinical data of proband and his family members with SCA3 were collected in the Department of Neurology. Affiliated Hospital of Jining Medical College from June 2016, and clinical heterogeneity was analyzed in conjunction with the literature.Results The propositus with the disease were at the age of 23. There were walking instability associated with progressively lower limbs weakness, normal muscle tone, provocative level nystagmus, without falling and poetry language, rombergism established positive sign, a broader base gait, pap sign on both sides did not elicit, reducing abdominal wall reflection, while knee jerk and Achilles tendon reflex becoming active, shades feeling no exception in the clinical manifestation. ATXN3 gene in patients with genetic testing results indicated that the CAG repeat times were 79(normal range in 12～44), which was more than the normal range, the other(ATXN1, ATXN2, CACNA1A, ATXN7, ATXN8, PPP2R2B, TBP)gene of the CAG repeat times were within the normal range. ATXN3 gene of the CAG repeat number from the propositus 55 years old father, 6 years old daughter and 4 years old son were 65, 73, 71 respectively, which were also more than the normal range, but all of them had no disease. Mother ATXN3 genes of the patient with the CAG repeat number showed 29 which fell within the normal range, and she had no clinical symptoms.Conclusion This family was the type of SCA3, and the result had been the clinical heterogeneity, while the gene detection technology could be useful for diagnosis.