NEUROBIOLOGICAL PREDICTORS OF HUNTINGTON'S DISEASE ONSET (PREDICT-HD)

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。亨廷顿病(HD)是一种常染色体显性遗传性神经退行性疾病，由IT-15基因中三核苷酸重复CAG的不稳定扩张引起。HD的患病率为每10万人中有5-10人。在美国，大约有30,000人有HD的临床特征，另有200,000人有HD的风险。HD的临床特征通常出现在成年期(平均年龄37岁)，伴有舞蹈症、自主运动障碍、智能障碍和精神症状。HD是无情的，在10-30年的时间里导致功能残疾和死亡。亨廷顿病的神经生物学预测因子(Forecast-HD)研究将对已知基因状态的人进行密集检查。对症状前患者的主要目的是确定特定的治疗干预是否可以安全地推迟疾病的发病年龄。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Huntington's disease (HD) is an autosomal, dominant, neurodegenerative disorder that results from an unstable expansion of the trinucleotide repeat CAG in the gene IT-15, or huntington. HD has a prevalence of 5-10 per 100,000 population. In the United States there are approximately 30,000 individuals with clinical features of HD and another 200,000 at risk for HD. The clinical features of HD usually emerge in adulthood (mean age of 37 years) with chorea, disorders of voluntary movement, intellectual dysfunction, and psychiatric symptoms. HD is relentless, leading to functional disability and death over a period of 10-30 years. The Neurobiological Predictors of Huntington's Disease (PREDICT-HD) study will conduct an intensive examination in persons with known gene status. The primary aim in presymptomatic persons is to determine whether a specific therapeutic intervention can safely delay the age of disease onset.