学术投稿

遗传性脊髓小脑共济失调7型的临床研究

韩燕;郑惠民;丁素菊;蒋建明;余龙;黄兴华;马丽杰

关键词:视网膜炎, 色素性, 脊髓小脑共济失调, 体征和症状, 系谱
摘要:目的遗传性脊髓小脑共济失调 7型( SCA7)是 SCA系列中首个确定累及视网膜的疾病,该研究探讨中国 SCA7的临床特点.方法对一个表现为视力下降、辩色力异常和共济失调的 SCA7家系 23例成员( 8例患者)进行了系统的家系调查、体格检查及头颅 MR、眼底照相、视觉诱发电位、视网膜电流图等有关的辅助检查,结合国内外文献总结 SCA7临床特点.结果该家系为常染色体显性遗传,多数患者视力损害先于共济失调,存在视网膜色素变性 , 为蓝-黄色盲或蓝色盲,无夜盲,无智能减退.结论中国 SCA7患者临床表型存在多样性.
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中国组织工程研究杂志

中国组织工程研究杂志

主管:中华人民共和国卫生部

主办:中国康复医学会,《中国组织工程研究与临床康复》杂志社