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

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 亨廷顿病（HD）是一种常染色体显性遗传的神经退行性疾病，其由基因IT-15或亨廷顿中的三核苷酸重复CAG的不稳定扩增引起。 HD的患病率为每100，000人中有5-10人。 在美国，大约有30，000人具有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），伴有舞蹈病、自主运动障碍、智力功能障碍和精神症状。 HD是无情的，导致功能性残疾和死亡超过10-30年。 亨廷顿病神经生物学预测因子（PREDICT-HD）研究将对已知基因状态的人进行深入检查。在前驱患者中的主要目的是确定特定的治疗干预是否可以安全地延迟疾病发作的年龄。

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.