Oslo University Hospital, Rikshospitalet, Centre for Rare Disorders, Oslo, Norway.
J Clin Exp Neuropsychol. 2010 Jul;32(6):590-8. doi: 10.1080/13803390903337878. Epub 2009 Nov 12.
Previous studies investigating subclinical signs of cognitive decline in presymptomatic carriers of Huntington's disease (HD) have shown conflicting results. The current study examines cognition in 105 at-risk individuals, using a broad neuropsychological test battery and adopting strict inclusion criteria for attaining a homogeneous sample. Results obtained by analyses of variance and effect size calculations indicate no clinical evidence of significant cognitive decline in asymptomatic HD carriers very far from onset of illness compared to noncarriers. Closeness to disease onset amongst gene carriers influenced cognition negatively whereas cytosine-adenine-guanine (CAG) repeat size did not. The findings call for longitudinal follow-up studies using a combination of clinical instruments and experimental paradigms to pinpoint when subtle cognitive deficits occur and within which of the cognitive domains.
先前研究表明，亨廷顿病（HD）无症状携带者存在认知衰退的亚临床迹象，但结果存在争议。本研究采用广泛的神经心理学测试组合，并采用严格的纳入标准以获得同质样本，共对 105 名高危个体进行了认知研究。方差分析和效应量计算的结果表明，与非携带者相比，无症状 HD 携带者在疾病发作前很远的距离，没有临床证据表明存在明显的认知衰退。基因携带者与疾病发作的接近程度对认知有负面影响，而胞嘧啶-腺嘌呤-鸟嘌呤（CAG）重复序列大小没有影响。这些发现呼吁使用临床仪器和实验范式的组合进行纵向随访研究，以确定细微认知缺陷发生的时间以及在哪些认知领域内发生。
