Clinical characteristics and gene mutation analysis of hereditary spinocerebellar ataxia type 7: a study of 2 Chinese families

VernacularTitle:两遗传性脊髓小脑型共济失调7型家系的临床特征和基因突变研究
Author: Hai-Ying ZHU ¹ ; Ying-Wen MA ; Guang-Kun FENG ; Qin-Zhou WANG ; Jian-Zhong BI
Author Information

1. 山东大学附属第二医院
Keywords: Spinocerebellar ataxia; Allele; Trinucleotide repeat; Retinal pigmental degeneration
From: Chinese Journal of Neuromedicine 2010;09(10):1042-1044
CountryChina
Language:Chinese
Abstract: Objective To study the clinical characteristics and gene mutation of hereditary spinocerebellar ataxia type 7 (SCA7). Methods The regions of SCA 7 gene containing CAG repeat were amplified by means of PCR and agarose gelelectrophoresis (AGE) technique in 26 patients and 37 normal family members from 5 families with autosomal dominant SCA. The abnormal allele fragments were sequenced by DNA sequencing machine. The correlation between clinical manifestations and CAG repeat size in SCA 7 gene product was analyzed. Results The patients carried 44-50 repeated CAG in the SCA7 allele of 2 SCA 7 gene families with main clinical manifestations as ataxia, hypopsia and retinal pigmental degeneration. About 10-30 repeated CAGs in the SCA7 allele were seen in other healthy members. Conclusion Expanded triplet repeats in SCA 7 gene contributes to the pathologic phenotype,and molecular genetic analysis is effective in the diagnosis and differentiation of SCA 7 gene.