Seven-year clinical follow-up of premanifest carriers of Huntington's disease.
Seven-year clinical follow-up of premanifest carriers of Huntington's disease.
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亨廷顿氏病前载体的七年临床随访。
DOI：
10.1371/currents.rrn1288
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发表时间：
2011-11-30
期刊：
影响因子：
--
通讯作者：
Roos RA
中科院分区：
文献类型：
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作者：
Hart E;Middelkoop H;Jurgens CK;Witjes-Ané MN;Roos RA
在亨廷顿病(HD)的“显性前期”阶段检测细微的临床异常对于开发监测早期治疗干预试验的仪器非常重要。目前的研究检测了七年来HD基因突变的先兆携带者的运动功能、认知和行为的变化。对29例无明确HD运动体征的携带者和43例非携带者对照进行了4次前瞻性检查。这些评估包括统一的亨廷顿氏病评定量表(UHDRS)和一套广泛的神经心理测试，涉及全球认知功能、记忆、语言和执行功能。变化率(ROC)分析用于测量携带者和非携带者之间的纵向差异。运营商在执行功能(符号数字模式测试(SDMT)、Stroop、连线测试(TMT)和WAIS-R算术)上的表现一直较差。多年来，携带者表现出记忆和注意力功能(韦氏记忆量表(WMS))和运动功能(UHDRS运动量表)的下降。随着时间的推移，变化可能特别归因于运营商转换为高清。这些结果表明，标准化的运动评估、客观记忆和注意力任务在7年内对变化很敏感，特别是在携带者转变为显性HD的情况下。执行任务在预显性HD中也显示出微妙的认知异常，但不能证明随着时间的推移而下降。
Detecting subtle clinical abnormalities in the ‘premanifest’ phase of Huntington’s disease (HD) is of importance in the development of instruments to monitor early therapeutic intervention trials. The current study examined changes in motor function, cognition and behaviour over a period of seven years in premanifest carriers of the HD gene mutation. Twenty-nine carriers without unequivocal motor signs of HD and 43 non-carrier controls were prospectively examined four times. The assessments consisted of the Unified Huntington’s Disease Rating Scale (UHDRS) and an extensive neuropsychological test battery addressing global cognitive function, memory, language and executive function. Rate of Change (RoC) analysis was performed to measure longitudinal differences between carriers and non-carriers. Carriers performed consistently worse on executive function (Symbol Digit Modalities Test (SDMT), Stroop, Trail Making Test (TMT) and WAIS-R arithmetic). Over the years, carriers showed a decline in memory and concentration function (Wechsler Memory Scale (WMS)) and in motor function (UHDRS motor scale). Changes over time could be particularly ascribed to carriers converting to manifest HD. These results demonstrate that standardized motor assessments and objective memory and concentration tasks are sensitive to change over a period of 7 years, specifically in carriers converting to manifest HD. Executive tasks also showed subtle cognitive abnormalities in premanifest HD, but a decline over time could not be demonstrated.