Aylward E H, Codori A M, Barta P E, Pearlson G D, Harris G J, Brandt J
Division of Psychiatric Neuroimaging, Johns Hopkins University School of Medicine, Baltimore, Md, USA.
Arch Neurol. 1996 Dec;53(12):1293-6. doi: 10.1001/archneur.1996.00550120105023.
To determine in presymptomatic individuals who carry the gene mutation for Huntington disease whether proximity to estimated age at onset is associated with volume of basal ganglia, as measured on magnetic resonance imaging scans.
Survey study involving correlations between basal ganglia volume, measured blind to subject status, and estimation of subjects' age at onset.
Huntington's Disease Presymptomatic Testing Program at The Johns Hopkins University School of Medicine, Baltimore, Md.
Subjects included 47 individuals at risk for Huntington disease (ie, off-spring of patients with Huntington disease). Twenty subjects tested positive for the gene mutation but were not symptomatic. Twenty-seven subjects tested negative.
Estimated age at onset was calculated for each of 20 gene-positive individuals using an empirically derived formula based on the subject's trinucleotide repeat length and parental age at onset. Each subject's age at the time of the magnetic resonance imaging scan was subtracted from his or her estimated age at onset, yielding estimated years to onset. Volumes of caudate, putamen, and globus pallidus were measured on magnetic resonance imaging scans.
After controlling for the subject's age at the time of the scan, significant correlations were found between volumes of all basal ganglia structures and years to onset. Gene-positive subjects who were far from onset had smaller basal ganglia volumes than gene-negative subjects for all structures except globus pallidus. Gene-positive subjects who were close to onset had smaller volumes than gene-negative subjects for all basal ganglia structures and had smaller volumes than subjects far from onset for all structures except caudate.
The results suggest that atrophy of the basal ganglia occurs gradually, beginning years before symptom onset.
对于携带亨廷顿病基因突变的症状前个体，确定接近预计发病年龄是否与磁共振成像扫描测量的基底神经节体积相关。
调查研究，涉及对基底神经节体积（测量时对受试者状态不知情）与受试者发病年龄估计值之间的相关性研究。
马里兰州巴尔的摩市约翰霍普金斯大学医学院亨廷顿病症状前检测项目。
受试者包括47名有患亨廷顿病风险的个体（即亨廷顿病患者的后代）。20名受试者基因突变检测呈阳性但无症状。27名受试者检测呈阴性。
使用基于受试者三核苷酸重复长度和父母发病年龄凭经验得出的公式，为20名基因阳性个体分别计算预计发病年龄。用每个受试者的预计发病年龄减去其磁共振成像扫描时的年龄，得出预计发病年数。在磁共振成像扫描上测量尾状核、壳核和苍白球的体积。
在控制扫描时受试者年龄后，发现所有基底神经节结构的体积与发病年数之间存在显著相关性。对于除苍白球外的所有结构，距离发病时间远的基因阳性受试者的基底神经节体积小于基因阴性受试者。对于所有基底神经节结构，接近发病的基因阳性受试者的体积小于基因阴性受试者，并且对于除尾状核外的所有结构，其体积小于距离发病时间远的受试者。
结果表明基底神经节萎缩是逐渐发生的，在症状出现前数年就已开始。
