它是不准确的状态,我们“等同时代的汽车出现疾病进展的速度。”In our study, the age at which HD motor symptoms are manifest offers a direct measure of the rate of the pathogenic process up to that point. That the length of the expanded CAG repeat is tightly correlated with age at onset indicates that the mutation's effects are the primary determinant of this particular rate. On the other hand, "progression", as referred to by Aziz et al., represents an examination of serial clinical measurements on the same individuals, and therefore typically refers to phenotypes that occur after onset. It has previously been shown that many measures of progression show little if any correlation with the length of the expanded CAG repeat, indicating that other factors are the primary determinants of the rate of progression of any particular clinical measurement or of severity scores based upon them. We previously reported the absence of any significant correlation of the expanded CAG repeat length on duration of disease, as measured by the time from motor onset to death (and therefore not biased by studying primarily living subjects). [1] We have not examined the shorter HD CAG repeat for any specific measures of progression and therefore cannot exclude it as a factor in this process, which is clearly distinct from the process that leads to motor onset.
我们感谢阿齐兹等人的兴趣研究[1],但觉得需要一些澄清。他们是正确的,我们的研究是专门针对确定短CAG重复等位基因在高清有重大影响,单独或相互作用的时间越长,扩大等位基因,年龄的运动干扰,表现型认为诊断的障碍,是清单。这个表型代表一个点在一个漫长的致病过程引发的扩大CAG重复。有其他不那么HD-specific表型可能显示高清个人,包括认知和行为障碍,并为其他表型,可想而知,较短的CAG重复等位基因可能是一个修改因素。然而,这样的修改影响必须采取行动一步发病机制并不重要的致病途径导致运动开始。因此,这个问题应该通过研究检查给定表型的发病年龄,而不是研究一个人口的年龄出现电机、认知或行为症状并不相互区别。
它是不准确的状态,我们“等同时代的汽车出现疾病进展的速度。”In our study, the age at which HD motor symptoms are manifest offers a direct measure of the rate of the pathogenic process up to that point. That the length of the expanded CAG repeat is tightly correlated with age at onset indicates that the mutation's effects are the primary determinant of this particular rate. On the other hand, "progression", as referred to by Aziz et al., represents an examination of serial clinical measurements on the same individuals, and therefore typically refers to phenotypes that occur after onset. It has previously been shown that many measures of progression show little if any correlation with the length of the expanded CAG repeat, indicating that other factors are the primary determinants of the rate of progression of any particular clinical measurement or of severity scores based upon them. We previously reported the absence of any significant correlation of the expanded CAG repeat length on duration of disease, as measured by the time from motor onset to death (and therefore not biased by studying primarily living subjects). [1] We have not examined the shorter HD CAG repeat for any specific measures of progression and therefore cannot exclude it as a factor in this process, which is clearly distinct from the process that leads to motor onset.
最后,我们的论文表明,使用基因型的极端的不恰当的统计模式会导致假阳性结果,可以产生重大影响的时间、精力和资金花费在假线索。它并不否认极端个人的潜在价值,而只是表明,需要另一个模式的分析得出明确的结论从这些个人。
1。Gusella摩根富林明,Persichetti F,麦克唐纳我。基因缺陷导致亨廷顿氏舞蹈症:重复在其他上下文?摩尔医学。1997;3:238 - 246。PubMed PMID: 9131586;PubMed Central PMCID: PMC2230063。
披露的信息,请通过journal@neurology.org联系编辑部。首页