Campodonico J R, Aylward E, Codori A M, Young C, Krafft L, Magdalinski M, Ranen N, Slavney P R, Brandt J
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287-7218, USA.
J Int Neuropsychol Soc. 1998 Sep;4(5):467-73. doi: 10.1017/s1355617798455061.
Recent studies have detected basal ganglia atrophy in clinically asymptomatic persons with the genetic mutation that causes Huntington's disease (HD). Whether reductions in caudate and putamen volume on MRI scans are associated with changes in cognitive and neurologic functioning was examined in 13 healthy adults with the IT-15 mutation. Reduced striatal volume was found to correlate with greater neurologic (largely motor) impairment, slower mental processing speed, and poorer verbal learning, although none of the participants met even liberal criteria for clinical diagnosis of HD. These correlations are strikingly similar to those observed in symptomatic HD patients, possibly reflecting the earliest manifestations of disease.
最近的研究在具有导致亨廷顿病（HD）的基因突变的临床无症状个体中检测到基底神经节萎缩。在13名携带IT-15突变的健康成年人中，研究了MRI扫描中尾状核和壳核体积的减少是否与认知和神经功能的变化相关。尽管没有一名参与者达到HD临床诊断的宽松标准，但发现纹状体体积减少与更严重的神经（主要是运动）损伤、更慢的心理处理速度和更差的语言学习能力相关。这些相关性与有症状的HD患者中观察到的相关性惊人地相似，可能反映了疾病的最早表现。
