遗传性脊髓小脑共济失调7型的临床研究

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。

The clinical study on hereditary spi nocerebellar ataxia 7

Aim SCA7is first identified associated with retina in SCAs.This study aims to investigate the clinical characteristic of here ditary spinocerebellar ataxia type 7(SCA7)in Chinese patients.Methods Pedi-gree analysis and related examinati ons such as MR scan,Funduscopy,ERG were performed in one families(23members including 8patients)which manifested cerebellar ataxia,loss of color discrimination,decreased visual acuity,etc.Results The family history compatible with a n autosomal dominant mode of inheritance.Gradual visual failure precedes cerebell ar ataxia by a few years in most patients.Pigmentary macular dystrophy present with blue-yellow blindness or blue b lindness is seen in this family,with out night blindness and hypophrenia.Conclusion Patients with SCA7in China present with a wide spectrum of clini cal phenotypes.