Aylward E H, Brandt J, Codori A M, Mangus R S, Barta P E, Harris G J
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287-7362.
Neurology. 1994 May;44(5):823-8. doi: 10.1212/wnl.44.5.823.
Previous investigations using linear CT measures found no evidence of caudate atrophy in asymptomatic persons who have the DNA haplotype linked to the Huntington's disease (HD) gene. We measured volumes of the caudate, putamen, and globus pallidus on MRIs of 10 gene marker-positive and 18 gene marker-negative asymptomatic at-risk persons. The volumes of all basal ganglia structures were significantly reduced in the marker-positive group, even after controlling for age, total brain volume, and minor neurologic signs. Discriminant function analysis using basal ganglia volumes and age as predictor variables correctly identified genetic status in 86% of subjects. These results indicate that basal ganglia volume is reduced before individuals become symptomatic with HD.
先前使用线性CT测量的研究发现，在携带与亨廷顿舞蹈症（HD）基因相关的DNA单倍型的无症状个体中，没有尾状核萎缩的证据。我们对10名基因标记阳性和18名基因标记阴性的无症状高危个体进行了MRI检查，测量了他们尾状核、壳核和苍白球的体积。即使在控制了年龄、全脑体积和轻微神经体征后，标记阳性组中所有基底神经节结构的体积仍显著减小。以基底神经节体积和年龄作为预测变量的判别函数分析正确识别了86%受试者的基因状态。这些结果表明，在个体出现HD症状之前，基底神经节体积就已经减小。
