Automatic detection of preclinical neurodegeneration Presymptomatic Huntington disease
Automatic detection of preclinical neurodegeneration Presymptomatic Huntington disease
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DOI：
10.1212/01.wnl.0000341768.28646.b6
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发表时间：
2009-02-03
期刊：
影响因子：
9.9
通讯作者：
Frackowiak, R. S. J.
中科院分区：
文献类型：
--
作者：
Kloeppel, S.;Chu, C.;Frackowiak, R. S. J.
背景：神经退行性疾病的治疗可能在退行性疾病的非常早期，可能是临床前阶段最有益。我们探讨了全自动结构MRI分类方法检测细微退行性变化的有用性。一个明确的基因检测亨廷顿病（HD）的可用性提供了一个很好的衡量标准来判断这种方法在基因突变携带者谁是免费的symptoms.Methods的性能：使用MRI扫描的灰质段，本研究探讨了有用的多变量支持向量机自动识别前驱HD基因突变携带者（PSC）在没有任何先验信息。研究了96例PSC和95例年龄和性别匹配对照的多中心数据集。PSC组被细分为三个组的基础上，从预测的临床发病的时间，估计是一个功能的DNA突变的大小和age.Results：主题与至少有33%的机会，发展明确的迹象HD在5年内被正确分配到PSC组69%的时间。当事先选择受疾病影响的区域进行分析时，准确率提高到83%。结论：基于单次解剖学扫描，无需额外的先验信息，即可成功分离出接近诊断起始期的症状前亨廷顿病基因突变携带者和对照组。当退行性改变是细微的或可变的时，需要先前的信息以允许分离。神经病学（R）2009;72：426-431
Background: Treatment of neurodegenerative diseases is likely to be most beneficial in the very early, possibly preclinical stages of degeneration. We explored the usefulness of fully automatic structural MRI classification methods for detecting subtle degenerative change. The availability of a definitive genetic test for Huntington disease (HD) provides an excellent metric for judging the performance of such methods in gene mutation carriers who are free of symptoms.Methods: Using the gray matter segment of MRI scans, this study explored the usefulness of a multivariate support vector machine to automatically identify presymptomatic HD gene mutation carriers (PSCs) in the absence of any a priori information. A multicenter data set of 96 PSCs and 95 age- and sex-matched controls was studied. The PSC group was subclassified into three groups based on time from predicted clinical onset, an estimate that is a function of DNA mutation size and age.Results: Subjects with at least a 33% chance of developing unequivocal signs of HD in 5 years were correctly assigned to the PSC group 69% of the time. Accuracy improved to 83% when regions affected by the disease were selected a priori for analysis. Performance was at chance when the probability of developing symptoms in 5 years was less than 10%.Conclusions: Presymptomatic Huntington disease gene mutation carriers close to estimated diagnostic onset were successfully separated from controls on the basis of single anatomic scans, without additional a priori information. Prior information is required to allow separation when degenerative changes are either subtle or variable. Neurology (R) 2009;72:426-431