A study addressing motor, cognitive and attentional deficits in presymptomatic gene carriers for Huntington's disease

一项针对亨廷顿病症状前基因携带者运动、认知和注意力缺陷的研究

• 批准号: nhmrc : 194219
• 负责人: Dr Andrew Churchyard
• 金额: $ 12.02万
• 依托单位: Monash University
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2002
• 资助国家: 澳大利亚
• 起止时间: 2002-01-01 至 2004-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/study-addressing-motor-huntingtons-disease/76730
• 关键词: study; addressing; motor; cognitive; attentional

Since the discovery of the Huntington's disease (HD) gene mutation there has been much controversy in the literature relating to whether there are any preclinical deficits in individuals who are gene positive for HD but who have not yet been clinically diagnosed with the disease. Our aim is to examine, over a three year period, the cognitive, attentional and motor performance of presymptomatic gene-positive, and negative, individuals on a wide variety of computerized experimental procedures, which we have previously shown to be sensitive to deficits in individuals who have already been diagnosed with HD. If progressive behavioural changes in gene-positive individuals can be reliably documented to occur before the clinical symptoms of HD are evident, this would be of profound significance as it would allow a set of criteria to be established to assist in early detection of clinical onset of symptoms, and possibly permit use of newly-emerging therapies.

自从发现亨廷顿舞蹈病（HD）基因突变以来，关于基因阳性但尚未被临床诊断为该疾病的个体是否存在临床前缺陷，文献中一直存在很多争议。我们的目标是在三年的时间里，通过各种计算机化的实验程序，检查症状前基因阳性和阴性个体的认知、注意力和运动表现，我们之前已经证明，这些程序对已经被诊断患有HD的个体的缺陷很敏感。如果基因阳性个体的进行性行为改变可以可靠地记录在HD的临床症状明显之前发生，这将具有深远的意义，因为它将允许建立一套标准，以帮助早期发现临床症状，并可能允许使用新出现的治疗方法。