Jason G W, Pajurkova E M, Suchowersky O, Hewitt J, Hilbert C, Reed J, Hayden M R
Department of Clinical Neurosciences, University of Calgary, Alberta, Canada.
Arch Neurol. 1988 Jul;45(7):769-73. doi: 10.1001/archneur.1988.00520310079021.
Ten asymptomatic individuals at risk for Huntington's disease (HD) were determined by the use of linked DNA probes to have a high (HD+ group) or low (HD- group) probability of having inherited the mutant gene. Neuropsychological examination, performed without knowledge of DNA results, revealed impairments in five of seven subjects in the HD+ group. Abnormalities were related to visuospatial abilities or to functions associated with the frontal lobes. All three subjects in the HD- group showed no neuropsychological impairment. Statistical analyses confirmed differences between the HD+ and HD- groups. Affected parents of subjects were at least 12 years older at symptom onset. These results demonstrate that clear neuropsychological impairment may be present in HD even when overt signs and symptoms are not expected for a number of years.
通过使用连锁DNA探针，确定了10名有亨廷顿舞蹈症（HD）风险的无症状个体，他们携带突变基因的概率较高（HD+组）或较低（HD-组）。在不知道DNA检测结果的情况下进行了神经心理学检查，结果显示HD+组的7名受试者中有5名存在损伤。这些异常与视觉空间能力或与额叶相关的功能有关。HD-组的3名受试者均未表现出神经心理学损伤。统计分析证实了HD+组和HD-组之间的差异。受试者受影响的父母在症状出现时至少比他们大12岁。这些结果表明，即使在数年内预计不会出现明显体征和症状的情况下，HD患者也可能存在明显的神经心理学损伤。
