Neuropsychological stability over two years in asymptomatic carriers of the Huntington's disease mutation
Neuropsychological stability over two years in asymptomatic carriers of the Huntington's disease mutation
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DOI：
10.1136/jnnp.61.6.621
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发表时间：
1996-12-01
影响因子：
11
通讯作者：
Brandt, J
中科院分区：
文献类型：
--
作者：
Campodonico, JR;Codori, AM;Brandt, J
这项研究检测了患有亨廷顿病突变的无症状成年人是否会随着时间的推移而出现神经心理变化。我们还评估了认知测试或心理症状量表的分数是否随着CAG重复长度或疾病发生的距离而变化。22名健康的“突变阳性”成年人和37名((突变阴性))成年人在公布基因测试结果之前和之后每年完成认知测试和心理评定量表。重复测量ANOVAS分析两组在三个评估上的差异；计算认知和心理症状测试分数与疾病开始和CAG重复长度的估计年数的相关性。这两组人在研究开始时没有不同；随着时间的推移，他们的变化速度也没有不同。持续注意力和思维速度的测试与疾病开始的估计年限相关，但与重复方法的长度无关。作为一个群体，没有临床症状的亨廷顿病突变成年人在两年的间隔时间内进行研究时，确实表现出神经心理缺陷。然而，那些可能接近亨廷顿病临床发作的人，可能会在达到诊断阈值之前，在选定的认知领域出现轻微缺陷。
This study examined whether neuropsychological changes emerge over time in asymptomatic adults who have the Huntington's disease mutation. We also evaluated whether scores on cognitive tests or psychological symptom scales varied as a function of CAG repeat length or proximity to disease onset. Twenty two healthy ''mutation positive'' and 37 ((mutation negative)) adults completed cognitive tests and psychological rating scales before disclosure of their genetic test results and on an annual basis thereafter. Repeated measures ANOVAs analysed differences between the two groups over three assessments; Correlations of cognitive and psychological symptom test scores with estimated number of years to disease onset and CAG repeat length were computed. The two groups did not differ at study entry; nor did they differ in the rate of change over time. Tests of sustained attention and mental speed correlated with estimated years to disease onset, but not with repeat Method length. As a group, clinically asymptomatic adults with Huntington's disease mutation do display neuropsychological deficits when studied over a two year interval. However, persons who are likely nearing clinical onset of Huntington's disease may develop minor deficits in selected cognitive domains before they reach threshold for diagnosis.