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目的探讨脊髓小脑小济失调(SCA)2型、3型患者的基因突变特点及临床表型。方法总结4个 SCAS 家系的9例患者和1例散发患者的临床表现,对全部患者、43名家系成员及60名健康对照,采用 PCR、荧光 PCR、毛细管电泳等技术检测分析 SCA2、3基因内 CAG 三核苷酸重复序列的长度及拷贝数。结果 3个家系中的6例患者、1例散发患者存在 SCA3/MJD(CAG)n 扩展突变,CAG重复数为68～75次;1个家系的3例患者存在 SCA2(CAG)n 扩展突变,CAG 重复数为39～41次。两型患者的临床表现有重叠之处,但在发病年龄、病程进展、神经系统受累部位等方面有明显差异。结论 SCA3/MJD 型与 SCA2型在临床表现上存在一定差异性,有助于鉴别和分型,但基因检测是明确诊断的惟一方法。
Objective To investigate the gene mutation characteristics and clinical phenotypes of sporadic cerebellar ataxia (SCA) type 2 and type 3 patients. Methods The clinical manifestations of 9 SCAS pediatric patients and 1 sporadic patients were summarized. All patients, 43 pedigrees and 60 healthy controls were analyzed by PCR, fluorescence PCR and capillary electrophoresis. CAG trinucleotide repeat length and copy number. Results The SCA3 / MJD (CAG) n extended mutation was found in 6 out of 3 pedigrees and in 1 outpatient. The number of CAG repeats was 68-75 times. Three SCA2 (CAG) n mutations were found in one of the three pedigrees, CAG repeat number of 39 to 41 times. Two types of patients with clinical manifestations overlap, but in the age of onset, duration of progress, nervous system involvement sites have significant differences. Conclusion The clinical manifestations of SCA3 / MJD and SCA2 are different, which is helpful to identify and type SCA3 / SCD. However, genetic testing is the only way to confirm the diagnosis.