Neurodegeneration Imaging Group (NIG), Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, London, United Kingdom.
Neurodegeneration Imaging Group (NIG), Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, London, United Kingdom.
Int Rev Neurobiol. 2018;142:335-380. doi: 10.1016/bs.irn.2018.09.006. Epub 2018 Oct 8.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder, caused by expansion of the CAG repeat in the huntingtin gene. HD is characterized clinically by progressive motor, cognitive and neuropsychiatric symptoms. There are currently no disease modifying treatments available for HD, and there is a great need for biomarkers to monitor disease progression and identify new targets for therapeutic intervention. Neuroimaging techniques provide a powerful tool for assessing disease pathology and progression in premanifest stages, before the onset of overt motor symptoms. Structural magnetic resonance imaging (MRI) is non-invasive imaging techniques which have been employed to study structural and microstructural changes in premanifest and manifest HD gene carriers. This chapter described structural imaging techniques and analysis methods employed across HD MRI studies. Current evidence for structural MRI abnormalities in HD, and associations between atrophy, structural white matter changes, iron deposition and clinical performance are discussed; together with the use of structural MRI measures as a diagnostic tool, to assess longitudinal changes, and as potential biomarkers and endpoints for clinical trials.
亨廷顿病（HD）是一种常染色体显性遗传的神经退行性疾病，由亨廷顿基因中的 CAG 重复扩展引起。HD 的临床特征是进行性运动、认知和神经精神症状。目前尚无针对 HD 的疾病修饰治疗方法，因此需要生物标志物来监测疾病进展并确定新的治疗靶点。神经影像学技术为评估无症状期和显性期的疾病病理学和进展提供了有力的工具。结构磁共振成像（MRI）是一种非侵入性的成像技术，已被用于研究无症状和显性 HD 基因突变携带者的结构和微观结构变化。这一章描述了 HD MRI 研究中使用的结构成像技术和分析方法。目前探讨了 HD 中结构 MRI 异常的证据，以及萎缩、结构白质变化、铁沉积与临床表现之间的关联；以及结构 MRI 测量作为诊断工具、评估纵向变化以及作为临床试验的潜在生物标志物和终点的用途。
