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

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。亨廷顿舞蹈病（HD）是一种常染色体显性神经退行性疾病，由基因IT-15或亨廷顿基因中三核苷酸重复CAG的不稳定扩增引起。每10万人中有5-10人患有艾滋病。在美国，大约有3万人具有HD的临床特征，另有20万人有患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、智力障碍和精神症状。HD是无情的，在10-30年的时间里导致功能性残疾和死亡。亨廷顿舞蹈病的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。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延迟疾病发病年龄。

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.