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携带亨廷顿舞蹈症基因的英国症状前人群样本的认知表现。

Cognitive performance in UK sample of presymptomatic people carrying the gene for Huntington's disease.

作者信息

Blackmore L, Simpson S A, Crawford J R

机构信息

Department of Psychological Medicine, University of Glasgow, Gartnavel Royal Infirmary, UK.

出版信息

J Med Genet. 1995 May;32(5):358-62. doi: 10.1136/jmg.32.5.358.

DOI:10.1136/jmg.32.5.358
PMID:7616542
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050430/
Abstract

This paper presents an investigation of cognitive ability in 30 subjects at risk for Huntington's disease. Those shown to be at high or low risk for this disease are compared on a wide range of neuropsychological measures. Results indicate only one significant difference between the two groups; those who carry the gene show a higher level of performance on the Corsi Supraspan task. It is suggested, however, that minimal deficits are apparent in the at risk gene carrying group but that current measures of assessment are not sensitive enough to identify them.

摘要

本文对30名亨廷顿舞蹈症高危受试者的认知能力进行了研究。根据一系列广泛的神经心理学测量指标,对显示为该疾病高风险或低风险的受试者进行了比较。结果表明两组之间只有一个显著差异;携带该基因的受试者在Corsi超跨度任务中的表现水平更高。然而,研究表明,在携带风险基因的组中存在明显的轻微缺陷,但目前的评估方法不够灵敏,无法识别这些缺陷。