Paulsen Jane S
University of Iowa, The Roy J. and Lucille A. Carver College of Medicine, Departments of Psychiatry, Neurology, Neurosciences, and Psychology, Iowa City, IA.
Future Neurol. 2010 Jan;5(1). doi: 10.2217/fnl.09.78.
Huntington disease (HD) is a devastating illness, although its autosomal dominant genetic transmission allows a unique opportunity to study apparently healthy individuals before manifest disease. Attempts to study early disease are not unique in neurology (e.g., Mild Cognitive Impairment, Vascular Cognitive Impairment), but studying otherwise-healthy appearing individuals who will go on with nearly 99% certainty to manifest the symptoms of brain disease does provide distinct but valuable information about the true natural history of the disease. The field has witnessed an explosion of research examining possible early indicators of HD during what is now referred to as the "prodrome" of HD. A NIH study in its ninth year (PREDICT-HD) has offered a glimpse into the transition from an apparently healthy state to an obviously diseased state, and can serve as a model for many other genetic diseases, both neurological and non-neurological.
亨廷顿舞蹈症（HD）是一种极具破坏性的疾病，尽管其常染色体显性遗传传递为在疾病显现之前研究表面健康的个体提供了独特的机会。在神经病学领域，研究早期疾病并非罕见（例如轻度认知障碍、血管性认知障碍），但研究那些几乎有99%的确定性会继续出现脑部疾病症状的表面健康个体，确实能提供有关该疾病真实自然史的独特而有价值的信息。在如今被称为HD“前驱期”的阶段，该领域见证了大量研究，旨在探究HD可能的早期指标。美国国立卫生研究院（NIH）开展了一项为期九年的研究（PREDICT-HD），让我们得以一窥从表面健康状态到明显患病状态的转变过程，并且可以作为许多其他神经和非神经遗传性疾病的研究模型。
