Stout Julie C, Weaver Marjorie, Solomon Andrea C, Queller Sarah, Hui Siu, Johnson Shannon A, Gray Jacqueline, Beristain Xabier, Wojcieszek Joanne, Foroud Tatiana
Department of Psychological and Brain Sciences, Indiana University, Bloomington, IN, USA.
Cogn Behav Neurol. 2007 Dec;20(4):212-8. doi: 10.1097/WNN.0b013e31815cfef8.
To characterize neurocognitive signs of disease progression in prediagnosis and early Huntington disease (HD) and compare the sensitivity of 2 disease staging classification schemes for detecting these signs.
Three hundred and six individuals at-risk for or recently diagnosed with HD completed the Unified Huntington's Disease Rating Scale, genetic testing, and a neurocognitive battery. Two schemes were used to estimate latency to onset of disease. One was based on genetic information (CAG repeat length) and the other was based on the extent of motor signs. Effect sizes were compared to assess the relative sensitivity of the 2 schemes for detecting signs of disease progression.
CAG-expanded participants far from estimated diagnosis performed similarly to controls, whereas those near to estimated diagnosis were impaired relative to controls. Overall, the method employing genetic information yielded larger effect sizes than the motor scheme, particularly for strategic and executive function measures; the motor scheme resulted in a larger effect size for a measure of motor/psychomotor function.
Neurocognitive function is not uniformly affected in prediagnosis and early HD; individuals near to their estimated age of diagnosis have cognitive signs similar to HD, whereas individuals far from estimated diagnosis appear cognitively normal. Classification schemes that incorporate both genetic and phenotypic information may be more sensitive for tracking neurocognitive signs of disease progression.
描述疾病诊断前和早期亨廷顿舞蹈病（HD）疾病进展的神经认知体征，并比较两种疾病分期分类方案检测这些体征的敏感性。
306名有HD风险或近期被诊断为HD的个体完成了统一亨廷顿舞蹈病评定量表、基因检测和一套神经认知测试。使用两种方案来估计疾病发病潜伏期。一种基于基因信息（CAG重复长度），另一种基于运动体征的程度。比较效应量以评估两种方案检测疾病进展体征的相对敏感性。
CAG重复序列扩展且距离估计诊断较远的参与者表现与对照组相似，而那些接近估计诊断的参与者相对于对照组则有损害。总体而言，采用基因信息的方法比运动方案产生更大的效应量，特别是对于策略性和执行功能测量；运动方案在运动/精神运动功能测量方面产生更大的效应量。
在疾病诊断前和早期HD中，神经认知功能并非均一受到影响；接近估计诊断年龄的个体具有与HD相似的认知体征，而距离估计诊断较远的个体在认知上似乎正常。结合基因和表型信息的分类方案可能对追踪疾病进展的神经认知体征更敏感。
