CAG重复次数与马查多-约瑟夫病中脑干和小脑萎缩的速率相关。

CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease.

作者信息

Abe Y, Tanaka F, Matsumoto M, Doyu M, Hirayama M, Kachi T, Sobue G

机构信息

Department of Neurology, Nagoya University School of Medicine, Japan.

出版信息

Neurology. 1998 Sep;51(3):882-4. doi: 10.1212/wnl.51.3.882.

DOI:10.1212/wnl.51.3.882

PMID:9748049

Abstract

We compared the CAG repeat length and the severity of the brainstem and cerebellar atrophy visualized by MRI in 30 patients with Machado-Joseph disease. We found a strong correlation between the CAG repeat number and the quotient of the degree of atrophy divided by age at examination. These results suggest that the rate of disease progression is dependent on the CAG repeat size and disease progression may commence at birth.

摘要

我们比较了30例马查多-约瑟夫病患者的CAG重复序列长度以及通过磁共振成像（MRI）显示的脑干和小脑萎缩的严重程度。我们发现CAG重复序列数量与萎缩程度除以检查时年龄的商之间存在强相关性。这些结果表明，疾病进展速率取决于CAG重复序列的大小，且疾病进展可能在出生时就已开始。