Rothlind J C, Brandt J, Zee D, Codori A M, Folstein S
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Md 21205.
Arch Neurol. 1993 Aug;50(8):799-802. doi: 10.1001/archneur.1993.00540080010005.
To determine whether asymptomatic individuals at very high genetic risk for Huntington's disease (HD) have demonstrable cognitive or oculomotor abnormalities.
A case-control study was employed. Presence of the chromosome-4 DNA marker linked to the HD phenotype was the criterion for HD risk.
The Baltimore Huntington's Disease Project Presymptomatic Testing Program at The Johns Hopkins University School of Medicine, Baltimore, Md.
Seventy-six asymptomatic adults at risk for HD, voluntarily enrolled for genetic testing, and determined by clinical examination to be free of major psychiatric disorder or evidence of HD. Twenty were determined to be at greater than or equal to 95% risk for HD; 56 were at less than or equal to 5% risk [corrected].
The Hopkins Verbal Learning Test was used to assess verbal learning and memory. Oculomotor functioning was assessed using Novel-Stimulus, Mirror-Stimulus, and Predictive-Saccade paradigms. Outcome measures included number of correctly recalled words, recognition accuracy, and response bias, as well as saccade latency and number of errors on the Mirror-Stimulus Test.
With one exception, all participants performed within the normal range on the Hopkins Verbal Learning Test. In a blind follow-up examination of the individual who performed aberrantly on the Hopkins Verbal Learning Test, she exhibited neurologic and psychiatric changes sufficient for a clinical diagnosis of HD. There were no group differences on the tests of oculomotor functioning.
Young, asymptomatic adults at very high genetic risk for HD are unimpaired in tests of verbal learning and memory and oculomotor functioning.
确定亨廷顿舞蹈症（HD）遗传风险极高的无症状个体是否存在可证实的认知或眼球运动异常。
采用病例对照研究。与HD表型相关的4号染色体DNA标记物的存在是HD风险的标准。
马里兰州巴尔的摩市约翰霍普金斯大学医学院的巴尔的摩亨廷顿舞蹈症项目症状前检测计划。
76名有HD风险的无症状成年人，自愿参加基因检测，并经临床检查确定无重大精神障碍或HD证据。20人被确定HD风险大于或等于95%；56人风险小于或等于5%[校正后]。
使用霍普金斯言语学习测试评估言语学习和记忆。使用新刺激、镜像刺激和预测性扫视范式评估眼球运动功能。结果测量包括正确回忆单词的数量、识别准确率和反应偏差，以及镜像刺激测试中的扫视潜伏期和错误数量。
除一人外，所有参与者在霍普金斯言语学习测试中的表现均在正常范围内。在对霍普金斯言语学习测试中表现异常的个体进行的盲法随访检查中，她出现了足以临床诊断为HD的神经和精神变化。在眼球运动功能测试中没有组间差异。
HD遗传风险极高的年轻无症状成年人在言语学习和记忆测试以及眼球运动功能测试中未受损。
