LONGITUDINAL NEUROPSYCHOLOGICAL AND GENETIC-LINKAGE ANALYSIS OF PERSONS AT RISK FOR HUNTINGTONS-DISEASE
LONGITUDINAL NEUROPSYCHOLOGICAL AND GENETIC-LINKAGE ANALYSIS OF PERSONS AT RISK FOR HUNTINGTONS-DISEASE
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DOI：
10.1001/archneur.1995.00540250063014
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发表时间：
1995-01-01
影响因子：
--
通讯作者：
YOUNG, AB
中科院分区：
文献类型：
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作者：
GIORDANI, B;BERENT, S;YOUNG, AB
目的：确定（1）亨廷顿病遗传标记阳性（AR/+）或阴性（AR/-）的亨廷顿病风险（AR）健康个体的神经心理学特征是否与有症状的亨廷顿病患者和正常对照个体不同，以及（2）在4年的时间跨度内，两个AR组的神经心理学表现是否在三次评估中彼此不同。设计：病例对照、双盲研究，通过遗传连锁分析确定AR状态（G8探针），除了检查大多数AR受试者的三核苷酸重复之外。设置：密歇根大学医学中心精神病学系和神经病学系的神经心理学项目，安阿伯，参与者：8名受试者在年龄、性别和教育程度上尽可能匹配，分为以下各组：AR/+、AR/-、正常对照和亨廷顿病。测量：一系列神经心理学任务，包括智力、记忆、解决问题和运动能力的测量。结果：尽管两个AR组在选择的智力子测试上相对于正常受试者表现出变异性，但在4年的时间跨度内，他们在三项评估上没有差异。与亨廷顿舞蹈病的患者表现更差，比其他群体在一系列的neuropsychological measurements.Conclusions：这些结果不支持以前的评估结论，AR/+个人表现出认知障碍与AR/-个人相比。在早期研究中发现，与正常对照组相比，AR个体（包括儿童）的表现较低，但没有遗传连锁分析，这可能与干扰智力发育的外部环境和家族问题有关。
Objective: To determine (1) whether the neuropsychological profiles of healthy individuals at risk (AR) for Huntington's disease who were positive (AR/+) or negative (AR/-) for the Huntington's disease genetic marker differed from those of symptomatic patients with Huntington's disease and normal control individuals and (2) whether the neuropsychological performance of the two AR groups differed from each other on three assessments during a 4-year span.Design: Case-control, double-blind study, with AR status determined by genetic linkage analysis (G8 probe), in addition to examination of trinucleotide repeats for most AR subjects.Setting: The Neuropsychology Program in the Department of Psychiatry and the Department of Neurology at the University of Michigan Medical Center, Ann Arbor, a tertiary care center.Participants: Eight subjects matched as closely as possible for age, gender, and education in each of the following groups: AR/+, AR/-, normal control, and Huntington's disease.Measures: A battery of neuropsychological tasks, including measures of intelligence, memory, problem solving, and motor ability.Results: Although both AR groups demonstrated variability on select intellectual subtests relative to normal subjects, they did not differ from each other on the three assessments during a 4-year span. Patients with Huntington's disease performed more poorly than the other groups across a range of neuropsychological measures.Conclusions: These results do not support previous evaluations concluding that AR/+ individuals demonstrate cognitive impairments as compared with AR/- individuals. Findings in earlier studies without genetic linkage analysis of lower performance of AR individuals, including children, as compared with normal controls may relate to extraneous environmental and familial issues that interfere with intellectual development.