Basal ganglia volume and proximity to onset in presymptomatic Huntington disease
Basal ganglia volume and proximity to onset in presymptomatic Huntington disease
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DOI：
10.1001/archneur.1996.00550120105023
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发表时间：
1996-12-01
影响因子：
--
通讯作者：
Brandt, J
中科院分区：
文献类型：
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作者：
Aylward, EH;Codori, AM;Brandt, J
目的：为了确定携带亨廷顿病基因突变的前驱个体是否接近估计的发病年龄与磁共振成像扫描测量的基底神经节体积相关。设计：调查研究涉及基底神经节体积之间的相关性，对受试者状态进行盲测，并估计受试者的发病年龄。亨廷顿氏病症状前测试项目在约翰霍普金斯大学医学院，巴尔的摩，马里兰州患者和其他参与者：受试者包括47名有亨廷顿病风险的个体（即，亨廷顿病患者的后代）。20名受试者的基因突变检测呈阳性，但没有症状。27名受试者测试negative.Main结果测量：估计发病年龄计算为每个20个基因阳性的个人使用经验得出的公式的基础上，受试者的三核苷酸重复序列长度和父母的发病年龄。每个受试者在磁共振成像扫描时的年龄从他或她的估计发病年龄中减去，得到估计的发病年数。尾状核，壳核，苍白球的MRI scannes.Results：控制后的受试者的年龄在扫描的时候，显着的相关性，发现所有基底神经节结构的体积和年发病之间。基因阳性受试者在发病前较远处的基底神经节体积比基因阴性受试者小，除了苍白球。基因阳性受试者谁是接近发病体积小于基因阴性受试者的所有基底神经节结构和体积小于受试者远离发病的所有结构，除caudate.Conclusions：结果表明，基底神经节萎缩逐渐发生，开始前几年症状发作。
Objective: 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.Design: Survey study involving correlations between basal ganglia volume, measured blind to subject status, and estimation of subjects' age at onset.Setting: Huntington's Disease Presymptomatic Testing Program at The Johns Hopkins University School of Medicine, Baltimore, Md.Patients and Other Participants: Subjects included 47 individuals at risk for Huntington disease (ie, offspring of patients with Huntington disease). Twenty subjects tested positive for the gene mutation but were not symptomatic. Twenty-seven subjects tested negative.Main Outcome Measures: 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.Results: 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.Conclusions: The results suggest that atrophy of the basal ganglia occurs gradually, beginning years before symptom onset.