Campodonico J R, Codori A M, Brandt J
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-7218, USA.
J Neurol Neurosurg Psychiatry. 1996 Dec;61(6):621-4. doi: 10.1136/jnnp.61.6.621.
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 length. As a group, clinically asymptomatic adults with the Huntington's disease mutation do not 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.
本研究调查了携带亨廷顿舞蹈症突变的无症状成年人是否会随着时间推移出现神经心理学变化。我们还评估了认知测试得分或心理症状量表得分是否会因CAG重复序列长度或距疾病发作的时间而有所不同。22名健康的“突变阳性”成年人和37名“突变阴性”成年人在其基因检测结果披露前完成了认知测试和心理评定量表，此后每年进行一次。重复测量方差分析用于分析两组在三次评估中的差异。计算了认知和心理症状测试得分与估计疾病发作年限和CAG重复序列长度之间的相关性。两组在研究开始时没有差异；随着时间的推移，两组在变化率上也没有差异。持续注意力和心理速度测试与估计疾病发作年限相关，但与重复序列长度无关。总体而言，携带亨廷顿舞蹈症突变的临床无症状成年人在两年的研究期间未表现出神经心理学缺陷。然而，可能接近亨廷顿舞蹈症临床发作的人在达到诊断阈值之前，可能会在某些认知领域出现轻微缺陷。
